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Page 1
Rare germline structural variants increase risk for pediatric solid tumors.
Gillani R, Collins RL, Crowdis J, Garza A, Jones JK, Walker M, Sanchis-Juan A, Whelan C, Pierce-Hoffman E, Talkowski M, Brand H, Haigis K, LoPiccolo J, AlDubayan SH, Gusev A, Crompton BD, Janeway KA, Van Allen EM. Gillani R, et al. bioRxiv [Preprint]. 2024 Apr 29:2024.04.27.591484. doi: 10.1101/2024.04.27.591484. bioRxiv. 2024. PMID: 38746320 Free PMC article. Preprint.
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm H, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: talkowski me. Genome Res. 2024 May 15:gr.278378.123. doi: 10.1101/gr.278378.123. Online ahead of print. Genome Res. 2024. PMID: 38749656
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S. Harripaul R, et al. Among authors: talkowski me. Sci Rep. 2024 May 2;14(1):10103. doi: 10.1038/s41598-024-60576-8. Sci Rep. 2024. PMID: 38698036 Free PMC article. No abstract available.
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Chao KR, Wang L, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M; gnomAD Consortium; Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. Chao KR, et al. Among authors: talkowski me. bioRxiv [Preprint]. 2024 May 3:2024.04.11.588920. doi: 10.1101/2024.04.11.588920. bioRxiv. 2024. PMID: 38645134 Free PMC article. Preprint.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Among authors: talkowski me. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304594. doi: 10.1101/2024.03.22.24304594. medRxiv. 2024. PMID: 38585811 Free PMC article. Preprint.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: talkowski me. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: talkowski me. Am J Hum Genet. 2024 Mar 7;111(3):619. doi: 10.1016/j.ajhg.2024.02.006. Am J Hum Genet. 2024. PMID: 38458168 Free article. No abstract available.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: talkowski me. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Utility of long-read sequencing for All of Us.
Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, Handsaker RE, Hall S, Pionzio A, Schatz MC, Talkowski ME, Eichler EE, Levy SE, Sedlazeck FJ. Mahmoud M, et al. Among authors: talkowski me. Nat Commun. 2024 Jan 29;15(1):837. doi: 10.1038/s41467-024-44804-3. Nat Commun. 2024. PMID: 38281971 Free PMC article.
163 results