219 related articles for article (PubMed ID: 31327510)
1. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Reis LM; Sorokina EA; Thompson S; Muheisen S; Velinov M; Zamora C; Aylsworth AS; Semina EV
Am J Hum Genet; 2019 Aug; 105(2):425-433. PubMed ID: 31327510
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
[TBL] [Abstract][Full Text] [Related]
4. WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Sorokina EA; Reis LM; Thompson S; Agre K; Babovic-Vuksanovic D; Ellingson MS; Hasadsri L; van Bever Y; Semina EV
Hum Genet; 2021 Dec; 140(12):1775-1789. PubMed ID: 34642815
[TBL] [Abstract][Full Text] [Related]
5. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y; Yoshihashi H; Uehara T; Miyama S; Kosaki K; Takenouchi T
Am J Med Genet A; 2021 Mar; 185(3):884-888. PubMed ID: 33369122
[TBL] [Abstract][Full Text] [Related]
6. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
7. Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Deml B; Kariminejad A; Borujerdi RH; Muheisen S; Reis LM; Semina EV
PLoS Genet; 2015; 11(2):e1005002. PubMed ID: 25719200
[TBL] [Abstract][Full Text] [Related]
8. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
9. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome.
Samejima M; Nakashima M; Shibasaki J; Saitsu H; Kato M
Brain Dev; 2024 Mar; 46(3):154-159. PubMed ID: 38044197
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. First Report of Mexican Patients with
Corona-Rivera JR; Zenteno JC; López-Pérez LG; Yokoyama-Rebollar E; Villarroel CE; Barragán-Arévalo T; Montes-Almanza LÁ; Zepeda-Romero LC; Morales-Domínguez GE; Peña-Padilla C; Bobadilla-Morales L; Corona-Rivera A
Mol Syndromol; 2023 Apr; 14(2):143-151. PubMed ID: 37064331
[TBL] [Abstract][Full Text] [Related]
14. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ; Ansari M; Abou Jamra R; Clarke A; El Chehadeh S; FitzPatrick DR; Greenslade M; Henderson A; Hurst J; Keller K; Kuentz P; Prescott T; Roessler F; Selmer KK; Schneider MC; Stewart F; Tatton-Brown K; Thevenon J; Vigeland MD; Vogt J; Willems M; Zonana J; Study DD; Smithson SF
Eur J Hum Genet; 2017 May; 25(5):552-559. PubMed ID: 28327570
[TBL] [Abstract][Full Text] [Related]
17. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M
Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479
[TBL] [Abstract][Full Text] [Related]
20. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z; Shah SF; Qaisar AA; Falconnet E; Zoete V; Ranza E; Makrythanasis P; Santoni FA; Ahmed J; Katsanis N; Walsh C; Davis EE; Antonarakis SE
Am J Hum Genet; 2019 Jun; 104(6):1073-1087. PubMed ID: 31079899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
