166 related articles for article (PubMed ID: 36067766)
1. 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]
2. MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.
Corona-Rivera JR; Zenteno JC; Ordoñez-Labastida V; Cruz-Cruz JP; Cortés-Pastrana RC; Peña-Padilla C; Bobadilla-Morales L; Corona-Rivera A; Martínez-Herrera A
Eur J Med Genet; 2023 Oct; 66(10):104826. PubMed ID: 37657631
[TBL] [Abstract][Full Text] [Related]
3. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Lu S; Hernan R; Marcogliese PC; Huang Y; Gertler TS; Akcaboy M; Liu S; Chung HL; Pan X; Sun X; Oguz MM; Oztoprak U; de Baaij JHF; Ivanisevic J; McGinnis E; Guillen Sacoto MJ; Chung WK; Bellen HJ
Am J Hum Genet; 2022 Apr; 109(4):571-586. PubMed ID: 35240055
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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; ; ; Wangler MF; Yamamoto S; Kernohan KD; Sweetser DA; Boycott KM; Bellen HJ
Am J Hum Genet; 2022 Nov; 109(11):2092. PubMed ID: 36332614
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S; Ma M; Mao X; Bacino CA; Jankovic J; Sutton VR; Bartley JA; Wang X; Rosenfeld JA; Beleza-Meireles A; Chauhan J; Pan X; Li M; Liu P; Prescott K; Amin S; Davies G; Wangler MF; Dai Y; Bellen HJ
Am J Hum Genet; 2022 Oct; 109(10):1932-1943. PubMed ID: 36206744
[TBL] [Abstract][Full Text] [Related]
9. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
[TBL] [Abstract][Full Text] [Related]
10. A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
Jahanpanah M; Mokhtari D; Mokaber H; Arish S; Ahmadabadi F; Davarnia B
Mol Genet Genomic Med; 2024 Apr; 12(4):e2424. PubMed ID: 38546112
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Borja N; Borjas-Mendoza P; Bivona S; Peart L; Gonzalez J; Johnson BK; Guo S; Yusupov R; ; Bademci G; Tekin M
Am J Med Genet A; 2023 Jul; 191(7):1911-1916. PubMed ID: 36987712
[TBL] [Abstract][Full Text] [Related]
13. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann JH; Du C; Morlot S; Schmidt G; Auber B; Kaune B; Göhring G; Ripperger T; Schlegelberger B; Hofmann W; Smol T; Ait-Yahya E; Raimbault A; Lambilliotte A; Petit F; Steinemann D
Clin Genet; 2020 Oct; 98(4):374-378. PubMed ID: 32627184
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17.
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]
18. 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]
19. A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.
Yang F; Ding Y; Wang Y; Zhang Q; Li H; Yu T; Chang G; Wang X
Medicine (Baltimore); 2024 Jan; 103(2):e35908. PubMed ID: 38215144
[TBL] [Abstract][Full Text] [Related]
20. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Nabais Sá MJ; El Tekle G; de Brouwer APM; Sawyer SL; Del Gaudio D; Parker MJ; Kanani F; van den Boogaard MH; van Gassen K; Van Allen MI; Wierenga K; Purcarin G; Elias ER; Begtrup A; Keller-Ramey J; Bernasocchi T; van de Wiel L; Gilissen C; Venselaar H; Pfundt R; Vissers LELM; Theurillat JP; de Vries BBA
Am J Hum Genet; 2020 Mar; 106(3):405-411. PubMed ID: 32109420
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
