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8. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. Schneeberger PE; Nampoothiri S; Holling T; Yesodharan D; Alawi M; Knisely AS; Müller T; Plecko B; Janecke AR; Kutsche K Brain; 2021 Nov; 144(10):3036-3049. PubMed ID: 34037727 [TBL] [Abstract][Full Text] [Related]
9. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164 [TBL] [Abstract][Full Text] [Related]
10. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099 [TBL] [Abstract][Full Text] [Related]
11. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009 [TBL] [Abstract][Full Text] [Related]
12. Bi-allelic mutations in Milev MP; Graziano C; Karall D; Kuper WFE; Al-Deri N; Cordelli DM; Haack TB; Danhauser K; Iuso A; Palombo F; Pippucci T; Prokisch H; Saint-Dic D; Seri M; Stanga D; Cenacchi G; van Gassen KLI; Zschocke J; Fauth C; Mayr JA; Sacher M; van Hasselt PM J Med Genet; 2018 Nov; 55(11):753-764. PubMed ID: 30120216 [TBL] [Abstract][Full Text] [Related]
13. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. Fichera M; Failla P; Saccuzzo L; Miceli M; Salvo E; Castiglia L; Galesi O; Grillo L; Calì F; Greco D; Amato C; Romano C; Elia M Hum Genet; 2019 Feb; 138(2):187-198. PubMed ID: 30656450 [TBL] [Abstract][Full Text] [Related]
14. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Bögershausen N; Shahrzad N; Chong JX; von Kleist-Retzow JC; Stanga D; Li Y; Bernier FP; Loucks CM; Wirth R; Puffenberger EG; Hegele RA; Schreml J; Lapointe G; Keupp K; Brett CL; Anderson R; Hahn A; Innes AM; Suchowersky O; Mets MB; Nürnberg G; McLeod DR; Thiele H; Waggoner D; Altmüller J; Boycott KM; Schoser B; Nürnberg P; Ober C; Heller R; Parboosingh JS; Wollnik B; Sacher M; Lamont RE Am J Hum Genet; 2013 Jul; 93(1):181-90. PubMed ID: 23830518 [TBL] [Abstract][Full Text] [Related]
15. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Davids M; Menezes M; Guo Y; McLean SD; Hakonarson H; Collins F; Worgan L; Billington CJ; Maric I; Littlejohn RO; Onyekweli T; Members Of The Udn ; Adams DR; Tifft CJ; Gahl WA; Wolfe LA; Christodoulou J; Malicdan MCV Mol Genet Metab; 2020 May; 130(1):49-57. PubMed ID: 32165008 [TBL] [Abstract][Full Text] [Related]
16. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886 [TBL] [Abstract][Full Text] [Related]
17. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Yatsuka Y; Kishita Y; Formosa LE; Shimura M; Nozaki F; Fujii T; Nitta KR; Ohtake A; Murayama K; Ryan MT; Okazaki Y Clin Genet; 2020 Aug; 98(2):155-165. PubMed ID: 32385911 [TBL] [Abstract][Full Text] [Related]
18. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631 [TBL] [Abstract][Full Text] [Related]
19. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. Boschann F; Fischer-Zirnsak B; Wienker TF; Holtgrewe M; Seelow D; Eichhorn B; Döhnert S; Fahsold R; Horn D; Graul-Neumann LM Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691 [TBL] [Abstract][Full Text] [Related]
20. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Umair M; Ballow M; Asiri A; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Aloraini T; Abdelhakim M; Althagafi AT; Kafkas S; Alsubaie L; Alrifai MT; Hoehndorf R; Alfares A; Alfadhel M Clin Genet; 2020 Dec; 98(6):555-561. PubMed ID: 32869858 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]