Student Publications

Publications produced by all current and former Genetics Ph.D. students during their time at Iowa. This list is alphabetized by first name.

Last Updated: 7/11/18

SPACER

Abe Sheffield:

Sheffield AM, Gubbels SP, Hildebrand MS, Newton SS, Chiorini JA, Di Pasquale G, Smith RJ. Viral vector tropism for supporting cells in the developing murine cochlea. Hear Res. 2011 Jul;277(1-2):28-36. doi: 10.1016/j.heares.2011.03.016. Epub 2011 Apr 22. PubMed PMID: 21530627; PubMed Central PMCID: PMC3137760.

Hildebrand MS, Newton SS, Gubbels SP, Sheffield AM, Kochhar A, de Silva MG, Dahl HM, Rose SD, Behlke MA, Smith RJ. Advances in Molecular and Cellular Therapies for Hearing Loss. Mol Ther. 2008 Feb;16(2):224-236. doi:10.1038/sj.mt.6300351. Epub 2016 Dec 7. Review. PubMed PMID: 28178538.

Racila DM, Sontheimer CJ, Sheffield A, Wisnieski JJ, Racila E, Sontheimer RD. Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. Lupus. 2003;12(2):124-32. PubMed PMID: 12630757.

SPACER

Ahmed Moustafa:

Moustafa A, Beszteri B, Maier UG, Bowler C, Valentin K, Bhattacharya D. Genomic footprints of a cryptic plastid endosymbiosis in diatoms. Science. 2009 Jun 26;324(5935):1724-6. doi: 10.1126/science.1172983. PubMed PMID: 19556510.

Moustafa A, Loram JE, Hackett JD, Anderson DM, Plumley FG, Bhattacharya D. Origin of saxitoxin biosynthetic genes in cyanobacteria. PLoS One. 2009 Jun 1;4(6):e5758. doi: 10.1371/journal.pone.0005758. PubMed PMID: 19484122; PubMed Central PMCID: PMC2684587.

Reyes-Prieto A, Moustafa A, Bhattacharya D. Multiple genes of apparent algal origin suggest ciliates may once have been photosynthetic. Curr Biol. 2008 Jul 8;18(13):956-62. doi: 10.1016/j.cub.2008.05.042. PubMed PMID: 18595706; PubMed Central PMCID: PMC2577054.

Moustafa A, Reyes-Prieto A, Bhattacharya D. Chlamydiae has contributed at least 55 genes to Plantae with predominantly plastid functions. PLoS One. 2008 May 21;3(5):e2205. doi: 10.1371/journal.pone.0002205. PubMed PMID: 18493612; PubMed Central PMCID: PMC2376095.

Lanier W, Moustafa A, Bhattacharya D, Comeron JM. EST analysis of Ostreococcus lucimarinus, the most compact eukaryotic genome, shows an excess of introns in highly expressed genes. PLoS One. 2008 May 14;3(5):e2171. doi: 10.1371/journal.pone.0002171. PubMed PMID: 18478122; PubMed Central PMCID: PMC2367439.

Moustafa A, Bhattacharya D. PhyloSort: a user-friendly phylogenetic sorting tool and its application to estimating the cyanobacterial contribution to the nuclear genome of Chlamydomonas. BMC Evol Biol. 2008 Jan 15;8:6. doi: 10.1186/1471-2148-8-6. PubMed PMID: 18194581; PubMed Central PMCID: PMC2254586.

Moustafa A, Chan CX, Danforth M, Zear D, Ahmed H, Jadhav N, Savage T, Bhattacharya D. A phylogenomic approach for studying plastid endosymbiosis. Genome Inform. 2008;21:165-76. PubMed PMID: 19425156.

Rumpho ME, Worful JM, Lee J, Kannan K, Tyler MS, Bhattacharya D, Moustafa A, Manhart JR. Horizontal gene transfer of the algal nuclear gene psbO to the photosynthetic sea slug Elysia chlorotica. Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17867-71. doi: 10.1073/pnas.0804968105. Epub 2008 Nov 11. PubMed PMID: 19004808; PubMed Central PMCID: PMC2584685.

SPACER

Aimee Buhr:

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30. PubMed PMID: 18976727; PubMed Central PMCID: PMC2668041.

SPACER

Alex Wagner:

Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Exp Eye Res. 2014 Dec;129:93-106. doi: 10.1016/j.exer.2014.11.001. Epub 2014 Nov 5. PubMed PMID: 25446321; PubMed Central PMCID: PMC4259842.

Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Prioritization of retinal disease genes: an integrative approach. Hum Mutat. 2013 Jun;34(6):853-9. doi: 10.1002/humu.22317. Epub 2013 Apr 12. PubMed PMID: 23508994; PubMed Central PMCID: PMC4509594.

Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, Scheetz TE, Mullins RF, Braun TA, Clark AF. Exon-level expression profiling of ocular tissues. Exp Eye Res. 2013 Jun;111:105-11. doi: 10.1016/j.exer.2013.03.004. Epub 2013 Mar 14. PubMed PMID: 23500522; PubMed Central PMCID: PMC3664108.

SPACER

Alissa Hulstrand:

Hulstrand AM, Schneider PN, Houston DW. The use of antisense oligonucleotides in Xenopus oocytes. Methods. 2010 May;51(1):75-81. doi:10.1016/j.ymeth.2009.12.015. Epub 2010 Jan 5. Review. PubMed PMID: 20045732; PubMed Central PMCID: PMC2868083.

Schneider PN, Hulstrand AM, Houston DW. Fertilization of Xenopus oocytes using the host transfer method. J Vis Exp. 2010 Nov 2;(45). pii: 1864. doi:10.3791/1864. PubMed PMID: 21085101; PubMed Central PMCID: PMC3048584.

Malik SB, Ramesh MA, Hulstrand AM, Logsdon JM Jr. Protist homologs of the meiotic Spo11 gene and topoisomerase VI reveal an evolutionary history of gene duplication and lineage-specific loss. Mol Biol Evol. 2007 Dec;24(12):2827-41. Epub 2007 Oct 5. PubMed PMID: 17921483.

SPACER

Allison Cox:

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ. Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PLoS One. 2017 Mar 16;12(3):e0169687. doi: 10.1371/journal.pone.0169687. eCollection 2017. Erratum in: PLoS One. 2017 Jul 7;12 (7):e0181222. PubMed PMID: 28301468; PubMed Central PMCID: PMC5354242.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan. PubMed PMID: 28078312; PubMed Central PMCID: PMC5221474.

Schaefer KA, Toral MA, Velez G, Cox AJ, Baker SA, Borcherding NC, Colgan DF, Bondada V, Mashburn CB, Yu CG, Geddes JW, Tsang SH, Bassuk AG, Mahajan VB. Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses. Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2509-21. doi: 10.1167/iovs.15-18680. PubMed PMID: 27152965; PubMed Central PMCID: PMC4868102.

Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PubMed PMID: 25763846; PubMed Central PMCID: PMC4357451.

SPACER

Amber Hohl:

Hohl AM, Thompson M, Soshnev AA, Wu J, Morris J, Hsieh TS, Wu CT, Geyer PK. Restoration of topoisomerase 2 function by complementation of defective monomers in Drosophila. Genetics. 2012 Nov;192(3):843-56. doi: 10.1534/genetics.112.144006. Epub 2012 Aug 24. PubMed PMID: 22923380; PubMed Central PMCID: PMC3522162.

SPACER

Ashlyn Spring:

Spring AM, Brusich DJ, Frank CA. C-terminal Src Kinase Gates Homeostatic Synaptic Plasticity and Regulates Fasciclin II Expression at the Drosophila Neuromuscular Junction. PLoS Genet. 2016 Feb 22;12(2):e1005886. doi: 10.1371/journal.pgen.1005886. eCollection 2016 Feb. PubMed PMID: 26901416; PubMed Central PMCID: PMC4764653.

Brusich DJ, Spring AM, Frank CA. A single-cross, RNA interference-based genetic tool for examining the long-term maintenance of homeostatic plasticity. Front Cell Neurosci. 2015 Mar 26;9:107. doi: 10.3389/fncel.2015.00107. eCollection 2015. PubMed PMID: 25859184; PubMed Central PMCID: PMC4374470.

SPACER

Autumn Marsden:

Marsden AN, Derry SW, Schneider I, Scott CA, Westfall TA, Brastrom LK, Shea MA, Dawson DV, Slusarski DC. The Nkd EF-hand domain modulates divergent wnt signaling outputs in zebrafish. Dev Biol. 2018 Feb 1;434(1):63-73. doi: 10.1016/j.ydbio.2017.11.012. Epub 2017 Nov 24. PubMed PMID: 29180104.

Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, Baye LM, Sheffield VC, Slusarski DC. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 2017 Jul 28;13(7):e1006936. doi:10.1371/journal.pgen.1006936. eCollection 2017 Jul. PubMed PMID: 28753627; PubMed Central PMCID: PMC5550010.

Scott CA, Marsden AN, Slusarski DC. Automated, high-throughput, in vivo analysis of visual function using the zebrafish. Dev Dyn. 2016 May;245(5):605-13.doi: 10.1002/dvdy.24398. Epub 2016 Mar 6. PubMed PMID: 26890697; PubMed Central PMCID: PMC4844763.

SPACER

Benjamin Brett:

Morris SM, Davison J, Carter KT, O’Leary RM, Trobridge P, Knoblaugh SE, Myeroff LL, Markowitz SD, Brett BT, Scheetz TE, Dupuy AJ, Starr TK, Grady WM. Transposon mutagenesis identifies candidate genes that cooperate with loss of transforming growth factor-beta signaling in mouse intestinal neoplasms. Int J Cancer. 2017 Feb 15;140(4):853-863. doi: 10.1002/ijc.30491. Epub 2016 Nov 7. PubMed PMID: 27790711; PubMed Central PMCID: PMC5316486.

Riordan JD, Drury LJ, Smith RP, Brett BT, Rogers LM, Scheetz TE, Dupuy AJ. Sequencing methods and datasets to improve functional interpretation of sleeping beauty mutagenesis screens. BMC Genomics. 2014 Dec 19;15:1150. doi: 10.1186/1471-2164-15-1150. PubMed PMID: 25526783; PubMed Central PMCID: PMC4378557.

Burnight ER, Staber JM, Korsakov P, Li X, Brett BT, Scheetz TE, Craig NL, McCray PB Jr. A Hyperactive Transposase Promotes Persistent Gene Transfer of a piggyBac DNA Transposon. Mol Ther Nucleic Acids. 2012 Oct 16;1:e50. doi: 10.1038/mtna.2012.12. PubMed PMID: 23344650; PubMed Central PMCID: PMC3499692.

Brett BT, Berquam-Vrieze KE, Nannapaneni K, Huang J, Scheetz TE, Dupuy AJ. Novel molecular and computational methods improve the accuracy of insertion site analysis in Sleeping Beauty-induced tumors. PLoS One. 2011;6(9):e24668. doi:10.1371/journal.pone.0024668. Epub 2011 Sep 13. PubMed PMID: 21931803; PubMed Central PMCID: PMC3172244.

Berquam-Vrieze KE, Nannapaneni K, Brett BT, Holmfeldt L, Ma J, Zagorodna O, Jenkins NA, Copeland NG, Meyerholz DK, Knudson CM, Mullighan CG, Scheetz TE, Dupuy AJ. Cell of origin strongly influences genetic selection in a mouse model of T-ALL. Blood. 2011 Oct 27;118(17):4646-56. doi: 10.1182/blood-2011-03-343947. Epub 2011 Aug 9. PubMed PMID: 21828136; PubMed Central PMCID: PMC3208280.

SPACER

Bing He:

He B, Xing S, Chen C, Gao P, Teng L, Shan Q, Gullicksrud JA, Martin MD, Yu S, Harty JT, Badovinac VP, Tan K, Xue HH. CD8(+) T Cells Utilize Highly Dynamic Enhancer Repertoires and Regulatory Circuitry in Response to Infections. Immunity. 2016 Dec 20;45(6):1341-1354. doi: 10.1016/j.immuni.2016.11.009. Epub 2016 Dec 13. PubMed PMID: 27986453; PubMed Central PMCID: PMC5304416.

He B, Tan K. Understanding transcriptional regulatory networks using computational models. Curr Opin Genet Dev. 2016 Apr;37:101-108. doi:10.1016/j.gde.2016.02.002. Epub 2016 Mar 4. Review. PubMed PMID: 26950762; PubMed Central PMCID: PMC4943455.

Holmfeldt P, Ganuza M, Marathe H, He B, Hall T, Kang G, Moen J, Pardieck J, Saulsberry AC, Cico A, Gaut L, McGoldrick D, Finkelstein D, Tan K, McKinney-Freeman S. Functional screen identifies regulators of murine hematopoietic stem cell repopulation. J Exp Med. 2016 Mar 7;213(3):433-49. doi:10.1084/jem.20150806. Epub 2016 Feb 15. Erratum in: J Exp Med. 2016 Oct 17;213(11):2525. PubMed PMID: 26880577; PubMed Central PMCID: PMC4813668.

Steinke FC, Yu S, Zhou X, He B, Yang W, Zhou B, Kawamoto H, Zhu J, Tan K, Xue HH. TCF-1 and LEF-1 act upstream of Th-POK to promote the CD4(+) T cell fate and interact with Runx3 to silence Cd4 in CD8(+) T cells. Nat Immunol. 2014 Jul;15(7):646-656. doi: 10.1038/ni.2897. Epub 2014 May 18. PubMed PMID: 24836425; PubMed Central PMCID: PMC4064003.

Teng L, He B, Gao P, Gao L, Tan K. Discover context-specific combinatorial transcription factor interactions by integrating diverse ChIP-Seq data sets. Nucleic Acids Res. 2014 Feb;42(4):e24. doi: 10.1093/nar/gkt1105. Epub 2013 Nov 11. PubMed PMID: 24217919; PubMed Central PMCID: PMC3936738.

Soshnev AA, He B, Baxley RM, Jiang N, Hart CM, Tan K, Geyer PK. Genome-wide studies of the multi-zinc finger Drosophila Suppressor of Hairy-wing protein in the ovary. Nucleic Acids Res. 2012 Jul;40(12):5415-31. doi: 10.1093/nar/gks225. Epub 2012 Mar 9. PubMed PMID: 22406832; PubMed Central PMCID: PMC3384341.

SPACER

Changya Chen:

He B, Chen C, Teng L, Tan K. Global view of enhancer-promoter interactome in human cells. Proc Natl Acad Sci U S A. 2014 May 27;111(21):E2191-9. doi:10.1073/pnas.1320308111. Epub 2014 May 12. PubMed PMID: 24821768; PubMed Central PMCID: PMC4040567.

Cao Z, Chen C, He B, Tan K, Lu C. A microfluidic device for epigenomic profiling using 100 cells. Nat Methods. 2015 Oct;12(10):959-62. doi:10.1038/nmeth.3488. Epub 2015 Jul 27. PubMed PMID: 26214128; PubMed Central PMCID: PMC4589469.

Fan R, Bonde S, Gao P, Sotomayor B, Chen C, Mouw T, Zavazava N, Tan K. Dynamic HoxB4-regulatory network during embryonic stem cell differentiation to hematopoietic cells. Blood. 2012 May 10;119(19):e139-47. doi:10.1182/blood-2011-12-396754. Epub 2012 Mar 21. PubMed PMID: 22438249; PubMed Central PMCID: PMC3362371.

He B, Xing S, Chen C, Gao P, Teng L, Shan Q, Gullicksrud JA, Martin MD, Yu S, Harty JT, Badovinac VP, Tan K, Xue HH. CD8(+) T Cells Utilize Highly Dynamic Enhancer Repertoires and Regulatory Circuitry in Response to Infections. Immunity. 2016 Dec 20;45(6):1341-1354. doi: 10.1016/j.immuni.2016.11.009. Epub 2016 Dec 13. PubMed PMID: 27986453; PubMed Central PMCID: PMC5304416.

SPACER

Christina Winborn:

Zhang Z, Winborn CS, Marquez de Prado B, Russo AF. Sensitization of calcitonin gene-related peptide receptors by receptor activity-modifying protein-1 in the trigeminal ganglion. J Neurosci. 2007 Mar 7;27(10):2693-703. PubMed PMID: 17344407.

Bowen EJ, Schmidt TW, Firm CS, Russo AF, Durham PL. Tumor necrosis factor-alpha stimulation of calcitonin gene-related peptide expression and secretion from rat trigeminal ganglion neurons. J Neurochem. 2006 Jan;96(1):65-77. Epub 2005 Nov 8. PubMed PMID: 16277606; PubMed Central PMCID: PMC1486866.

SPACER

Colleen Campbell:

Campbell CA, Della Santina CC, Meyer NC, Smith NB, Myrie OA, Stone EM, Fukushima K, Califano J, Carey JP, Hansen MR, Gantz BJ, Minor LB, Smith RJ. Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population. Am J Med Genet A. 2010 Jan;152A(1):67-74. doi:10.1002/ajmg.a.33114. Erratum in: Am J Med Genet A. 2011 Mar;155A(3):666. PubMed PMID: 20034061.

Hildebrand MS, de Silva MG, Klockars T, Campbell CA, Smith RJ, Dahl HH. Gene expression profiling analysis of the inner ear. Hear Res. 2007 Mar;225(1-2):1-10. Epub 2007 Jan 18. Review. PubMed PMID: 17300888.

Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith LL, Burke DW, Campbell CA, Smith RJ. Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg. 2005 Dec;131(12):1057-63. PubMed PMID: 16365218.

Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. J Med Genet. 2002 Jul;39(7):473-7. PubMed PMID: 12114476; PubMed Central PMCID: PMC1735167.

Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001 May;17(5):403-11. PubMed PMID: 11317356.

SPACER

Danielle Beekman:

Schurko AM, Mazur DJ, Logsdon JM Jr. Inventory and phylogenomic distribution of meiotic genes in Nasonia vitripennis and among diverse arthropods. Insect Mol Biol. 2010 Feb;19 Suppl 1:165-80. doi: 10.1111/j.1365-2583.2009.00948.x. PubMed PMID: 20167026.

Rice C, Beekman D, Liu L, Erives A. The Nature, Extent, and Consequences of Genetic Variation in the opa Repeats of Notch in Drosophila. G3 (Bethesda). 2015 Sep 10;5(11):2405-19. doi: 10.1534/g3.115.021659. PubMed PMID: 26362765; PubMed Central PMCID: PMC4632060.

SPACER

Danielle Herrig:

Llopart A, Herrig D, Brud E, Stecklein Z. Sequential adaptive introgression of the mitochondrial genome in Drosophila yakuba and Drosophila santomea. Mol Ecol. 2014 Mar;23(5):1124-36. doi: 10.1111/mec.12678. PubMed PMID: 24460929; PubMed Central PMCID: PMC4260671.

Herrig DK, Modrick AJ, Brud E, Llopart A. Introgression in the Drosophila subobscura–D. Madeirensis sister species: evidence of gene flow in nuclear genes despite mitochondrial differentiation. Evolution. 2014 Mar;68(3):705-19. doi:10.1111/evo.12295. Epub 2013 Nov 14. PubMed PMID: 24152112; PubMed Central PMCID: PMC4255303.

SPACER

Danielle Rudd:

Rudd D, Axelsen M, Epping EA, Andreasen N, Wassink T. Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2-p12.1 and two large chromosomal abnormalities at 16q22.3-q24.3 and Xq23-q28. Clin Case Rep. 2015 Apr;3(4):201-7. doi: 10.1002/ccr3.192. Epub 2015 Feb 2. PubMed PMID: 25914809; PubMed Central PMCID: PMC4405302.

Rudd DS, Axelsen M, Epping EA, Andreasen NC, Wassink TH. A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model. Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):619-26. doi: 10.1002/ajmg.b.32266. Epub 2014 Sep 16. PubMed PMID: 25228354.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PubMed PMID: 24312498; PubMed Central PMCID: PMC3849077.

Wassink TH, Epping EA, Rudd D, Axelsen M, Ziebell S, Fleming FW, Monson E, Ho BC, Andreasen NC. Influence of ZNF804a on brain structure volumes and symptom severity in individuals with schizophrenia. Arch Gen Psychiatry. 2012 Sep;69(9):885-92. doi: 10.1001/archgenpsychiatry.2011.2116. PubMed PMID: 22945618; PubMed Central PMCID: PMC3852666.

Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet. 2011 Jan;129(1):91-100. doi:10.1007/s00439-010-0904-6. Epub 2010 Oct 28. PubMed PMID: 20981449; PubMed Central PMCID: PMC3613489.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord. 2009 Dec;1(4):292-301. doi:10.1007/s11689-009-9013-z. Epub 2009 May 27. PubMed PMID: 21547721; PubMed Central PMCID: PMC3164008.

Hartz SM, Ho BC, Andreasen NC, Librant A, Rudd D, Epping EA, Wassink TH. G72 influences longitudinal change in frontal lobe volume in schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):640-647. doi: 10.1002/ajmg.b.31033. PubMed PMID: 19760675; PubMed Central PMCID: PMC2908546.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Pax6 3′ deletion results in aniridia, autism and mental retardation. Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Review. PubMed PMID: 18322702; PubMed Central PMCID: PMC2719768.

SPACER

Di Xu:

Grobe JL, Buehrer BA, Hilzendeger AM, Liu X, Davis DR, Xu D, Sigmund CD. Angiotensinergic signaling in the brain mediates metabolic effects of deoxycorticosterone (DOCA)-salt in C57 mice. Hypertension. 2011 Mar;57(3):600-7. doi: 10.1161/HYPERTENSIONAHA.110.165829. Epub 2011 Jan 24. PubMed PMID: 21263123; PubMed Central PMCID: PMC3144490.

Xu D, Borges GR, Davis DR, Agassandian K, Sequeira Lopez ML, Gomez RA, Cassell MD, Grobe JL, Sigmund CD. Neuron- or glial-specific ablation of secreted renin does not affect renal renin, baseline arterial pressure, or metabolism. Physiol Genomics. 2011 Mar 29;43(6):286-94. doi: 10.1152/physiolgenomics.00208.2010. Epub 2010 Dec 28. PubMed PMID: 21189370; PubMed Central PMCID: PMC3068515.

Grobe JL, Grobe CL, Beltz TG, Westphal SG, Morgan DA, Xu D, de Lange WJ, Li H, Sakai K, Thedens DR, Cassis LA, Rahmouni K, Mark AL, Johnson AK, Sigmund CD. The brain Renin-angiotensin system controls divergent efferent mechanisms to regulate fluid and energy balance. Cell Metab. 2010 Nov 3;12(5):431-42. doi:10.1016/j.cmet.2010.09.011. PubMed PMID: 21035755; PubMed Central PMCID:PMC2994017.

Xu D, Borges GR, Grobe JL, Pelham CJ, Yang B, Sigmund CD. Preservation of intracellular renin expression is insufficient to compensate for genetic loss of secreted renin. Hypertension. 2009 Dec;54(6):1240-7. doi: 10.1161/HYPERTENSIONAHA.109.138677. Epub 2009 Oct 12. PubMed PMID: 19822797; PubMed Central PMCID: PMC2783841.

Grobe JL, Xu D, Sigmund CD. An intracellular renin-angiotensin system in neurons: fact, hypothesis, or fantasy. Physiology (Bethesda). 2008 Aug;23:187-93. doi: 10.1152/physiol.00002.2008. Review. PubMed PMID: 18697992; PubMed Central PMCID: PMC2538674.

Li H, Zhou X, Davis DR, Xu D, Sigmund CD. An androgen-inducible proximal tubule-specific Cre recombinase transgenic model. Am J Physiol Renal Physiol. 2008 Jun;294(6):F1481-6. doi: 10.1152/ajprenal.00064.2008. Epub 2008 Apr 2. PubMed PMID: 18385272; PubMed Central PMCID: PMC3584705.

SPACER

Dina Ahram:

Ahram DF, Alward WL, Kuehn MH. The genetic mechanisms of primary angle closure glaucoma. Eye (Lond). 2015 Oct;29(10):1251-9. doi: 10.1038/eye.2015.124. Epub 2015 Jul 24. Review. PubMed PMID: 26206529; PubMed Central PMCID: PMC4815686.

Ahram DF, Grozdanic SD, Kecova H, Henkes A, Collin RW, Kuehn MH. Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. PLoS One. 2015 May 4;10(5):e0126660. doi: 10.1371/journal.pone.0126660. eCollection 2015. PubMed PMID: 25938837; PubMed Central PMCID: PMC4418656.

SPACER

David Marion:

Kuhn-Parnell EJ, Helou C, Marion DJ, Gilmore BL, Parnell TJ, Wold MS, Geyer PK. Investigation of the properties of non-gypsy suppressor of hairy-wing-binding sites. Genetics. 2008 Jul;179(3):1263-73. doi: 10.1534/genetics.108.087254. Epub 2008 Jun 18. PubMed PMID: 18562648; PubMed Central PMCID: PMC2475731.

SPACER

Elizabeth Leslie:

Leslie EJ, O’Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch’ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. PubMed PMID: 25691407; PubMed Central PMCID: PMC4423539.

Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, Bannasch DL. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet. 2014 Apr 3;10(4):e1004257. doi: 10.1371/journal.pgen.1004257. eCollection 2014 Apr. PubMed PMID: 24699068; PubMed Central PMCID: PMC3974639.

Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi:10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19. PubMed PMID: 24360809; PubMed Central PMCID: PMC3882735.

Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L’Heureux J, Zucchero TM, Marazita ML, Murray JC. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013 Oct;161A(10):2535-2544. doi: 10.1002/ajmg.a.36133. Epub 2013 Aug 15. PubMed PMID: 23949966; PubMed Central PMCID: PMC3898350.

Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Presence of epilepsy-associated variants in large exome databases. J Neurogenet. 2013 Jun;27(1-2):1-4. doi: 10.3109/01677063.2013.772176. Epub 2013 Mar 25. PubMed PMID: 23527921; PubMed Central PMCID: PMC3672316.

Butali A, Suzuki S, Cooper ME, Mansilla AM, Cuenco K, Leslie EJ, Suzuki Y, Niimi T, Yamamoto M, Ayanga G, Erkhembaatar T, Furukawa H, Fujiwawa K, Imura H, Petrin AL, Natsume N, Beaty TH, Marazita ML, Murray JC. Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am J Med Genet A. 2013 May;161A(5):965-72. doi: 10.1002/ajmg.a.35749. Epub 2013 Mar 5. PubMed PMID: 23463464; PubMed Central PMCID: PMC3634899.

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet Med. 2013 May;15(5):338-44. doi: 10.1038/gim.2012.141. Epub 2012 Nov 15. PubMed PMID: 23154523; PubMed Central PMCID: PMC3723330.

Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934-42. doi: 10.1002/bdra.23076. Epub 2012 Sep 24. PubMed PMID: 23008150; PubMed Central PMCID: PMC3501616.

Leslie EJ, Murray JC. Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. Clin Genet. 2013 Nov;84(5):496-500. doi: 10.1111/cge.12018. Epub 2012 Oct 10. PubMed PMID: 22978696; PubMed Central PMCID: PMC3788862.

SPACER

Emily Beck:

Beck EA, Llopart A. Widespread Positive Selection Drives Differentiation of Centromeric Proteins in the Drosophila melanogaster subgroup. Sci Rep. 2015 Nov 25;5:17197. doi: 10.1038/srep17197. PubMed PMID: 26603658; PubMed Central PMCID: PMC4658640.

Beck EA, Thompson AC, Sharbrough J, Brud E, Llopart A. Gene flow between Drosophila yakuba and Drosophila santomea in subunit V of cytochrome c oxidase: A potential case of cytonuclear cointrogression. Evolution. 2015 Aug;69(8):1973-86. doi: 10.1111/evo.12718. Epub 2015 Aug 8. PubMed PMID: 26155926; PubMed Central PMCID: PMC5042076.

SPACER

Emily Petruccelli:

Petruccelli E, Lansdon P, Kitamoto T. Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy. PLoS One. 2015 Sep 11;10(9):e0137758. doi: 10.1371/journal.pone.0137758. eCollection 2015. PubMed PMID: 26361221; PubMed Central PMCID: PMC4567262.

Petruccelli E, Li Q, Rao Y, Kitamoto T. The Unique Dopamine/Ecdysteroid Receptor Modulates Ethanol-Induced Sedation in Drosophila. J Neurosci. 2016 Apr 20;36(16):4647-57. doi: 10.1523/JNEUROSCI.3774-15.2016. PubMed PMID: 27098705; PubMed Central PMCID: PMC4837687.

SPACER

Emily Schindler:

Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet. 2011 Jan;129(1):91-100. doi:10.1007/s00439-010-0904-6. Epub 2010 Oct 28. PubMed PMID: 20981449; PubMed Central PMCID: PMC3613489.

Mullins RF, Kuehn MH, Radu RA, Enriquez GS, East JS, Schindler EI, Travis GH, Stone EM. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Invest Ophthalmol Vis Sci. 2012 Apr 18;53(4):1883-94. doi: 10.1167/iovs.12-9477. PubMed PMID: 22395892; PubMed Central PMCID: PMC3995570.

Schindler EI, Nylen EL, Ko AC, Affatigato LM, Heggen AC, Wang K, Sheffield VC, Stone EM. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet. 2010 Oct 1;19(19):3693-701. doi:10.1093/hmg/ddq284. Epub 2010 Jul 20. PubMed PMID: 20647261; PubMed Central PMCID: PMC2935854.

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. Predicting the pathogenicity of RPE65 mutations. Hum Mutat. 2009 Aug;30(8):1183-8. doi: 10.1002/humu.21033. PubMed PMID: 19431183; PubMed Central PMCID: PMC2717180.

SPACER

Eric Monson:

Monson ET, Pirooznia M, Parla J, Kramer M, Goes FS, Gaine ME, Gaynor SC, de Klerk K, Jancic D, Karchin R, McCombie WR, Zandi PP, Potash JB, Willour VL. Assessment of Whole-Exome Sequence Data in Attempted Suicide within a Bipolar Disorder Cohort. Mol Neuropsychiatry. 2017 Jul;3(1):1-11. doi: 10.1159/000454773. Epub 2017 Jan 18. PubMed PMID: 28879196; PubMed Central PMCID: PMC5582499.

Breen ME, Gaynor SC, Monson ET, de Klerk K, Parsons MG, Braun TA, DeLuca AP, Zandi PP, Potash JB, Willour VL. Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. PLoS One. 2016 Dec 28;11(12):e0169158. doi: 10.1371/journal.pone.0169158. eCollection 2016. PubMed PMID: 28030643; PubMed Central PMCID: PMC5193409.

Zai G, Alberry B, Arloth J, Bánlaki Z, Bares C, Boot E, Camilo C, Chadha K, Chen Q, Cole CB, Cost KT, Crow M, Ekpor I, Fischer SB, Flatau L, Gagliano S, Kirli U, Kukshal P, Labrie V, Lang M, Lett TA, Maffioletti E, Maier R, Mihaljevic M, Mittal K, Monson ET, O’Brien NL, Østergaard SD, Ovenden E, Patel S, Peterson RE, Pouget JG, Rovaris DL, Seaman L, Shankarappa B, Tsetsos F, Vereczkei A, Wang C, Xulu K, Yuen RK, Zhao J, Zai CC, Kennedy JL. Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015. Psychiatr Genet. 2016 Dec;26(6):229-257. PubMed PMID: 27606929; PubMed Central PMCID: PMC5134913.

Gaynor SC, Breen ME, Monson ET, de Klerk K, Parsons M, DeLuca AP, Scheetz TE, Zandi PP, Potash JB, Willour VL. A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1080-1087. doi: 10.1002/ajmg.b.32479. Epub 2016 Aug 2. PubMed PMID: 27480506; PubMed Central PMCID: PMC5814248.

Monson ET, de Klerk K, Gaynor SC, Wagner AH, Breen ME, Parsons M, Casavant TL, Zandi PP, Potash JB, Willour VL. Whole-gene sequencing investigation of SAT1 in attempted suicide. Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):888-95. doi: 10.1002/ajmg.b.32462. Epub 2016 May 27. PubMed PMID: 27229768; PubMed Central PMCID: PMC5814250.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB. Exome Sequencing of Familial Bipolar Disorder. JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251. PubMed PMID: 27120077; PubMed Central PMCID: PMC5600716.

Wassink TH, Epping EA, Rudd D, Axelsen M, Ziebell S, Fleming FW, Monson E, Ho BC, Andreasen NC. Influence of ZNF804a on brain structure volumes and symptom severity in individuals with schizophrenia. Arch Gen Psychiatry. 2012 Sep;69(9):885-92. doi: 10.1001/archgenpsychiatry.2011.2116. PubMed PMID: 22945618; PubMed Central PMCID: PMC3852666.

SPACER

Erik Westin:

Westin ER, Aykin-Burns N, Buckingham EM, Spitz DR, Goldman FD, Klingelhutz AJ. The p53/p21(WAF/CIP) pathway mediates oxidative stress and senescence in dyskeratosis congenita cells with telomerase insufficiency. Antioxid Redox Signal. 2011 Mar 15;14(6):985-97. doi: 10.1089/ars.2010.3444. Epub 2011 Jan 17. PubMed PMID: 21087144; PubMed Central PMCID: PMC3043957.

Wassink TH, Losh M, Piven J, Sheffield VC, Ashley E, Westin ER, Patil SR. Systematic screening for subtelomeric anomalies in a clinical sample of autism. J Autism Dev Disord. 2007 Apr;37(4):703-8. PubMed PMID: 17004120.

Westin ER, Chavez E, Lee KM, Gourronc FA, Riley S, Lansdorp PM, Goldman FD, Klingelhutz AJ. Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. Aging Cell. 2007 Jun;6(3):383-94. Epub 2007 Mar 23. PubMed PMID: 17381549; PubMed Central PMCID: PMC2225626.

SPACER

Erin Burnight:

Sinn PL, Burnight ER, McCray PB Jr. Progress and prospects: prospects of repeated pulmonary administration of viral vectors. Gene Ther. 2009 Sep;16(9):1059-65. doi: 10.1038/gt.2009.87. Epub 2009 Jul 30. Review. PubMed PMID: 19641533; PubMed Central PMCID: PMC4376355.

Sinn PL, Penisten AK, Burnight ER, Hickey MA, Williams G, McCoy DM, Mallampalli RK, McCray PB. Gene transfer to respiratory epithelia with lentivirus pseudotyped with Jaagsiekte sheep retrovirus envelope glycoprotein. Hum Gene Ther. 2005 Apr;16(4):479-88. PubMed PMID: 15871679.

Sinn PL, Burnight ER, Hickey MA, Blissard GW, McCray PB Jr. Persistent gene expression in mouse nasal epithelia following feline immunodeficiency virus-based vector gene transfer. J Virol. 2005 Oct;79(20):12818-27. PubMed PMID: 16188984; PubMed Central PMCID: PMC1235842.

McNeill MS, Paulsen J, Bonde G, Burnight E, Hsu MY, Cornell RA. Cell death of melanophores in zebrafish trpm7 mutant embryos depends on melanin synthesis. J Invest Dermatol. 2007 Aug;127(8):2020-30. Epub 2007 Feb 8. PubMed PMID: 17290233.

Sinn PL, Burnight ER, Shen H, Fan H, McCray PB Jr. Inclusion of Jaagsiekte sheep retrovirus proviral elements markedly increases lentivirus vector pseudotyping efficiency. Mol Ther. 2005 Mar;11(3):460-9. PubMed PMID: 15727943.

SPACER

Ethan Bahl:

Lutter M, Bahl E, Hannah C, Hofammann D, Acevedo S, Cui H, McAdams CJ, Michaelson JJ. Novel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors. PLoS One. 2017 Aug 28;12(8):e0181556. doi: 10.1371/journal.pone.0181556. eCollection 2017. PubMed PMID: 28846695; PubMed Central PMCID: PMC5573281.

SPACER

Farah Alul:

Alul FY, Shchelochkov OA, Berberich SL, Murray JC, Ryckman KK. Genetic associations with neonatal thyroid-stimulating hormone levels. Pediatr Res. 2013 Apr;73(4 Pt 1):484-91. doi: 10.1038/pr.2013.18. Epub 2013 Jan 23. PubMed PMID: 23344678; PubMed Central PMCID: PMC3775497.

Alul FY, Cook DE, Shchelochkov OA, Fleener LG, Berberich SL, Murray JC, Ryckman KK. The heritability of metabolic profiles in newborn twins. Heredity (Edinb). 2013 Mar;110(3):253-8. doi: 10.1038/hdy.2012.75. Epub 2012 Nov 14. PubMed PMID: 23149456; PubMed Central PMCID: PMC3668651.

SPACER

Fedik Rahimov:

Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5. PubMed PMID: 18836445; PubMed Central PMCID: PMC2691688.

Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? Am J Med Genet A. 2006 Dec 1;140(23):2571-6. PubMed PMID: 17096318.

Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O’Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005 Dec;1(6):e64. Epub 2005 Dec 2. PubMed PMID: 16327884; PubMed Central PMCID: PMC1298935.

SPACER

Fengxiao Bu:

Osborne AJ, Breno M, Borsa NG, Bu F, Frémeaux-Bacchi V, Gale DP, van den Heuvel LP, Kavanagh D, Noris M, Pinto S, Rallapalli PM, Remuzzi G, Rodríguez de Cordoba S, Ruiz A, Smith RJH, Vieira-Martins P, Volokhina E, Wilson V, Goodship THJ, Perkins SJ. Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol. 2018 Apr 1;200(7):2464-2478. doi: 10.4049/jimmunol.1701695. Epub 2018 Mar 2. PubMed PMID: 29500241.

Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ. High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies. J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17. PubMed PMID:26283675; PubMed Central PMCID: PMC4814193.

Bu F, Meyer NC, Zhang Y, Borsa NG, Thomas C, Nester C, Smith RJ. Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome. Am J Kidney Dis. 2015 Jun;65(6):968-9. doi: 10.1053/j.ajkd.2015.02.326. Epub 2015 Mar 25. PubMed PMID: 25818678.

Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi:10.1371/journal.pgen.1005137. eCollection 2015 Mar. PubMed PMID: 25816005; PubMed Central PMCID: PMC4376867.

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. PubMed PMID: 24729539; PubMed Central PMCID: PMC4267685.

Bu F, Borsa N, Gianluigi A, Smith RJ. Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects. Clin Dev Immunol. 2012;2012:370426. doi: 10.1155/2012/370426. Epub 2012 Nov 8. Review. PubMed PMID: 23251215; PubMed Central PMCID: PMC3509654.

SPACER

Garrett Kaas:

Kasuya J, Kaas G, Kitamoto T. Effects of lithium chloride on the gene expression profiles in Drosophila heads. Neurosci Res. 2009 Aug;64(4):413-20. doi: 10.1016/j.neures.2009.04.015. Epub 2009 May 3. PubMed PMID: 19410610; PubMed Central PMCID: PMC2743107.

Kasuya J, Kaas GA, Kitamoto T. A putative amino acid transporter of the solute carrier 6 family is upregulated by lithium and is required for resistance to lithium toxicity in Drosophila. Neuroscience. 2009 Oct 20;163(3):825-37. doi: 10.1016/j.neuroscience.2009.07.027. Epub 2009 Jul 18. PubMed PMID: 19619614; PubMed Central PMCID: PMC2746873.

SPACER

Hannah Seberg:

Seberg HE, Van Otterloo E, Cornell RA. Beyond MITF: Multiple transcription factors directly regulate the cellular phenotype in melanocytes and melanoma. Pigment Cell Melanoma Res. 2017 Sep;30(5):454-466. doi: 10.1111/pcmr.12611. Review. PubMed PMID: 28649789; PubMed Central PMCID: PMC5939569.

Seberg HE, Van Otterloo E, Loftus SK, Liu H, Bonde G, Sompallae R, Gildea DE, Santana JF, Manak JR, Pavan WJ, Williams T, Cornell RA. TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genet. 2017 Mar 1;13(3):e1006636. doi: 10.1371/journal.pgen.1006636. eCollection 2017 Mar. PubMed PMID: 28249010; PubMed Central PMCID: PMC5352137.

Rambow F, Job B, Petit V, Gesbert F, Delmas V, Seberg H, Meurice G, Van Otterloo E, Dessen P, Robert C, Gautheret D, Cornell RA, Sarasin A, Larue L. New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis. Cell Rep. 2015 Oct 27;13(4):840-853. doi:10.1016/j.celrep.2015.09.037. Epub 2015 Oct 17. PubMed PMID: 26489459; PubMed Central PMCID: PMC5970542.

Laurette P, Strub T, Koludrovic D, Keime C, Le Gras S, Seberg H, Van Otterloo E, Imrichova H, Siddaway R, Aerts S, Cornell RA, Mengus G, Davidson I. Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells. Elife. 2015 Mar 24;4. doi:10.7554/eLife.06857. PubMed PMID: 25803486; PubMed Central PMCID: PMC4407272.

SPACER

Heather Brockway:

Brockway H, Balukoff N, Dean M, Alleva B, Smolikove S. The CSN/COP9 signalosome regulates synaptonemal complex assembly during meiotic prophase I of Caenorhabditis elegans. PLoS Genet. 2014 Nov 6;10(11):e1004757. doi: 10.1371/journal.pgen.1004757. eCollection 2014 Nov. PubMed PMID: 25375142; PubMed Central PMCID: PMC4222726.

Clemons AM, Brockway HM, Yin Y, Kasinathan B, Butterfield YS, Jones SJ, Colaiácovo MP, Smolikove S. akirin is required for diakinesis bivalent structure and synaptonemal complex disassembly at meiotic prophase I. Mol Biol Cell. 2013 Apr;24(7):1053-67. doi: 10.1091/mbc.E12-11-0841. Epub 2013 Jan 30. PubMed PMID: 23363597; PubMed Central PMCID: PMC3608493.

Lin L, Liu S, Brockway H, Seok J, Jiang P, Wong WH, Xing Y. Using high-density exon arrays to profile gene expression in closely related species. Nucleic Acids Res. 2009 Jul;37(12):e90. doi: 10.1093/nar/gkp420. Epub 2009 May 27. PubMed PMID:19474342; PubMed Central PMCID: PMC2709591.

SPACER

Igor Schneider:

Schneider I, Schneider PN, Derry SW, Lin S, Barton LJ, Westfall T, Slusarski DC. Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning. Dev Biol. 2010 Dec 1;348(1):22-33. doi: 10.1016/j.ydbio.2010.08.040. Epub 2010 Sep 19. PubMed PMID: 20858476; PubMed Central PMCID: PMC2976797.

Freisinger CM, Schneider I, Westfall TA, Slusarski DC. Calcium dynamics integrated into signalling pathways that influence vertebrate axial patterning. Philos Trans R Soc Lond B Biol Sci. 2008 Apr 12;363(1495):1377-85. doi: 10.1098/rstb.2007.2255. Review. PubMed PMID: 18198152; PubMed Central PMCID: PMC2610126.

Schneider I, Houston DW, Rebagliati MR, Slusarski DC. Calcium fluxes in dorsal forerunner cells antagonize beta-catenin and alter left-right patterning. Development. 2008 Jan;135(1):75-84. Epub 2007 Nov 28. PubMed PMID: 18045845.

Zhang Y, Yeh JR, Mara A, Ju R, Hines JF, Cirone P, Griesbach HL, Schneider I, Slusarski DC, Holley SA, Crews CM. A chemical and genetic approach to the mode of action of fumagillin. Chem Biol. 2006 Sep;13(9):1001-9. PubMed PMID: 16984890; PubMed Central PMCID: PMC2583369.

SPACER

Janine Martin:

Martin JN, Wolken N, Brown T, Dauer WT, Ehrlich ME, Gonzalez-Alegre P. Lethal toxicity caused by expression of shRNA in the mouse striatum: implications for therapeutic design. Gene Ther. 2011 Jul;18(7):666-73. doi: 10.1038/gt.2011.10. Epub 2011 Mar 3. PubMed PMID: 21368900; PubMed Central PMCID: PMC3131434.

Martin JN, Bair TB, Bode N, Dauer WT, Gonzalez-Alegre P. Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia. Neuroscience. 2009 Dec 1;164(2):563-72. doi: 10.1016/j.neuroscience.2009.07.068. Epub 2009 Aug 6. PubMed PMID: 19665049; PubMed Central PMCID: PMC2774817.

SPACER

Jason Weirather:

Weirather JL, Duggal P, Nascimento EL, Monteiro GR, Martins DR, Lacerda HG, Fakiola M, Blackwell JM, Jeronimo SM, Wilson ME. Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil. Ann Hum Genet. 2017 Jan;81(1):41-48. doi: 10.1111/ahg.12180. Epub 2017 Jan 4. PubMed PMID: 28054334; PubMed Central PMCID: PMC5298939.

Weirather JL, Duggal P, Nascimento EL, Monteiro GR, Martins DR, Lacerda HG, Fakiola M, Blackwell JM, Jeronimo SM, Wilson ME. Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil. Infect Genet Evol. 2016 Sep;43:1-5. doi: 10.1016/j.meegid.2016.05.005. Epub 2016 May 4. PubMed PMID: 27155051; PubMed Central PMCID: PMC5005107.

de la Garza G, Schleiffarth JR, Dunnwald M, Mankad A, Weirather JL, Bonde G, Butcher S, Mansour TA, Kousa YA, Fukazawa CF, Houston DW, Manak JR, Schutte BC, Wagner DS, Cornell RA. Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3. J Invest Dermatol. 2013 Jan;133(1):68-77. doi: 10.1038/jid.2012.269. Epub 2012 Aug 30. Erratum in: J Invest Dermatol. 2013 Mar;133(3):859. PubMed PMID: 22931925; PubMed Central PMCID: PMC3541433.

Weirather JL, Wilson ME, Donelson JE. Mapping of VSG similarities in Trypanosoma brucei. Mol Biochem Parasitol. 2012 Feb;181(2):141-52. doi:10.1016/j.molbiopara.2011.10.011. Epub 2011 Oct 28. PubMed PMID: 22079099; PubMed Central PMCID: PMC3268917.

Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13. PubMed PMID: 21574244; PubMed Central PMCID: PMC3753799.

SPACER

Jessica Ponce:

Hall DD, Ponce JM, Chen B, Spitler KM, Alexia A, Oudit GY, Song LS, Grueter CE. Ectopic expression of Cdk8 induces eccentric hypertrophy and heart failure. JCI Insight. 2017 Aug 3;2(15). pii: 92476. doi: 10.1172/jci.insight.92476. [Epub ahead of print] PubMed PMID: 28768905; PubMed Central PMCID: PMC5543923.

Dewey CM, Spitler KM, Ponce JM, Hall DD, Grueter CE. Cardiac-Secreted Factors as Peripheral Metabolic Regulators and Potential Disease Biomarkers. J Am Heart Assoc. 2016 May 31;5(6). pii: e003101. doi: 10.1161/JAHA.115.003101. PubMed PMID: 27247337; PubMed Central PMCID: PMC4937259.

SPACER

Ji Wan:

Monteys AM, Spengler RM, Wan J, Tecedor L, Lennox KA, Xing Y, Davidson BL. Structure and activity of putative intronic miRNA promoters. RNA. 2010 Mar;16(3):495-505. doi: 10.1261/rna.1731910. Epub 2010 Jan 14. PubMed PMID: 20075166; PubMed Central PMCID: PMC2822915

SPACER

Jill Hauer:

Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ. High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies. J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17. PubMed PMID:26283675; PubMed Central PMCID: PMC4814193

SPACER

Jinlu Cai:

Xu J, Li G, Wang Z, Si L, He S, Cai J, Huang J, Donovan MD. The role of L-type amino acid transporters in the uptake of glyphosate across mammalian epithelial tissues. Chemosphere. 2016 Feb;145:487-94. doi: 10.1016/j.chemosphere.2015.11.062. Epub 2015 Dec 14. PubMed PMID: 26701683.

Cai J, Keen HL, Sigmund CD, Casavant TL. Coex-Rank: An approach incorporating co-expression information for combined analysis of microarray data. J Integr Bioinform. 2012 Mar 1;9(1):32-43. doi: 10.1515/jib-2012-208. PubMed PMID: 29220886.

SPACER

Joe Giacalone:

Burnight ER, Giacalone JC, Cooke JA, Thompson JR, Bohrer LR, Chirco KR, Drack AV, Fingert JH, Worthington KS, Wiley LA, Mullins RF, Stone EM, Tucker BA. CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration. Prog Retin Eye Res. 2018 Mar 22. pii: S1350-9462(17)30079-4. doi:10.1016/j.preteyeres.2018.03.003. [Epub ahead of print] Review. PubMed PMID:29578069.

Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, Tucker BA. CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells. Curr Protoc Stem Cell Biol. 2018 Feb 28;44:5B.7.1-5B.7.22. doi: 10.1002/cpsc.46. PubMed PMID: 29512106; PubMed Central PMCID: PMC5846340.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27. PubMed PMID: 28559085; PubMed Central PMCID: PMC5565704.

Songstad AE, Worthington KS, Chirco KR, Giacalone JC, Whitmore SS, Anfinson KR, Ochoa D, Cranston CM, Riker MJ, Neiman M, Stone EM, Mullins RF, Tucker BA. Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium. Stem Cells Transl Med. 2017 Jun;6(6):1533-1546. doi: 10.1002/sctm.16-0399. Epub 2017 May 5. PubMed PMID:28474838; PubMed Central PMCID: PMC5689757.

Giacalone JC, Wiley LA, Burnight ER, Songstad AE, Mullins RF, Stone EM, Tucker BA. Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease. Stem Cells Transl Med. 2016 Feb;5(2):132-40. doi:10.5966/sctm.2015-0206. Epub 2015 Dec 18. Review. PubMed PMID: 26683869; PubMed Central PMCID: PMC4729558.

SPACER

Johnny Cruz Corchado:

Ealy M, Meyer NC, Corchado JC, Schrauwen I, Bress A, Pfister M, Van Camp G, Smith RJ. Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling. Otol Neurotol. 2014 Mar;35(3):395-400. doi: 10.1097/MAO.0000000000000244. PubMed PMID: 24492129; PubMed Central PMCID:PMC3945298.

Adrian AB, Corchado JC, Comeron JM. Predictive Models of Recombination Rate. Variation across the Drosophila melanogaster Genome. Genome Biol Evol. 2016 Sep 2;8(8):2597-612. doi: 10.1093/gbe/evw181. PubMed PMID: 27492232; PubMed Central PMCID: PMC5010912.

SPACER

Joshua Fletcher:

Fletcher JR, Crane DD, Wehrly TD, Martens CA, Bosio CM, Jones BD. The Ability to Acquire Iron Is Inversely Related to Virulence and the Protective Efficacy of Francisella tularensis Live Vaccine Strain. Front Microbiol. 2018 Apr 4;9:607. doi: 10.3389/fmicb.2018.00607. eCollection 2018. PubMed PMID: 29670588; PubMed Central PMCID: PMC5893802.

Kinkead LC, Whitmore LC, McCracken JM, Fletcher JR, Ketelsen BB, Kaufman JW, Jones BD, Weiss DS, Barker JH, Allen LH. Bacterial lipoproteins and other factors released by Francisella tularensis modulate human neutrophil lifespan: Effects of a TLR1 SNP on apoptosis inhibition. Cell Microbiol. 2018 Feb;20(2). doi:10.1111/cmi.12795. Epub 2017 Nov 21. PubMed PMID: 29063667; PubMed Central PMCID: PMC5764820.

Roberts LM, Crane DD, Wehrly TD, Fletcher JR, Jones BD, Bosio CM. Inclusion of Epitopes That Expand High-Avidity CD4+ T Cells Transforms Subprotective Vaccines to Efficacious Immunogens against Virulent Francisella tularensis. J Immunol. 2016 Oct 1;197(7):2738-47. doi: 10.4049/jimmunol.1600879. Epub 2016 Aug 19. PubMed PMID: 27543611; PubMed Central PMCID: PMC5026927.

Chen L, Valentine JL, Huang CJ, Endicott CE, Moeller TD, Rasmussen JA, Fletcher JR, Boll JM, Rosenthal JA, Dobruchowska J, Wang Z, Heiss C, Azadi P, Putnam D, Trent MS, Jones BD, DeLisa MP. Outer membrane vesicles displaying engineered glycotopes elicit protective antibodies. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3609-18. doi: 10.1073/pnas.1518311113. Epub 2016 Jun 6. PubMed PMID: 27274048; PubMed Central PMCID: PMC4932928.

Faron M, Fletcher JR, Rasmussen JA, Apicella MA, Jones BD. Interactions of Francisella tularensis with Alveolar Type II Epithelial Cells and the Murine Respiratory Epithelium. PLoS One. 2015 May 26;10(5):e0127458. doi: 10.1371/journal.pone.0127458. eCollection 2015. PubMed PMID: 26010977; PubMed Central PMCID: PMC4444194.

Rasmussen JA, Fletcher JR, Long ME, Allen LA, Jones BD. Characterization of Francisella tularensis Schu S4 mutants identified from a transposon library screened for O-antigen and capsule deficiencies. Front Microbiol. 2015 May 5;6:338. doi: 10.3389/fmicb.2015.00338. eCollection 2015. PubMed PMID: 25999917; PubMed Central PMCID: PMC4419852.

Jones BD, Faron M, Rasmussen JA, Fletcher JR. Uncovering the components of the Francisella tularensis virulence stealth strategy. Front Cell Infect Microbiol. 2014 Mar 7;4:32. doi: 10.3389/fcimb.2014.00032. eCollection 2014. Review. PubMed PMID: 24639953; PubMed Central PMCID: PMC3945745.

Faron M, Fletcher JR, Rasmussen JA, Long ME, Allen LA, Jones BD. The Francisella tularensis migR, trmE, and cphA genes contribute to F. tularensis pathogenicity island gene regulation and intracellular growth by modulation of the stress alarmone ppGpp. Infect Immun. 2013 Aug;81(8):2800-11. doi:10.1128/IAI.00073-13. Epub 2013 May 28. PubMed PMID: 23716606; PubMed Central PMCID: PMC3719569.

SPACER

Juan Santana:

Seberg HE, Van Otterloo E, Loftus SK, Liu H, Bonde G, Sompallae R, Gildea DE, Santana JF, Manak JR, Pavan WJ, Williams T, Cornell RA. TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF. PLoS Genet. 2017 Mar 1;13(3):e1006636. doi: 10.1371/journal.pgen.1006636. eCollection 2017 Mar. PubMed PMID: 28249010; PubMed Central PMCID: PMC5352137.

SPACER

Kacie Meyer:

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Pax6 3′ deletion results in aniridia, autism and mental retardation. Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Review. PubMed PMID: 18322702; PubMed Central PMCID: PMC2719768.

Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet. 2011 Jan;129(1):91-100. doi:10.1007/s00439-010-0904-6. Epub 2010 Oct 28. PubMed PMID: 20981449; PubMed Central PMCID: PMC3613489.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord. 2009 Dec;1(4):292-301. doi:10.1007/s11689-009-9013-z. Epub 2009 May 27. PubMed PMID: 21547721; PubMed Central PMCID: PMC3164008.

Autism Genome Project Consortium, Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar;39(3):319-28. Epub 2007 Feb 18. Erratum in: Nat Genet. 2007 Oct;39(10):1285. PubMed PMID: 17322880; PubMed Central PMCID: PMC4867008.

SPACER

Karen Clark:

Ma MCJ, Pettus JM, Jakoubek JA, Traxler MG, Clark KC, Mennie AK, Kwitek AE. Contribution of independent and pleiotropic genetic effects in the metabolic syndrome in a hypertensive rat. PLoS One. 2017 Aug 8;12(8):e0182650. doi:10.1371/journal.pone.0182650. eCollection 2017. PubMed PMID: 28792545; PubMed Central PMCID: PMC5549746.

SPACER

Katie Weihbrecht:

Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19691-6. doi:10.1073/pnas.1210916109. Epub 2012 Nov 12. PubMed PMID: 23150559; PubMed Central PMCID: PMC3511769.

Weihbrecht K, Goar WA, Carter CS, Sheffield VC, Seo S. Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. PLoS One. 2018 Feb 14;13(2):e0192755. doi: 10.1371/journal.pone.0192755. eCollection 2018. PubMed PMID: 29444170; PubMed Central PMCID: PMC5812623.

Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Med Res Arch. 2017 Sep;5(9). doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18. PubMed PMID: 29457131; PubMed Central PMCID: PMC5814251.

SPACER

Kellie Schaefer:

Schaefer K, Mahajan M, Gore A, Tsang SH, Bassuk AG, Mahajan VB. Calpain-5 gene expression in the mouse eye and brain. BMC Res Notes. 2017 Nov 21;10(1):602. doi:10.1186/s13104-017-2927-8. PubMed PMID: 29157313; PubMed Central PMCID:PMC5697233.

Cho GY, Abdulla Y, Sengillo JD, Justus S, Schaefer KA, Bassuk AG, Tsang SH, Mahajan VB. CRISPR-mediated Ophthalmic Genome Surgery. Curr Ophthalmol Rep. 2017 Sep;5(3):199-206. doi: 10.1007/s40135-017-0144-1. Epub 2017 Jun 15. PubMed PMID: 28966884; PubMed Central PMCID: PMC5613978.

Schaefer KA, Wu WH, Colgan DF, Tsang SH, Bassuk AG, Mahajan VB. Unexpected mutations after CRISPR-Cas9 editing in vivo. Nat Methods. 2017 May 30;14(6):547-548. doi: 10.1038/nmeth.4293. PubMed PMID: 28557981; PubMed Central PMCID: PMC5796662.

SPACER

Kwo Wei David Ho:

Elahi F, Ho KW. Successful Management of Refractory Headache and Facial Pain due to Cavernous Sinus Meningioma with Sphenopalatine Ganglion Radiofrequency. Case Rep Neurol Med. 2014;2014:923516. doi: 10.1155/2014/923516. Epub 2014 Sep 29. PubMed PMID: 25343051; PubMed Central PMCID: PMC4197886.

Elahi F, Ho KW. Anesthesia dolorosa of trigeminal nerve, a rare complication of acoustic neuroma surgery. Case Rep Neurol Med. 2014;2014:496794. doi: 10.1155/2014/496794. Epub 2014 Sep 25. PubMed PMID: 25328729; PubMed Central PMCID: PMC4195256.

Iwabuchi S, Koh JY, Wang K, Ho KW, Harata NC. Minimal Change in the cytoplasmic calcium dynamics in striatal GABAergic neurons of a DYT1 dystonia knock-in mouse model. PLoS One. 2013 Nov 19;8(11):e80793. doi: 10.1371/journal.pone.0080793. eCollection 2013. PubMed PMID: 24260480; PubMed Central PMCID: PMC3834333.

Kakazu Y, Koh JY, Ho KW, Gonzalez-Alegre P, Harata NC. Synaptic vesicle recycling is enhanced by torsinA that harbors the DYT1 dystonia mutation. Synapse. 2012 May;66(5):453-64. doi: 10.1002/syn.21534. Epub 2012 Feb 15. PubMed PMID: 22213465.

SPACER

Lea Davis:

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord. 2009 Dec;1(4):292-301. doi: 10.1007/s11689-009-9013-z. Epub 2009 May 27. PubMed PMID: 21547721; PubMed Central PMCID: PMC3164008.

Davis LK, Hazlett HC, Librant AL, Nopoulos P, Sheffield VC, Piven J, Wassink TH. Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1145-51. doi: 10.1002/ajmg.b.30738. PubMed PMID: 18361446; PubMed Central PMCID: PMC2752707.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Pax6 3′ deletion results in aniridia, autism and mental retardation. Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Review. PubMed PMID: 18322702; PubMed Central PMCID: PMC2719768.

SPACER

Leah Biggs:

Le M, Naridze R, Morrison J, Biggs LC, Rhea L, Schutte BC, Kaartinen V, Dunnwald M. Transforming growth factor Beta 3 is required for excisional wound repair in vivo. PLoS One. 2012;7(10):e48040. doi: 10.1371/journal.pone.0048040. Epub 2012 Oct 26. PubMed PMID: 23110169; PubMed Central PMCID: PMC3482237.

Biggs LC, Goudy SL, Dunnwald M. Palatogenesis and cutaneous repair: A two-headed coin. Dev Dyn. 2015 Mar;244(3):289-310. doi: 10.1002/dvdy.24224. Epub 2014 Nov 25. Review. PubMed PMID: 25370680; PubMed Central PMCID: PMC4344910.

Biggs LC, Naridze RL, DeMali KA, Lusche DF, Kuhl S, Soll DR, Schutte BC, Dunnwald M. Interferon regulatory factor 6 regulates keratinocyte migration. J Cell Sci. 2014 Jul 1;127(Pt 13):2840-8. doi: 10.1242/jcs.139246. Epub 2014 Apr 28. PubMed PMID: 24777480; PubMed Central PMCID: PMC4075356.

Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934-42. doi: 10.1002/bdra.23076. Epub 2012 Sep 24. PubMed PMID: 23008150; PubMed Central PMCID: PMC3501616.

Biggs LC, Rhea L, Schutte BC, Dunnwald M. Interferon regulatory factor 6 is necessary, but not sufficient, for keratinocyte differentiation. J Invest Dermatol. 2012 Jan;132(1):50-8. doi: 10.1038/jid.2011.272. Epub 2011 Sep 15. PubMed PMID: 21918538; PubMed Central PMCID: PMC3237898.

SPACER

Lily Paemka:

Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PubMed PMID: 25763846; PubMed Central PMCID: PMC4357451.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PubMed PMID: 24312498; PubMed Central PMCID: PMC3849077.

Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, Paemka L, Wassink T, Meyer K, Bing X, El-Shanti H, Usachev YM, Ueno N, Manak JR, Shepherd AJ, Ferguson PJ, Darbro BW, Richerson GB, Mohapatra DP, Wemmie JA, Bassuk AG. Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28. Erratum in: Mol Psychiatry. 2014 Jun;19(6):742. Manak, R J [corrected to Manak, J R]. PubMed PMID: 23711981; PubMed Central PMCID: PMC4163749.

SPACER

Lisa Lansdon:

Mears K, Bakall B, Harney LA, Penticoff JA, Stone EM. Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. JAMA Ophthalmol. 2015 Jun;133(6):720-1. doi: 10.1001/jamaophthalmol.2015.199. PubMed PMID: 25764055.

Lansdon LA, Darbro BW, Petrin AL, Hulstrand AM, Standley JM, Brouillette RB, Long A, Mansilla MA, Cornell RA, Murray JC, Houston DW, Manak JR. Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans. Genetics. 2018 Jan;208(1):283-296. doi: 10.1534/genetics.117.300535. Epub 2017 Nov 21. PubMed PMID: 29162626; PubMed Central PMCID: PMC5753863.

Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21. PubMed PMID: 28825856; PubMed Central PMCID: PMC5613887

SPACER

Man Chun John Ma:

Ma MC, Atanur SS, Aitman TJ, Kwitek AE. Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome. BMC Genomics. 2014 Mar 14;15:197. doi: 10.1186/1471-2164-15-197. PubMed PMID: 24628878; PubMed Central PMCID: PMC4003853.

Wang J, Ma MC, Mennie AK, Pettus JM, Xu Y, Lin L, Traxler MG, Jakoubek J, Atanur SS, Aitman TJ, Xing Y, Kwitek AE. Systems biology with high-throughput sequencing reveals genetic mechanisms underlying the metabolic syndrome in the Lyon hypertensive rat. Circ Cardiovasc Genet. 2015 Apr;8(2):316-26. doi:10.1161/CIRCGENETICS.114.000520. Epub 2015 Jan 8. PubMed PMID: 25573024; PubMed Central PMCID: PMC4406788.

Ma MCJ, Pettus JM, Jakoubek JA, Traxler MG, Clark KC, Mennie AK, Kwitek AE. Contribution of independent and pleiotropic genetic effects in the metabolic syndrome in a hypertensive rat. PLoS One. 2017 Aug 8;12(8):e0182650. doi: 10.1371/journal.pone.0182650. eCollection 2017. PubMed PMID: 28792545; PubMed Central PMCID: PMC5549746.

Martín-Gálvez D, Dunoyer de Segonzac D, Ma MCJ, Kwitek AE, Thybert D, Flicek P. Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. BMC Genomics. 2017 Dec 22;18(1):986. doi:10.1186/s12864-017-4351-9. PubMed PMID: 29272997; PubMed Central PMCID: PMC5741965.

SPACER

Maria Asuncion (Zen) Abrera Abeleda:

Abrera-Abeleda MA, Nishimura C, Frees K, Jones M, Maga T, Katz LM, Zhang Y, Smith RJ. Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol. 2011 Aug;22(8):1551-9. doi: 10.1681/ASN.2010080795. Epub 2011 Jul 22. PubMed PMID: 21784901; PubMed Central PMCID: PMC3148710.

Abrera-Abeleda MA, Xu Y, Pickering MC, Smith RJ, Sethi S. Mesangial immune complex glomerulonephritis due to complement factor D deficiency. Kidney Int. 2007 Jun;71(11):1142-7. Epub 2007 Apr 4. PubMed PMID: 17410102.

Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet. 2006 Jul;43(7):582-9. Epub 2005 Nov 18. PubMed PMID:16299065; PubMed Central PMCID: PMC2564553.

SPACER

Matt Strub:

Meyerholz DK, Stoltz DA, Gansemer ND, Ernst SE, Cook DP, Strub MD, LeClair EN, Barker CK, Adam RJ, Leidinger MR, Gibson-Corley KN, Karp PH, Welsh MJ, McCray PB Jr. Lack of cystic fibrosis transmembrane conductance regulator disrupts fetal airway development in pigs. Lab Invest. 2018 Feb 21. doi:10.1038/s41374-018-0026-7. [Epub ahead of print] PubMed PMID: 29467455.

SPACER

Matthew Faron:

Jones BD, Faron M, Rasmussen JA, Fletcher JR. Uncovering the components of the Francisella tularensis virulence stealth strategy. Front Cell Infect Microbiol. 2014 Mar 7;4:32. doi: 10.3389/fcimb.2014.00032. eCollection 2014. Review. PubMed PMID: 24639953; PubMed Central PMCID: PMC3945745.

Ulland TK, Janowski AM, Buchan BW, Faron M, Cassel SL, Jones BD, Sutterwala FS. Francisella tularensis live vaccine strain folate metabolism and pseudouridine synthase gene mutants modulate macrophage caspase-1 activation. Infect Immun. 2013 Jan;81(1):201-8. doi: 10.1128/IAI.00991-12. Epub 2012 Oct 31. PubMed PMID: 23115038; PubMed Central PMCID: PMC3536133.

Faron M, Fletcher JR, Rasmussen JA, Long ME, Allen LA, Jones BD. The Francisella tularensis migR, trmE, and cphA genes contribute to F. tularensis pathogenicity island gene regulation and intracellular growth by modulation of the stress alarmone ppGpp. Infect Immun. 2013 Aug;81(8):2800-11. doi:10.1128/IAI.00073-13. Epub 2013 May 28. PubMed PMID: 23716606; PubMed Central PMCID: PMC3719569.

Faron M, Fletcher JR, Rasmussen JA, Apicella MA, Jones BD. Interactions of Francisella tularensis with Alveolar Type II Epithelial Cells and the Murine Respiratory Epithelium. PLoS One. 2015 May 26;10(5):e0127458. doi: 10.1371/journal.pone.0127458. eCollection 2015. PubMed PMID: 26010977; PubMed Central PMCID: PMC4444194.

Aldrich BT, Kasuya J, Faron M, Ishimoto H, Kitamoto T. The amnesiac gene is involved in the regulation of thermal nociception in Drosophila melanogaster. J Neurogenet. 2010 Mar;24(1):33-41. doi: 10.3109/01677060903419751. PubMed PMID: 19995327; PubMed Central PMCID: PMC3032918.

SPACER

Matthew Jorgenson:

Jorgenson MA, Chen Y, Yahashiri A, Popham DL, Weiss DS. The bacterial septal ring protein RlpA is a lytic transglycosylase that contributes to rod shape and daughter cell separation in Pseudomonas aeruginosa. Mol Microbiol. 2014 Jul;93(1):113-28. doi: 10.1111/mmi.12643. Epub 2014 May 23. PubMed PMID: 24806796; PubMed Central PMCID: PMC4086221.

Yahashiri A, Jorgenson MA, Weiss DS. Bacterial SPOR domains are recruited to septal peptidoglycan by binding to glycan strands that lack stem peptides. Proc Natl Acad Sci U S A. 2015 Sep 8;112(36):11347-52. doi: 10.1073/pnas.1508536112. Epub 2015 Aug 24. PubMed PMID: 26305949; PubMed Central PMCID: PMC4568695.

Yahashiri A, Jorgenson MA, Weiss DS. The SPOR Domain, a Widely Conserved Peptidoglycan Binding Domain That Targets Proteins to the Site of Cell Division. J Bacteriol. 2017 Jun 27;199(14). pii: e00118-17. doi: 10.1128/JB.00118-17. Print 2017 Jul 15. Review. PubMed PMID: 28396350; PubMed Central PMCID: PMC5494741.

SPACER

Megan Ealy:

Ealy M, Smith RJ. Otosclerosis. Adv Otorhinolaryngol. 2011;70:122-9. doi:10.1159/000322488. Epub 2011 Feb 24. Review. PubMed PMID: 21358194.

Ealy M, Lynch KA, Meyer NC, Smith RJ. The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population. Laryngoscope. 2011 Jun;121(6):1184-6. doi: 10.1002/lary.21778. Epub 2011 Apr 14. PubMed PMID: 21495045.

Ealy M, Schrauwen I, Van Camp G. Commentary on “Otosclerosis: thirty-year follow-up after surgery”. Ann Otol Rhinol Laryngol. 2011 Sep;120(9):615-6. PubMed PMID: 22032076.

Ealy M, Smith RJ. The genetics of otosclerosis. Hear Res. 2010 Jul;266(1-2):70-4. doi: 10.1016/j.heares.2009.07.002. Epub 2009 Jul 14. Review. PubMed PMID: 19607896.

Ealy M, Chen W, Ryu GY, Yoon JG, Welling DB, Hansen M, Madan A, Smith RJ. Gene expression analysis of human otosclerotic stapedial footplates. Hear Res. 2008 Jun;240(1-2):80-6. doi: 10.1016/j.heares.2008.03.001. Epub 2008 Mar 15. PubMed PMID: 18430532; PubMed Central PMCID: PMC2442649.

Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers CW, van de Heyning P, Vincent R, Offeciers E, Smith RH, van Camp G. Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. Ann Hum Genet. 2009 Mar;73(2):171-5. doi: 10.1111/j.1469-1809.2009.00505.x. Epub 2009 Jan 30. PubMed PMID: 19207109.

Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G. A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet. 2009 Mar;84(3):328-38. doi: 10.1016/j.ajhg.2009.01.023. Epub 2009 Feb 19. PubMed PMID: 19230858; PubMed Central PMCID: PMC2667982.

Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res. 2008 Apr;23(4):507-16. PubMed PMID: 18021008; PubMed Central PMCID: PMC2669162.

Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G. The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet. 2007 Sep 1;16(17):2021-30. Epub 2007 Jun 22. PubMed PMID: 17588962.

SPACER

Melissa Marchal:

Park S, Blaser S, Marchal MA, Houston DW, Sheets MD. A gradient of maternal Bicaudal-C controls vertebrate embryogenesis via translational repression of mRNAs encoding cell fate regulators. Development. 2016 Mar 1;143(5):864-71. doi:10.1242/dev.131359. Epub 2016 Jan 25. PubMed PMID: 26811381; PubMed CentralPMCID: PMC4813341.

SPACER

Michael Molumby:

Keeler AB, Molumby MJ, Weiner JA. Protocadherins branch out: Multiple roles in dendrite development. Cell Adh Migr. 2015;9(3):214-26. doi:10.1080/19336918.2014.1000069. Epub 2015 Apr 14. Review. PubMed PMID: 25869446; PubMed Central PMCID: PMC4594470.

Molumby MJ, Keeler AB, Weiner JA. Homophilic Protocadherin Cell-Cell Interactions Promote Dendrite Complexity. Cell Rep. 2016 May 3;15(5):1037-1050. doi: 10.1016/j.celrep.2016.03.093. Epub 2016 Apr 21. PubMed PMID: 27117416; PubMed Central PMCID: PMC4856576.

Molumby MJ, Anderson RM, Newbold DJ, Koblesky NK, Garrett AM, Schreiner D, Radley JJ, Weiner JA. γ-Protocadherins Interact with Neuroligin-1 and Negatively Regulate Dendritic Spine Morphogenesis. Cell Rep. 2017 Mar 14;18(11):2702-2714. doi: 10.1016/j.celrep.2017.02.060. PubMed PMID: 28297673; PubMed Central PMCID: PMC5418859

SPACER

Pamela Pretorius:

Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet. 2011 Apr 15;20(8):1625-32. doi: 10.1093/hmg/ddr039. Epub 2011 Jan 31. PubMed PMID: 21282186; PubMed Central PMCID: PMC3063988.

Pretorius PR, Baye LM, Nishimura DY, Searby CC, Bugge K, Yang B, Mullins RF, Stone EM, Sheffield VC, Slusarski DC. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genet. 2010 Mar 19;6(3):e1000884. doi: 10.1371/journal.pgen.1000884. PubMed PMID: 20333246; PubMed Central PMCID: PMC2841623

SPACER

Patricia Braun:

Subramanian S, Braun PR, Han S, Potash JB. Investigation of differential HDAC4 methylation patterns in eating disorders. Psychiatr Genet. 2018 Feb;28(1):12-15. doi: 10.1097/YPG.0000000000000189. PubMed PMID: 29256967; PubMed Central PMCID:PMC5741469.

Hing B, Ramos E, Braun P, McKane M, Jancic D, Tamashiro KL, Lee RS, Michaelson JJ, Druley TE, Potash JB. Adaptation of the targeted capture Methyl-Seq platform for the mouse genome identifies novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment. Epigenetics. 2015;10(7):581-96. doi:10.1080/15592294.2015.1045179. PubMed PMID: 25985232; PubMed Central PMCID:PMC4622595.

SPACER

Patricia Schneider:

Schneider PN, Olthoff JT, Matthews AJ, Houston DW. Use of fully modified 2′-O-methyl antisense oligos for loss-of-function studies in vertebrate embryos. Genesis. 2011 Mar;49(3):117-23. doi: 10.1002/dvg.20689. PubMed PMID: 21442720; PubMed Central PMCID: PMC3121920.

Schneider PN, Hulstrand AM, Houston DW. Fertilization of Xenopus oocytes using the host transfer method. J Vis Exp. 2010 Nov 2;(45). pii: 1864. doi:10.3791/1864. PubMed PMID: 21085101; PubMed Central PMCID: PMC3048584.

Schneider I, Schneider PN, Derry SW, Lin S, Barton LJ, Westfall T, Slusarski DC. Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning. Dev Biol. 2010 Dec 1;348(1):22-33. doi: 10.1016/j.ydbio.2010.08.040. Epub 2010 Sep 19. PubMed PMID: 20858476; PubMed Central PMCID: PMC2976797.

Hulstrand AM, Schneider PN, Houston DW. The use of antisense oligonucleotides in Xenopus oocytes. Methods. 2010 May;51(1):75-81. doi:10.1016/j.ymeth.2009.12.015. Epub 2010 Jan 5. Review. PubMed PMID: 20045732; PubMed Central PMCID: PMC2868083

SPACER

Patrick Lansdon:

Kaas GA, Kasuya J, Lansdon P, Ueda A, Iyengar A, Wu CF, Kitamoto T. Lithium-Responsive Seizure-Like Hyperexcitability Is Caused by a Mutation in the Drosophila Voltage-Gated Sodium Channel Gene paralytic. eNeuro. 2016 Nov 10;3(5). pii: ENEURO.0221-16.2016. eCollection 2016 Sep-Oct. PubMed PMID: 27844061; PubMed Central PMCID: PMC5103163.

Petruccelli E, Lansdon P, Kitamoto T. Exaggerated Nighttime Sleep and Defective Sleep Homeostasis in a Drosophila Knock-In Model of Human Epilepsy. PLoS One. 2015 Sep 11;10(9):e0137758. doi: 10.1371/journal.pone.0137758. eCollection 2015. PubMed PMID: 26361221; PubMed Central PMCID: PMC4567262.

SPACER

Pavitra Ramachandran:

Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL. Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Mol Ther. 2014 Sep;22(9):1635-42. doi: 10.1038/mt.2014.108. Epub 2014 Jun 16. PubMed PMID: 24930601; PubMed Central PMCID: PMC4435484.

Ramachandran PS, Bhattarai S, Singh P, Boudreau RL, Thompson S, Laspada AR, Drack AV, Davidson BL. RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration. PLoS One. 2014 Apr 23;9(4):e95362. doi: 10.1371/journal.pone.0095362. eCollection 2014. PubMed PMID: 24759684; PubMed Central PMCID: PMC3997397.

Ramachandran PS, Keiser MS, Davidson BL. Recent advances in RNA interference therapeutics for CNS diseases. Neurotherapeutics. 2013 Jul;10(3):473-85. doi:10.1007/s13311-013-0183-8. Review. PubMed PMID: 23589092; PubMed Central PMCID: PMC3701762.

SPACER

Ralph Hazlewood:

Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH. Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. Hum Mutat. 2015 Mar;36(3):369-78. doi: 10.1002/humu.22754. PubMed PMID: 25581579; PubMed Central PMCID: PMC4591753.

Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH. MMP19 expression in the human optic nerve. Mol Vis. 2016 Dec 14;22:1429-1436. eCollection 2016. PubMed PMID: 28003733; PubMed Central PMCID: PMC5166795

SPACER

Scott Whitmore:

Inamdar SM, Lankford CK, Laird JG, Novbatova G, Tatro N, Whitmore SS, Scheetz TE, Baker SA. Analysis of 14-3-3 isoforms expressed in photoreceptors. Exp Eye Res. 2018 May;170:108-116. doi: 10.1016/j.exer.2018.02.022. Epub 2018 Feb 24. PubMed PMID: 29486162; PubMed Central PMCID: PMC5924652.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27. PubMed PMID: 28559085; PubMed Central PMCID: PMC5565704.

Songstad AE, Worthington KS, Chirco KR, Giacalone JC, Whitmore SS, Anfinson KR, Ochoa D, Cranston CM, Riker MJ, Neiman M, Stone EM, Mullins RF, Tucker BA. Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium. Stem Cells Transl Med. 2017 Jun;6(6):1533-1546. doi: 10.1002/sctm.16-0399. Epub 2017 May 5. PubMed PMID: 28474838; PubMed Central PMCID: PMC5689757.

Sharma TP, Wiley LA, Whitmore SS, Anfinson KR, Cranston CM, Oppedal DJ, Daggett HT, Mullins RF, Tucker BA, Stone EM. Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa. Stem Cell Res. 2017 May;21:58-70. doi: 10.1016/j.scr.2017.03.005. Epub 2017 Mar 18. PubMed PMID: 28390992.

Chirco KR, Whitmore SS, Wang K, Potempa LA, Halder JA, Stone EM, Tucker BA, Mullins RF. Monomeric C-reactive protein and inflammation in age-related macular degeneration. J Pathol. 2016 Oct;240(2):173-83. doi: 10.1002/path.4766. Epub 2016 Sep 19. PubMed PMID: 27376713; PubMed Central PMCID: PMC5527328.

Kuehn MH, Lipsett KA, Menotti-Raymond M, Whitmore SS, Scheetz TE, David VA, O’Brien SJ, Zhao Z, Jens JK, Snella EM, Ellinwood NM, McLellan GJ. A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One. 2016 May 5;11(5):e0154412. doi: 10.1371/journal.pone.0154412. eCollection 2016. Erratum in: PLoS One. 2016;11(8):e0161517. PubMed PMID: 27149523; PubMed Central PMCID: PMC4858209.

Zeng S, Whitmore SS, Sohn EH, Riker MJ, Wiley LA, Scheetz TE, Stone EM, Tucker BA, Mullins RF. Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration. J Pathol. 2016 Feb;238(3):446-56. doi: 10.1002/path.4669. Epub 2015 Dec 24. PubMed PMID: 26564985; PubMed Central PMCID: PMC4900182.

Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24. PubMed PMID: 26507665; PubMed Central PMCID: PMC4695238.

DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. PubMed PMID: 26494905; PubMed Central PMCID: PMC4690490.

Whitmore SS, Sohn EH, Chirco KR, Drack AV, Stone EM, Tucker BA, Mullins RF. Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. Prog Retin Eye Res. 2015 Mar;45:1-29. doi: 10.1016/j.preteyeres.2014.11.005. Epub 2014 Dec 5. Review. PubMed PMID: 25486088; PubMed Central PMCID: PMC4339497.

Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Exp Eye Res. 2014 Dec;129:93-106. doi: 10.1016/j.exer.2014.11.001. Epub 2014 Nov 5. PubMed PMID: 25446321; PubMed Central PMCID: PMC4259842.

Sohn EH, Flamme-Wiese MJ, Whitmore SS, Wang K, Tucker BA, Mullins RF. Loss of CD34 expression in aging human choriocapillaris endothelial cells. PLoS One. 2014 Jan 21;9(1):e86538. doi: 10.1371/journal.pone.0086538. eCollection 2014. PubMed PMID: 24466138; PubMed Central PMCID: PMC3897719.

Whitmore SS, Braun TA, Skeie JM, Haas CM, Sohn EH, Stone EM, Scheetz TE, Mullins RF. Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells. Mol Vis. 2013 Nov 16;19:2274-97. eCollection 2013. PubMed PMID: 24265543; PubMed Central PMCID:PMC3834599.

Whitmore SS, Mullins RF. Transcriptome changes in age-related macular degeneration. BMC Med. 2012 Feb 27;10:21. doi: 10.1186/1741-7015-10-21. PubMed PMID: 22369667; PubMed Central PMCID: PMC3307472.

SPACER

Salleh Ehaideb:

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PubMed PMID: 24312498; PubMed Central PMCID: PMC3849077.

Ehaideb SN, Iyengar A, Ueda A, Iacobucci GJ, Cranston C, Bassuk AG, Gubb D, Axelrod JD, Gunawardena S, Wu CF, Manak JR. prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies. Proc Natl Acad Sci U S A. 2014 Jul 29;111(30):11187-92. doi: 10.1073/pnas.1403357111. Epub 2014 Jul 14. PubMed PMID: 25024231; PubMed Central PMCID: PMC4121842.

Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PubMed PMID: 25763846; PubMed Central PMCID: PMC4357451.

Ehaideb SN, Wignall EA, Kasuya J, Evans WH, Iyengar A, Koerselman HL, Lilienthal AJ, Bassuk AG, Kitamoto T, Manak JR. Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. Ann Clin Transl Neurol. 2016 Aug 3;3(9):695-707. doi: 10.1002/acn3.334. eCollection 2016 Sep. PubMed PMID: 27648459; PubMed Central PMCID: PMC5018582.

SPACER

Sam Trammell:

Trammell SA, Brenner C. Targeted, LCMS-based Metabolomics for Quantitative Measurement of NAD(+) Metabolites. Comput Struct Biotechnol J. 2013 May 27;4:e201301012. doi: 10.5936/csbj.201301012. eCollection 2013. Review. PubMed PMID: 24688693; PubMed Central PMCID: PMC3962138.

Trammell SA, Brenner C. NNMT: A Bad Actor in Fat Makes Good in Liver. Cell Metab. 2015 Aug 4;22(2):200-1. doi: 10.1016/j.cmet.2015.07.017. PubMed PMID:26244929; PubMed Central PMCID: PMC4768475.

Trammell SA, Yu L, Redpath P, Migaud ME, Brenner C. Nicotinamide Riboside Is a Major NAD+ Precursor Vitamin in Cow Milk. J Nutr. 2016 May;146(5):957-63. doi: 10.3945/jn.116.230078. Epub 2016 Apr 6. PubMed PMID: 27052539.

Ratajczak J, Joffraud M, Trammell SA, Ras R, Canela N, Boutant M, Kulkarni SS, Rodrigues M, Redpath P, Migaud ME, Auwerx J, Yanes O, Brenner C, Cantó C. NRK1 controls nicotinamide mononucleotide and nicotinamide riboside metabolism in mammalian cells. Nat Commun. 2016 Oct 11;7:13103. doi: 10.1038/ncomms13103. PubMed PMID: 27725675; PubMed Central PMCID: PMC5476803.

Trammell SA, Schmidt MS, Weidemann BJ, Redpath P, Jaksch F, Dellinger RW, Li Z, Abel ED, Migaud ME, Brenner C. Nicotinamide riboside is uniquely and orally bioavailable in mice and humans. Nat Commun. 2016 Oct 10;7:12948. doi: 10.1038/ncomms12948. PubMed PMID: 27721479; PubMed Central PMCID: PMC5062546.

Trammell SA, Weidemann BJ, Chadda A, Yorek MS, Holmes A, Coppey LJ, Obrosov A, Kardon RH, Yorek MA, Brenner C. Nicotinamide Riboside Opposes Type 2 Diabetes and Neuropathy in Mice. Sci Rep. 2016 May 27;6:26933. doi: 10.1038/srep26933. PubMed PMID: 27230286; PubMed Central PMCID: PMC4882590.

Wilsbacher JL, Cheng M, Cheng D, Trammell SAJ, Shi Y, Guo J, Koeniger SL, Kovar PJ, He Y, Selvaraju S, Heyman HR, Sorensen BK, Clark RF, Hansen TM, Longenecker KL, Raich D, Korepanova AV, Cepa S, Towne DL, Abraham VC, Tang H, Richardson PL, McLoughlin SM, Badagnani I, Curtin ML, Michaelides MR, Maag D, Buchanan FG, Chiang GG, Gao W, Rosenberg SH, Brenner C, Tse C. Discovery and Characterization of Novel Nonsubstrate and Substrate NAMPT Inhibitors. Mol Cancer Ther. 2017 Jul;16(7):1236-1245. doi: 10.1158/1535-7163.MCT-16-0819. Epub 2017 May 3. PubMed PMID: 28468779.

Diguet N, Trammell SAJ, Tannous C, Deloux R, Piquereau J, Mougenot N, Gouge A, Gressette M, Manoury B, Blanc J, Breton M, Decaux JF, Lavery GG, Baczkó I, Zoll J, Garnier A, Li Z, Brenner C, Mericskay M. Nicotinamide Riboside Preserves Cardiac Function in a Mouse Model of Dilated Cardiomyopathy. Circulation. 2018 May 22;137(21):2256-2273. doi: 10.1161/CIRCULATIONAHA.116.026099. Epub 2017 Dec 7. Erratum in: Circulation. 2018 May 22;137(21):e690. PubMed PMID: 29217642.

SPACER

Sara Hanson:

Hanson SJ, Stelzer CP, Welch DB, Logsdon JM Jr. Comparative transcriptome analysis of obligately asexual and cyclically sexual rotifers reveals genes with putative functions in sexual reproduction, dormancy, and asexual egg production. BMC Genomics. 2013 Jun 19;14:412. doi: 10.1186/1471-2164-14-412. PubMed PMID: 23782598; PubMed Central PMCID: PMC3701536.

Hanson SJ, Schurko AM, Hecox-Lea B, Welch DB, Stelzer CP, Logsdon JM Jr. Inventory and phylogenetic analysis of meiotic genes in monogonont rotifers. J Hered. 2013 May-Jun;104(3):357-70. doi: 10.1093/jhered/est011. Epub 2013 Mar 13. PubMed PMID: 23487324; PubMed Central PMCID: PMC3622358

SPACER

Shyam Ramachandran:

Bartlett JA, Hicks BJ, Schlomann JM, Ramachandran S, Nauseef WM, McCray PB Jr. PLUNC is a secreted product of neutrophil granules. J Leukoc Biol. 2008 May;83(5):1201-6. doi: 10.1189/jlb.0507302. Epub 2008 Feb 1. PubMed PMID: 18245229.

SPACER

Sophie Gaynor:

Monson ET, Pirooznia M, Parla J, Kramer M, Goes FS, Gaine ME, Gaynor SC, de Klerk K, Jancic D, Karchin R, McCombie WR, Zandi PP, Potash JB, Willour VL. Assessment of Whole-Exome Sequence Data in Attempted Suicide within a Bipolar Disorder Cohort. Mol Neuropsychiatry. 2017 Jul;3(1):1-11. doi: 10.1159/000454773. Epub 2017 Jan 18. PubMed PMID: 28879196; PubMed Central PMCID: PMC5582499.

Breen ME, Gaynor SC, Monson ET, de Klerk K, Parsons MG, Braun TA, DeLuca AP, Zandi PP, Potash JB, Willour VL. Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. PLoS One. 2016 Dec 28;11(12):e0169158. doi: 10.1371/journal.pone.0169158. eCollection 2016. PubMed PMID: 28030643; PubMed Central PMCID: PMC5193409.

Gaynor SC, Breen ME, Monson ET, de Klerk K, Parsons M, DeLuca AP, Scheetz TE, Zandi PP, Potash JB, Willour VL. A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1080-1087. doi: 10.1002/ajmg.b.32479. Epub 2016 Aug 2. PubMed PMID: 27480506; PubMed Central PMCID: PMC5814248.

Monson ET, de Klerk K, Gaynor SC, Wagner AH, Breen ME, Parsons M, Casavant TL, Zandi PP, Potash JB, Willour VL. Whole-gene sequencing investigation of SAT1 in attempted suicide. Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):888-95. doi: 10.1002/ajmg.b.32462. Epub 2016 May 27. PubMed PMID: 27229768; PubMed Central PMCID: PMC5814250.

SPACER

Stephanie Haase:

Moose DL, Haase SJ, Aldrich BT, Lear BC. The Narrow Abdomen Ion Channel Complex Is Highly Stable and Persists from Development into Adult Stages to Promote Behavioral Rhythmicity. Front Cell Neurosci. 2017 Jun 6;11:159. doi: 10.3389/fncel.2017.00159. eCollection 2017. PubMed PMID: 28634443; PubMed Central PMCID: PMC5459923.

SPACER

Tara Maga:

Schramm EC, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C, Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJ, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V. Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. Blood. 2015 Apr 9;125(15):2359-69. doi: 10.1182/blood-2014-10-609073. Epub 2015 Jan 21. PubMed PMID: 25608561; PubMed Central PMCID: PMC4392009.

Abrera-Abeleda MA, Nishimura C, Frees K, Jones M, Maga T, Katz LM, Zhang Y, Smith RJ. Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol. 2011 Aug;22(8):1551-9. doi: 10.1681/ASN.2010080795. Epub 2011 Jul 22. PubMed PMID: 21784901; PubMed Central PMCID: PMC3148710.

Maga TK, Meyer NC, Belsha C, Nishimura CJ, Zhang Y, Smith RJ. A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome. Nephrol Dial Transplant. 2011 Feb;26(2):739-41. doi: 10.1093/ndt/gfq658. Epub 2010 Oct 25. PubMed PMID: 20974643.

Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256. PubMed PMID: 20513133.

SPACER

Tryphena Cuffy:

Trantow CM, Cuffy TL, Fingert JH, Kuehn MH, Anderson MG. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):237-48. doi: 10.1167/iovs.10-5479. Print 2011 Jan. PubMed PMID: 20739468; PubMed Central PMCID: PMC3053276.

SPACER

Tyson Fuller:

Fuller TD, Westfall TA, Das T, Dawson DV, Slusarski DC. High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy. J Neurogenet. 2018 Mar – Jun;32(2):92-105. doi: 10.1080/01677063.2018.1445247. Epub 2018 May 2. PubMed PMID: 29718741

SPACER

Wei Li:

Van Otterloo E, Li W, Garnett A, Cattell M, Medeiros DM, Cornell RA. Novel Tfap2-mediated control of soxE expression facilitated the evolutionary emergence of the neural crest. Development. 2012 Feb;139(4):720-30. doi: 10.1242/dev.071308. Epub 2012 Jan 12. PubMed PMID: 22241841; PubMed Central PMCID: PMC3265060.

Van Otterloo E, Li W, Bonde G, Day KM, Hsu MY, Cornell RA. Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon. PLoS Genet. 2010 Sep 16;6(9):e1001122. doi: 10.1371/journal.pgen.1001122. PubMed PMID: 20862309; PubMed Central PMCID: PMC2940735.

O’Brien EK, d’Alençon C, Bonde G, Li W, Schoenebeck J, Allende ML, Gelb BD, Yelon D, Eisen JS, Cornell RA. Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Dev Biol. 2004 Jan 1;265(1):246-61. PubMed PMID: 14697367.

Li W, Cornell RA. Redundant activities of Tfap2a and Tfap2c are required for neural crest induction and development of other non-neural ectoderm derivatives in zebrafish embryos. Dev Biol. 2007 Apr 1;304(1):338-54. Epub 2006 Dec 23. PubMed PMID: 17258188; PubMed Central PMCID: PMC1904501.

Cornell RA, Yemm E, Bonde G, Li W, d’Alençon C, Wegman L, Eisen J, Zahs A. Touchtone promotes survival of embryonic melanophores in zebrafish. Mech Dev. 2004 Nov;121(11):1365-76. PubMed PMID: 15454266.

Nair S, Li W, Cornell R, Schilling TF. Requirements for Endothelin type-A receptors and Endothelin-1 signaling in the facial ectoderm for the patterning of skeletogenic neural crest cells in zebrafish. Development. 2007 Jan;134(2):335-45. Epub 2006 Dec 13. PubMed PMID: 17166927.

SPACER

Wes Goar:

Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Med Res Arch. 2017 Sep;5(9). doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18. PubMed PMID: 29457131; PubMed Central PMCID: PMC5814251.

Weihbrecht K, Goar WA, Carter CS, Sheffield VC, Seo S. Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. PLoS One. 2018 Feb 14;13(2):e0192755. doi: 10.1371/journal.pone.0192755. eCollection 2018. PubMed PMID: 29444170; PubMed Central PMCID: PMC5812623.

Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, Fingert JH. A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree. Eye (Lond). 2018 Apr;32(4):843-845. doi:10.1038/eye.2017.303. Epub 2018 Jan 19. PubMed PMID: 29350691; PubMed Central PMCID: PMC5898874.

SPACER

William Lanier:

Borchert GM, Gilmore BL, Spengler RM, Xing Y, Lanier W, Bhattacharya D, Davidson BL. Adenosine deamination in human transcripts generates novel microRNA binding sites. Hum Mol Genet. 2009 Dec 15;18(24):4801-7. doi: 10.1093/hmg/ddp443. Epub 2009 Sep 23. PubMed PMID: 19776031; PubMed Central PMCID: PMC2778373.

Borchert GM, Lanier W, Davidson BL. RNA polymerase III transcribes human microRNAs. Nat Struct Mol Biol. 2006 Dec;13(12):1097-101. Epub 2006 Nov 12. PubMed PMID: 17099701.

Lanier W, Moustafa A, Bhattacharya D, Comeron JM. EST analysis of Ostreococcus lucimarinus, the most compact eukaryotic genome, shows an excess of introns in highly expressed genes. PLoS One. 2008 May 14;3(5):e2171. doi: 10.1371/journal.pone.0002171. PubMed PMID: 18478122; PubMed Central PMCID: PMC2367439.

SPACER

Xitiz Chamling:

Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, Baye LM, Sheffield VC, Slusarski DC. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 2017 Jul 28;13(7):e1006936. doi:10.1371/journal.pgen.1006936. eCollection 2017 Jul. PubMed PMID: 28753627; PubMed Central PMCID: PMC5550010.

Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014 Feb 13;10(2):e1004083. doi: 10.1371/journal.pgen.1004083. eCollection 2014 Feb. PubMed PMID: 24550735; PubMed Central PMCID: PMC3923683.

Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PLoS One. 2013;8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 15. PubMed PMID: 23554981; PubMed Central PMCID: PMC3598656

SPACER

Xue Xiao:

Xiao X, Ghossein C, Tortajada A, Zhang Y, Meyer N, Jones M, Borsa NG, Nester CM, Thomas CP, de Córdoba SR, Smith RJ. Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene. Mol Immunol. 2016 Sep;77:89-96. doi: 10.1016/j.molimm.2016.07.007. Epub 2016 Aug 1. PubMed PMID: 27490940.

Xiao X, Pickering MC, Smith RJ. C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis. Semin Thromb Hemost. 2014 Jun;40(4):465-71. doi: 10.1055/s-0034-1376334. Epub 2014 May 5. Review. PubMed PMID: 24799308.

Eyler SJ, Meyer NC, Zhang Y, Xiao X, Nester CM, Smith RJ. A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome. Pediatr Nephrol. 2013 Nov;28(11):2221-5. doi: 10.1007/s00467-013-2560-2. Epub 2013 Jul 24. PubMed PMID: 23880784; PubMed Central PMCID: PMC4433496.

SPACER

Yan Zhang:

Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13. PubMed PMID: 23943788; PubMed Central PMCID: PMC3857943.

Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet. 2011 Apr 15;20(8):1467-77. doi: 10.1093/hmg/ddr025. Epub 2011 Jan 21. PubMed PMID: 21257638; PubMed Central PMCID: PMC3063982.

SPACER

Zack Kockler:

Elango R, Kockler Z, Liu L, Malkova A. Investigation of Break-Induced Replication in Yeast. Methods Enzymol. 2018;601:161-203. doi:10.1016/bs.mie.2017.12.010. Epub 2018 Feb 3. PubMed PMID: 29523232.

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