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5. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. Hiraide T; Tanaka T; Masunaga Y; Ohkubo Y; Nakashima M; Fukuda T; Ogata T; Saitsu H J Hum Genet; 2021 Dec; 66(12):1185-1187. PubMed ID: 34112922 [TBL] [Abstract][Full Text] [Related]
6. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review. Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686 [TBL] [Abstract][Full Text] [Related]
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8. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Schoch K; Meng L; Szelinger S; Bearden DR; Stray-Pedersen A; Busk OL; Stong N; Liston E; Cohn RD; Scaglia F; Rosenfeld JA; Tarpinian J; Skraban CM; Deardorff MA; Friedman JN; Akdemir ZC; Walley N; Mikati MA; Kranz PG; Jasien J; McConkie-Rosell A; McDonald M; Wechsler SB; Freemark M; Kansagra S; Freedman S; Bali D; Millan F; Bale S; Nelson SF; Lee H; Dorrani N; ; ; Goldstein DB; Xiao R; Yang Y; Posey JE; Martinez-Agosto JA; Lupski JR; Wangler MF; Shashi V Am J Hum Genet; 2017 Feb; 100(2):343-351. PubMed ID: 28132692 [TBL] [Abstract][Full Text] [Related]
9. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Liang L; Li X; Moutton S; Schrier Vergano SA; Cogné B; Saint-Martin A; Hurst ACE; Hu Y; Bodamer O; Thevenon J; Hung CY; Isidor B; Gerard B; Rega A; Nambot S; Lehalle D; Duffourd Y; Thauvin-Robinet C; Faivre L; Bézieau S; Dure LS; Helbling DC; Bick D; Xu C; Chen Q; Mancini GMS; Vitobello A; Wang QK Hum Mol Genet; 2019 Sep; 28(17):2937-2951. PubMed ID: 31152168 [TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Venkateswaran S; Myers KA; Smith AC; Beaulieu CL; Schwartzentruber JA; ; Majewski J; Bulman D; Boycott KM; Dyment DA Epilepsia; 2014 Jul; 55(7):e75-9. PubMed ID: 24903190 [TBL] [Abstract][Full Text] [Related]
11. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum. Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203 [TBL] [Abstract][Full Text] [Related]
12. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. Trinh J; Hüning I; Yüksel Z; Baalmann N; Imhoff S; Klein C; Rolfs A; Gillessen-Kaesbach G; Lohmann K J Hum Genet; 2018 Sep; 63(9):997-1001. PubMed ID: 29899504 [TBL] [Abstract][Full Text] [Related]
13. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055 [TBL] [Abstract][Full Text] [Related]
14. A novel de novo frameshift variant in SETD1B causes epilepsy. Den K; Kato M; Yamaguchi T; Miyatake S; Takata A; Mizuguchi T; Miyake N; Mitsuhashi S; Matsumoto N J Hum Genet; 2019 Aug; 64(8):821-827. PubMed ID: 31110234 [TBL] [Abstract][Full Text] [Related]
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17. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Uguen K; Krysiak K; Audebert-Bellanger S; Redon S; Benech C; Viora-Dupont E; Tran Mau-Them F; Rondeau S; Elsharkawi I; Granadillo JL; Neidich J; Soares CA; Tkachenko N; M Amudhavalli S; Engleman K; Boland A; Deleuze JF; Bezieau S; Odent S; Toutain A; Bonneau D; Gilbert-Dussardier B; Faivre L; Rio M; Le Marechal C; Ferec C; Repnikova E; Cao Y Clin Genet; 2021 Oct; 100(4):386-395. PubMed ID: 34164801 [TBL] [Abstract][Full Text] [Related]
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20. Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. Banerjee S; Chen H; Huang H; Wu J; Yang Z; Deng W; Chen D; Deng J; Su Y; Li Y; Wu C; Wang Y; Zeng H; Wang Y; Li X Oncotarget; 2016 Nov; 7(48):78363-78371. PubMed ID: 27852057 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]