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132 results

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Page 1
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: skinner sa. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Among authors: skinner sa. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.
MEF2C-Related Disorder.
Cooley Coleman J, Skinner SA. Cooley Coleman J, et al. Among authors: skinner sa. 2024 Dec 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Dec 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39666846 Free Books & Documents. Review.
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. Ananth A, et al. Among authors: skinner sa. Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30. Pediatr Neurol. 2024. PMID: 39476560
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Neul JL, Benke TA, Marsh ED, Suter B, Fu C, Ryther RC, Skinner SA, Lieberman DN, Feyma T, Beisang A, Heydemann P, Peters SU, Ananth A, Percy AK. Neul JL, et al. Among authors: skinner sa. Genes (Basel). 2024 Aug 22;15(8):1107. doi: 10.3390/genes15081107. Genes (Basel). 2024. PMID: 39202466 Free PMC article.
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Pérez-Cano L, Boccuto L, Sirci F, Hidalgo JM, Valentini S, Bosio M, Liogier D'Ardhuy X, Skinner C, Cascio L, Srikanth S, Jones K, Buchanan CB, Skinner SA, Gomez-Mancilla B, Hyvelin JM, Guney E, Durham L. Pérez-Cano L, et al. Among authors: skinner sa. Biomedicines. 2024 Apr 30;12(5):991. doi: 10.3390/biomedicines12050991. Biomedicines. 2024. PMID: 38790952 Free PMC article.
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Abbott M, et al. Among authors: skinner sa. Am J Med Genet A. 2024 Oct;194(10):e63725. doi: 10.1002/ajmg.a.63725. Epub 2024 May 22. Am J Med Genet A. 2024. PMID: 38775384
Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolism.
Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Coleman JAC, Skinner SA, Cowan CW, O'Sullivan TE. Li JH, et al. Among authors: skinner sa. Nat Immunol. 2024 May;25(5):928. doi: 10.1038/s41590-024-01841-w. Nat Immunol. 2024. PMID: 38641722 No abstract available.
132 results