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7. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Harel T; Yoon WH; Garone C; Gu S; Coban-Akdemir Z; Eldomery MK; Posey JE; Jhangiani SN; Rosenfeld JA; Cho MT; Fox S; Withers M; Brooks SM; Chiang T; Duraine L; Erdin S; Yuan B; Shao Y; Moussallem E; Lamperti C; Donati MA; Smith JD; McLaughlin HM; Eng CM; Walkiewicz M; Xia F; Pippucci T; Magini P; Seri M; Zeviani M; Hirano M; Hunter JV; Srour M; Zanigni S; Lewis RA; Muzny DM; Lotze TE; Boerwinkle E; ; ; Gibbs RA; Hickey SE; Graham BH; Yang Y; Buhas D; Martin DM; Potocki L; Graziano C; Bellen HJ; Lupski JR Am J Hum Genet; 2016 Oct; 99(4):831-845. PubMed ID: 27640307 [TBL] [Abstract][Full Text] [Related]
10. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308 [TBL] [Abstract][Full Text] [Related]
11. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Horn D; Siebert E; Seidel U; Rost I; Mayer K; Abou Jamra R; Mitter D; Kornak U Am J Med Genet A; 2017 Sep; 173(9):2534-2538. PubMed ID: 28742248 [TBL] [Abstract][Full Text] [Related]
12. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333 [TBL] [Abstract][Full Text] [Related]
13. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. Mor-Shaked H; Salah S; Yanovsky-Dagan S; Meiner V; Atawneh OM; Abu-Libdeh B; Elpeleg O; Harel T Clin Genet; 2021 Apr; 99(4):577-582. PubMed ID: 33410501 [TBL] [Abstract][Full Text] [Related]
14. Heterozygous mutations affecting the protein kinase domain of Hamilton MJ; Caswell RC; Canham N; Cole T; Firth HV; Foulds N; Heimdal K; Hobson E; Houge G; Joss S; Kumar D; Lampe AK; Maystadt I; McKay V; Metcalfe K; Newbury-Ecob R; Park SM; Robert L; Rustad CF; Wakeling E; Wilkie AOM; Study TDDD; Twigg SRF; Suri M J Med Genet; 2018 Jan; 55(1):28-38. PubMed ID: 29021403 [TBL] [Abstract][Full Text] [Related]
15. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. van den Akker WMR; Brummelman I; Martis LM; Timmermans RN; Pfundt R; Kleefstra T; Willemsen MH; Gerkes EH; Herkert JC; van Essen AJ; Rump P; Vansenne F; Terhal PA; van Haelst MM; Cristian I; Turner CE; Cho MT; Begtrup A; Willaert R; Fassi E; van Gassen KLI; Stegmann APA; de Vries BBA; Schuurs-Hoeijmakers JHM Clin Genet; 2018 May; 93(5):1000-1007. PubMed ID: 29393965 [TBL] [Abstract][Full Text] [Related]
16. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. Cai S; Li J; Wu Y; Jiang Y J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252 [TBL] [Abstract][Full Text] [Related]
17. A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. Zhao X; Wang Y; Cai A; Mei S; Liu N; Kong X Eur J Med Genet; 2021 Jan; 64(1):104101. PubMed ID: 33189936 [TBL] [Abstract][Full Text] [Related]
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19. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. Koehler K; Schuelke M; Hell AK; Schittkowski M; Huebner A; Brockmann K Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161 [TBL] [Abstract][Full Text] [Related]
20. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities. Ben-Mahmoud A; Al-Shamsi AM; Ali BR; Al-Gazali L J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]