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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M; University of Washington Center for Mendelian Genomics; Chong JX, Bamshad MJ, Innes AM, Pierson TM, Mackay JP, Bielas SL, Martin DM. Werren EA, et al. Among authors: wheeler m. HGG Adv. 2023 Apr 20;4(3):100198. doi: 10.1016/j.xhgg.2023.100198. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37181331 Free PMC article.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Werren EA, et al. Among authors: wheeler mm. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. Cell Death Dis. 2024. PMID: 38816421 Free PMC article.
Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium.
Jordan E, Ni H, Parker P, Kinnamon DD, Owens A, Lowes B, Shenoy C, Martin CM, Judge DP, Fishbein DP, Stoller D, Minami E, Kransdorf E, Smart F, Haas GJ, Huggins GS, Ewald GA, Diamond J, Wilcox JE, Jimenez J, Wang J, Tallaj J, Drazner MH, Hofmeyer M, Wheeler MT, Pinzon OW, Shah P, Gottlieb SS, Katz S, Shore S, Tang WHW, Hershberger RE; DCM Precision Medicine study of the DCM Consortium. Jordan E, et al. Among authors: wheeler mt. medRxiv [Preprint]. 2024 Nov 26:2024.11.22.24317816. doi: 10.1101/2024.11.22.24317816. medRxiv. 2024. PMID: 39649582 Free PMC article. Preprint.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Meisner JK, Renberg A, Smith ED, Tsan YC, Elder B, Bullard A, Merritt O, Zheng SL, Lakdawala N, Owens A, Ryan TD, Miller EM, Rossano J, Lin KY, Claggett B, Ashley E, Michels M, Lampert R, Stendahl JC, Abrahams D, Semsarian C, Parikh VN, Wheeler M, Ingles J, Day SM, Saberi S, Russell MW, Previs M, Ho C, Ware JS, Helms AS. Meisner JK, et al. Among authors: wheeler m. Circulation. 2024 Dec 5. doi: 10.1161/CIRCULATIONAHA.124.069398. Online ahead of print. Circulation. 2024. PMID: 39633578
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Among authors: wheeler mt. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
1,896 results