111 related articles for article (PubMed ID: 36332614)
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; ; ; 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]
2. 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]
3. 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]
4. 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]
5. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A; Wieczorek D; Graf E; Wieland T; Endele S; Schwarzmayr T; Albrecht B; Bartholdi D; Beygo J; Di Donato N; Dufke A; Cremer K; Hempel M; Horn D; Hoyer J; Joset P; Röpke A; Moog U; Riess A; Thiel CT; Tzschach A; Wiesener A; Wohlleber E; Zweier C; Ekici AB; Zink AM; Rump A; Meisinger C; Grallert H; Sticht H; Schenck A; Engels H; Rappold G; Schröck E; Wieacker P; Riess O; Meitinger T; Reis A; Strom TM
Lancet; 2012 Nov; 380(9854):1674-82. PubMed ID: 23020937
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Recurrent
Tan NB; Pagnamenta AT; Ferla MP; Gadian J; Chung BH; Chan MC; Fung JL; Cook E; Guter S; Boschann F; Heinen A; Schallner J; Mignot C; Keren B; Whalen S; Sarret C; Mittag D; Demmer L; Stapleton R; Saida K; Matsumoto N; Miyake N; Sheffer R; Mor-Shaked H; Barnett CP; Byrne AB; Scott HS; Kraus A; Cappuccio G; Brunetti-Pierri N; Iorio R; Di Dato F; Pais LS; Yeung A; Tan TY; Taylor JC; Christodoulou J; White SM
J Med Genet; 2022 May; 59(5):511-516. PubMed ID: 34183358
[TBL] [Abstract][Full Text] [Related]
8. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y; Valenzuela I; Accogli A; Ballon K; Ben-Zeev B; Berkovic SF; Broly M; Callaerts P; Caylor RC; Charles P; Chatron N; Cohen L; Coppola A; Cordeiro D; Cuccurullo C; Cuscó I; Janette diMonda ; Duran-Romaña R; Ekhilevitch N; Fernández-Alvarez P; Gordon CT; Isidor B; Keren B; Lesca G; Maljaars J; Mercimek-Andrews S; Morrow MM; Muir AM; ; Rousseau F; Salpietro V; Scheffer IE; Schnur RE; Schymkowitz J; Souche E; Steyaert J; Stolerman ES; Vengoechea J; Ville D; Washington C; Weiss K; Zaid R; Sadleir LG; Mefford HC; Peeters H
Genet Med; 2022 Dec; 24(12):2464-2474. PubMed ID: 36214804
[TBL] [Abstract][Full Text] [Related]
9. A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.
Xiong J; Chen S; Chen B; Zhang W; Chen C; Deng X; He F; Zhang C; Yang L; Wang Y; Peng J; Yin F
Clin Chim Acta; 2022 May; 530():74-80. PubMed ID: 35247435
[TBL] [Abstract][Full Text] [Related]
10. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE; Kumar R; Gordon CT; Shaw M; Hubert L; Carroll R; Rio M; Murray L; Leffler M; Dudding-Byth T; Oufadem M; Lalani SR; Lewis AM; Xia F; Tam A; Webster R; Brammah S; Filippini F; Pollard J; Spies J; Minoche AE; Cowley MJ; Risen S; Powell-Hamilton NN; Tusi JE; Immken L; Nagakura H; Bole-Feysot C; Nitschké P; Garrigue A; de Saint Basile G; Kivuva E; ; Scott RH; Rendon A; Munnich A; Newman W; Kerr B; Besmond C; Rosenfeld JA; Amiel J; Field M; Gecz J
Am J Hum Genet; 2017 Dec; 101(6):995-1005. PubMed ID: 29198722
[TBL] [Abstract][Full Text] [Related]
11. A
Chen Y; Liu KY; Yang ZL; Li XH; Xu R; Zhou H
Front Pediatr; 2020; 8():303. PubMed ID: 32714884
[No Abstract] [Full Text] [Related]
12. NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
McTiernan N; Støve SI; Aukrust I; Mårli MT; Myklebust LM; Houge G; Arnesen T
BMC Med Genet; 2018 Mar; 19(1):47. PubMed ID: 29558889
[TBL] [Abstract][Full Text] [Related]
13. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
Binaafar S; Razmara E; Mahdieh N; Sahebjame H; Tavasoli AR; Garshasbi M
Eur J Med Genet; 2020 May; 63(5):103853. PubMed ID: 31978613
[TBL] [Abstract][Full Text] [Related]
14. Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
Bader I; McTiernan N; Darbakk C; Boltshauser E; Ree R; Ebner S; Mayr JA; Arnesen T
BMC Med Genet; 2020 Jul; 21(1):153. PubMed ID: 32698785
[TBL] [Abstract][Full Text] [Related]
15. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
[TBL] [Abstract][Full Text] [Related]
16.
Lehalle D; Vabres P; Sorlin A; Bierhals T; Avila M; Carmignac V; Chevarin M; Torti E; Abe Y; Bartolomaeus T; Clayton-Smith J; Cogné B; Cusco I; Duplomb L; De Bont E; Duffourd Y; Duijkers F; Elpeleg O; Fattal A; Geneviève D; Guillen Sacoto MJ; Guimier A; Harris DJ; Hempel M; Isidor B; Jouan T; Kuentz P; Koshimizu E; Lichtenbelt K; Loik Ramey V; Maik M; Miyakate S; Murakami Y; Pasquier L; Pedro H; Simone L; Sondergaard-Schatz K; St-Onge J; Thevenon J; Valenzuela I; Abou Jamra R; van Gassen K; van Haelst MM; van Koningsbruggen S; Verdura E; Whelan Habela C; Zacher P; Rivière JB; Thauvin-Robinet C; Betschinger J; Faivre L
J Med Genet; 2020 Dec; 57(12):808-819. PubMed ID: 32409512
[TBL] [Abstract][Full Text] [Related]
17. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjöld M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; ; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denommé-Pichon AS; ; Férec C; Yang XJ; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bézieau S; Küry S; Campeau PM
Am J Hum Genet; 2019 Mar; 104(3):530-541. PubMed ID: 30827496
[TBL] [Abstract][Full Text] [Related]
18. Koolen-de Vries syndrome: A de novo missense KANSL1 variant.
Yimenicioglu S; Kocaaga A
Clin Neurol Neurosurg; 2022 Nov; 222():107444. PubMed ID: 36150256
[TBL] [Abstract][Full Text] [Related]
19. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
20. A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
Diets IJ; Prescott T; Champaigne NL; Mancini GMS; Krossnes B; Frič R; Kocsis K; Jongmans MCJ; Kleefstra T
Genet Med; 2019 Mar; 21(3):572-579. PubMed ID: 29907796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
