208 related articles for article (PubMed ID: 34707297)
1. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel AL; Vitobello A; Thiffault I; Manwaring L; Willing M; Agrawal PB; Bayat A; Kitzler TM; Brownstein CA; Genetti CA; Gonzalez-Heydrich J; Jayakar P; Zyskind JW; Zhu Z; Vachet C; Wilson GR; Pruniski B; Goyette AM; Duffourd Y; Thauvin-Robinet C; Philippe C; Faivre L
Eur J Hum Genet; 2022 Jan; 30(1):111-116. PubMed ID: 34707297
[TBL] [Abstract][Full Text] [Related]
2. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
3. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; Ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT
Am J Hum Genet; 2021 Sep; 108(9):1692-1709. PubMed ID: 34375587
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
[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. 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]
10. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E
Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683
[TBL] [Abstract][Full Text] [Related]
11. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi A; Blok LS; Neuser S; Klöckner C; Platzer K; Faivre LO; Weigand H; Dentici ML; Tartaglia M; Niceta M; Alfieri P; Srivastava S; Coulter D; Smith L; Vinorum K; Cappuccio G; Brunetti-Pierri N; Torun D; Arslan M; Lauridsen MF; Murch O; Irving R; Lynch SA; Mehta SG; Carmichael J; Zonneveld-Huijssoon E; de Vries B; Kleefstra T; Johannesen KM; Westphall IT; Hughes SS; Smithson S; Evans J; Dudding-Byth T; Simon M; van Binsbergen E; Herkert JC; Beunders G; Oppermann H; Bakal M; Møller RS; Rubboli G; Bayat A
Clin Genet; 2023 Aug; 104(2):186-197. PubMed ID: 37165752
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[TBL] [Abstract][Full Text] [Related]
14. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Powis Z; Petrik I; Cohen JS; Escolar D; Burton J; van Ravenswaaij-Arts CMA; Sival DA; Stegmann APA; Kleefstra T; Pfundt R; Chikarmane R; Begtrup A; Huether R; Tang S; Shinde DN
Clin Genet; 2018 May; 93(5):1030-1038. PubMed ID: 29251763
[TBL] [Abstract][Full Text] [Related]
15.
Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ;
J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K; Brimble E; Poduri A
Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
[TBL] [Abstract][Full Text] [Related]
18. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Garber A; Weingarten LS; Abreu NJ; Elloumi HZ; Haack T; Hildebrant C; Martínez-Gil N; Mathews J; Müller AJ; Valenzuela Palafoll I; Steigerwald C; Chung WK
Am J Med Genet A; 2024 Jul; 194(7):e63578. PubMed ID: 38425142
[TBL] [Abstract][Full Text] [Related]
19. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with
Balasubramanian M; Willoughby J; Fry AE; Weber A; Firth HV; Deshpande C; Berg JN; Chandler K; Metcalfe KA; Lam W; Pilz DT; Tomkins S
J Med Genet; 2017 Aug; 54(8):537-543. PubMed ID: 28100473
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
