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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T. Balasubramanian M, et al. Among authors: wilson k. Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437032 Free PMC article.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: wilson k. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572 Free PMC article.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Among authors: wilson k. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WH. Yap ZY, et al. Among authors: wilson k. Genome Med. 2021 Apr 12;13(1):55. doi: 10.1186/s13073-021-00873-3. Genome Med. 2021. PMID: 33845882 Free PMC article.
Ethnic and racial differences in children and young people with respiratory and neurological post-acute sequelae of SARS-CoV-2: an electronic health record-based cohort study from the RECOVER Initiative.
Rao S, Azuero-Dajud R, Lorman V, Landeo-Gutierrez J, Rhee KE, Ryu J, Kim C, Carmilani M, Gross RS, Mohandas S, Suresh S, Bailey LC, Castro V, Senathirajah Y, Esquenazi-Karonika S, Murphy S, Caddle S, Kleinman LC, Castro-Baucom L, Oliveira CR, Klein JD, Chung A, Cowell LG, Madlock-Brown C, Geary CR, Sills MR, Thorpe LE, Szmuszkovicz J, Tantisira KG; RECOVER EHR and; RECOVER Pediatric Cohorts. Rao S, et al. EClinicalMedicine. 2025 Jan 2;80:103042. doi: 10.1016/j.eclinm.2024.103042. eCollection 2025 Feb. EClinicalMedicine. 2025. PMID: 39850015 Free PMC article.
A Tribute to Richard J. Saykally.
Cohen RC, Wilson KR, Havenith M, Ziurys LM. Cohen RC, et al. Among authors: wilson kr. J Phys Chem A. 2025 Jan 23;129(3):643-644. doi: 10.1021/acs.jpca.4c08425. J Phys Chem A. 2025. PMID: 39844682 No abstract available.
5,905 results