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Page 1
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: brown k. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study; Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Cyrus SS, et al. Among authors: brown k. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. Am J Med Genet C Semin Med Genet. 2019. PMID: 31736240
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. Begemann A, et al. Among authors: brown ke. Genet Med. 2021 Mar;23(3):543-554. doi: 10.1038/s41436-020-01011-x. Epub 2020 Nov 5. Genet Med. 2021. PMID: 33149277 Free PMC article.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Flex E, et al. Among authors: brown k. Am J Hum Genet. 2019 Sep 5;105(3):493-508. doi: 10.1016/j.ajhg.2019.07.007. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447100 Free PMC article.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: brown k. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Crenshaw MM, Meyers ML, Brown K, Slegesky V, Duis J, Elias ER, Saenz M, Shi W, Filmus J, Meeks NJL. Crenshaw MM, et al. Among authors: brown k. Am J Med Genet A. 2023 Oct;191(10):2571-2577. doi: 10.1002/ajmg.a.63337. Epub 2023 Jun 23. Am J Med Genet A. 2023. PMID: 37353964
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Wolking S, et al. Among authors: brown k. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737342 Free PMC article.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B. Jacobs EZ, et al. Among authors: brown k. Clin Genet. 2021 Feb;99(2):259-268. doi: 10.1111/cge.13874. Epub 2020 Nov 23. Clin Genet. 2021. PMID: 33131045
8,692 results