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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: mirzaa gm. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Among authors: mirzaa gm. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
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.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: mirzaa gm. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
75 results