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The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I, Leitão E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel AL, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde MT, Keren B, Afenjar A, Tabet AC, Levy J, Maruani A, Aledo-Serrano Á, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. Parenti I, et al. Among authors: bellus g. Front Cell Dev Biol. 2022 Dec 8;10:1019715. doi: 10.3389/fcell.2022.1019715. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568968 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: bellus g. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
Vermehren-Schmaedick A, Huang JY, Levinson M, Pomaville MB, Reed S, Bellus GA, Gilbert F, Keren B, Heron D, Haye D, Janello C, Makowski C, Danhauser K, Fedorov LM, Haack TB, Wright KM, Cohen MS. Vermehren-Schmaedick A, et al. Among authors: bellus ga. Cells. 2021 May 22;10(6):1289. doi: 10.3390/cells10061289. Cells. 2021. PMID: 34067418 Free PMC article.
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK. Garrity M, et al. Among authors: bellus g. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006092. doi: 10.1101/mcs.a006092. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34021018 Free PMC article.
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: bellus ga. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE. Bober MB, et al. Among authors: bellus ga. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301650 Free Books & Documents. Review.
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Yan K, et al. Among authors: bellus ga. Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan. Sci Adv. 2020. PMID: 32010779 Free PMC article.
46 results