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Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: motelow je. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Among authors: motelow je. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Rogerson D, Alkelai A, Giordano J, Pantrangi M, Hsiao MC, Nhan-Chang CL, Motelow JE, Aggarwal V, Goldstein D, Wapner R, Shawber CJ. Rogerson D, et al. Among authors: motelow je. Prenat Diagn. 2023 Jun;43(6):703-716. doi: 10.1002/pd.6345. Epub 2023 Apr 3. Prenat Diagn. 2023. PMID: 36959127 Free PMC article.
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Alkelai A, Greenbaum L, Shohat S, Povysil G, Malakar A, Ren Z, Motelow JE, Schechter T, Draiman B, Chitrit-Raveh E, Hughes D, Jobanputra V, Shifman S, Goldstein DB, Kohn Y. Alkelai A, et al. Among authors: motelow je. Schizophr Res. 2023 Feb;252:138-145. doi: 10.1016/j.schres.2022.12.033. Epub 2023 Jan 14. Schizophr Res. 2023. PMID: 36645932
Risk Variants in the Exomes of Children With Critical Illness.
Motelow JE, Lippa NC, Hostyk J, Feldman E, Nelligan M, Ren Z, Alkelai A, Milner JD, Gharavi AG, Tang Y, Goldstein DB, Kernie SG. Motelow JE, et al. JAMA Netw Open. 2022 Oct 3;5(10):e2239122. doi: 10.1001/jamanetworkopen.2022.39122. JAMA Netw Open. 2022. PMID: 36306130 Free PMC article.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS. Green TE, et al. Among authors: motelow je. Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366. Hum Mol Genet. 2022. PMID: 35137044 Free PMC article.
Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Koko M, et al. Among authors: motelow je. Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15. Epilepsia. 2022. PMID: 35032048 Free PMC article.
35 results