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A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR. Brophy PD, et al. Among authors: manak jr. Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24. Genetics. 2017. PMID: 28739660 Free PMC article.
Candidate modifier genes for immune function in 22q11.2 deletion syndrome.
Pinnaro CT, Henry T, Major HJ, Parida M, DesJardin LE, Manak JR, Darbro BW. Pinnaro CT, et al. Among authors: manak jr. Mol Genet Genomic Med. 2020 Jan;8(1):e1057. doi: 10.1002/mgg3.1057. Epub 2019 Dec 12. Mol Genet Genomic Med. 2020. PMID: 31830774 Free PMC article.
TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.
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. Seberg HE, et al. Among authors: manak jr. PLoS Genet. 2017 Mar 1;13(3):e1006636. doi: 10.1371/journal.pgen.1006636. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28249010 Free PMC article.
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR. Bassuk AG, et al. Among authors: manak jr. Hum Mol Genet. 2013 Mar 15;22(6):1097-111. doi: 10.1093/hmg/dds515. Epub 2012 Dec 7. Hum Mol Genet. 2013. PMID: 23223018 Free PMC article.
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
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. Paemka L, et al. Among authors: manak jr. PLoS Genet. 2015 Mar 12;11(3):e1005022. doi: 10.1371/journal.pgen.1005022. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763846 Free PMC article.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Among authors: manak jr. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
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