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3. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Paul MS; Duncan AR; Genetti CA; Pan H; Jackson A; Grant PE; Shi J; Pinelli M; Brunetti-Pierri N; Garza-Flores A; Shahani D; Saneto RP; Zampino G; Leoni C; Agolini E; Novelli A; Blümlein U; Haack TB; Heinritz W; Matzker E; Alhaddad B; Abou Jamra R; Bartolomaeus T; AlHamdan S; Carapito R; Isidor B; Bahram S; Ritter A; Izumi K; Shakked BP; Barel O; Ben Zeev B; Begtrup A; Carere DA; Mullegama SV; Palculict TB; Calame DG; Schwan K; Aycinena ARP; Traberg R; ; Douzgou S; Pirt H; Ismayilova N; Banka S; Chao HT; Agrawal PB Am J Hum Genet; 2023 Jan; 110(1):120-145. PubMed ID: 36528028 [TBL] [Abstract][Full Text] [Related]
4. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Chung HL; Mao X; Wang H; Park YJ; Marcogliese PC; Rosenfeld JA; Burrage LC; Liu P; Murdock DR; Yamamoto S; Wangler MF; ; Chao HT; Long H; Feng L; Bacino CA; Bellen HJ; Xiao B Am J Hum Genet; 2020 May; 106(5):717-725. PubMed ID: 32330417 [TBL] [Abstract][Full Text] [Related]
6. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248 [TBL] [Abstract][Full Text] [Related]
7. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Kanca O; Andrews JC; Lee PT; Patel C; Braddock SR; Slavotinek AM; Cohen JS; Gubbels CS; Aldinger KA; Williams J; Indaram M; Fatemi A; Yu TW; Agrawal PB; Vezina G; Simons C; Crawford J; Lau CC; ; Chung WK; Markello TC; Dobyns WB; Adams DR; Gahl WA; Wangler MF; Yamamoto S; Bellen HJ; Malicdan MCV Am J Hum Genet; 2019 Aug; 105(2):413-424. PubMed ID: 31327508 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Ma M; Ganapathi M; Zheng Y; Tan KL; Kanca O; Bove KE; Quintanilla N; Sag SO; Temel SG; LeDuc CA; McPartland AJ; Pereira EM; Shen Y; Hagen J; Thomas CP; Nguyen Galván NT; Pan X; Lu S; Rosenfeld JA; Calame DG; Wangler MF; Lupski JR; Pehlivan D; Hertel PM; Chung WK; Bellen HJ Genet Med; 2024 Jul; 26(7):101125. PubMed ID: 38522068 [TBL] [Abstract][Full Text] [Related]
10. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Huang Y; Jay KL; Huang AY; Wan J; Jangam SV; Chorin O; Rothschild A; Barel O; Mariani M; Iascone M; Xue H; ; Huang J; Mignot C; Keren B; Saillour V; Mah-Som AY; Sacharow S; Rajabi F; Costin C; Yamamoto S; Kanca O; Bellen HJ; Rosenfeld JA; Palmer CGS; Nelson SF; Wangler MF; Martinez-Agosto JA Genet Med; 2024 Jul; ():101218. PubMed ID: 39036895 [TBL] [Abstract][Full Text] [Related]
11. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Snijders Blok L; Verseput J; Rots D; Venselaar H; Innes AM; Stumpel C; Õunap K; Reinson K; Seaby EG; McKee S; Burton B; Kim K; van Hagen JM; Waisfisz Q; Joset P; Steindl K; Rauch A; Li D; Zackai EH; Sheppard SE; Keena B; Hakonarson H; Roos A; Kohlschmidt N; Cereda A; Iascone M; Rebessi E; Kernohan KD; Campeau PM; Millan F; Taylor JA; Lochmüller H; Higgs MR; Goula A; Bernhard B; Velasco DJ; Schmanski AA; Stark Z; Gallacher L; Pais L; Marcogliese PC; Yamamoto S; Raun N; Jakub TE; Kramer JM; den Hoed J; Fisher SE; Brunner HG; Kleefstra T HGG Adv; 2023 Jan; 4(1):100157. PubMed ID: 36408368 [TBL] [Abstract][Full Text] [Related]
13. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Chung HL; Rump P; Lu D; Glassford MR; Mok JW; Fatih J; Basal A; Marcogliese PC; Kanca O; Rapp M; Fock JM; Kamsteeg EJ; Lupski JR; Larson A; Haninbal MC; Bellen H; Harel T Hum Mol Genet; 2022 Sep; 31(19):3231-3244. PubMed ID: 35234901 [TBL] [Abstract][Full Text] [Related]
14. Allelic strengths of encephalopathy-associated Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ Elife; 2023 Dec; 12():. PubMed ID: 38079206 [TBL] [Abstract][Full Text] [Related]
15. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Ansar M; Chung HL; Al-Otaibi A; Elagabani MN; Ravenscroft TA; Paracha SA; Scholz R; Abdel Magid T; Sarwar MT; Shah SF; Qaisar AA; Makrythanasis P; Marcogliese PC; Kamsteeg EJ; Falconnet E; Ranza E; Santoni FA; Aldhalaan H; Al-Asmari A; Faqeih EA; Ahmed J; Kornau HC; Bellen HJ; Antonarakis SE Am J Hum Genet; 2019 Nov; 105(5):907-920. PubMed ID: 31607425 [TBL] [Abstract][Full Text] [Related]
16. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Huang Y; Lemire G; Briere LC; Liu F; Wessels MW; Wang X; Osmond M; Kanca O; Lu S; High FA; Walker MA; Rodan LH; ; ; Kernohan KD; Sweetser DA; Boycott KM; Bellen HJ Am J Hum Genet; 2022 Oct; 109(10):1923-1931. PubMed ID: 36067766 [TBL] [Abstract][Full Text] [Related]
17. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Goodman LD; Cope H; Nil Z; Ravenscroft TA; Charng WL; Lu S; Tien AC; Pfundt R; Koolen DA; Haaxma CA; Veenstra-Knol HE; Wassink-Ruiter JSK; Wevers MR; Jones M; Walsh LE; Klee VH; Theunis M; Legius E; Steel D; Barwick KES; Kurian MA; Mohammad SS; Dale RC; Terhal PA; van Binsbergen E; Kirmse B; Robinette B; Cogné B; Isidor B; Grebe TA; Kulch P; Hainline BE; Sapp K; Morava E; Klee EW; Macke EL; Trapane P; Spencer C; Si Y; Begtrup A; Moulton MJ; Dutta D; Kanca O; ; Wangler MF; Yamamoto S; Bellen HJ; Tan QK Am J Hum Genet; 2021 Sep; 108(9):1669-1691. PubMed ID: 34314705 [TBL] [Abstract][Full Text] [Related]
18. The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival. Ma M; Zhang X; Zheng Y; Lu S; Pan X; Mao X; Pan H; Chung HL; Wang H; Guo H; Bellen HJ Hum Mol Genet; 2023 Mar; 32(6):984-997. PubMed ID: 36255738 [TBL] [Abstract][Full Text] [Related]
19. Hubert L; Cannata Serio M; Villoing-Gaudé L; Boddaert N; Kaminska A; Rio M; Lyonnet S; Munnich A; Poirier K; Simons M; Besmond C J Med Genet; 2020 Feb; 57(2):138-144. PubMed ID: 31439720 [TBL] [Abstract][Full Text] [Related]
20. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Pan X; Tao AM; Lu S; Ma M; Hannan SB; Slaugh R; Drewes Williams S; O'Grady L; Kanca O; Person R; Carter MT; Platzer K; Schnabel F; Abou Jamra R; Roberts AE; Newburger JW; Revah-Politi A; Granadillo JL; Stegmann APA; Sinnema M; Accogli A; Salpietro V; Capra V; Ghaloul-Gonzalez L; Brueckner M; Simon MEH; Sweetser DA; Glinton KE; Kirk SE; ; Wangler MF; Yamamoto S; Chung WK; Bellen HJ Am J Hum Genet; 2024 Apr; 111(4):742-760. PubMed ID: 38479391 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]