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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Berg JS, et al. Genet Med. 2007 Jul;9(7):427-41. doi: 10.1097/gim.0b013e3180986192. Genet Med. 2007. PMID: 17666889 Free article.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. Dumas LJ, et al. Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901949 Free PMC article.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
259 results