195 related articles for article (PubMed ID: 35240055)
1. 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]
2. 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]
3. 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]
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. 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]
6. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M; Chung HL; Al-Otaibi A; Elagabani MN; Ravenscroft TA; Paracha SA; Scholz R; Abdel Magid T; Sarwar MT; Shah SF; Qaisar AA; Makrythanasis P; Marcogliese PC; Kamsteeg EJ; Falconnet E; Ranza E; Santoni FA; Aldhalaan H; Al-Asmari A; Faqeih EA; Ahmed J; Kornau HC; Bellen HJ; Antonarakis SE
Am J Hum Genet; 2019 Nov; 105(5):907-920. PubMed ID: 31607425
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Allelic strengths of encephalopathy-associated
Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ
Elife; 2023 Dec; 12():. PubMed ID: 38079206
[TBL] [Abstract][Full Text] [Related]
9. Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Huang Y; Mao X; van Jaarsveld RH; Shu L; Terhal PA; Jia Z; Xi H; Peng Y; Yan H; Yuan S; Li Q; Wang H; Bellen HJ
Hum Mol Genet; 2020 Jun; 29(9):1537-1546. PubMed ID: 32338762
[TBL] [Abstract][Full Text] [Related]
10. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Characterization of STEF, a guanine nucleotide exchange factor for Rac1, required for neurite growth.
Matsuo N; Hoshino M; Yoshizawa M; Nabeshima Y
J Biol Chem; 2002 Jan; 277(4):2860-8. PubMed ID: 11707441
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS; Duncan AR; Genetti CA; Pan H; Jackson A; Grant PE; Shi J; Pinelli M; Brunetti-Pierri N; Garza-Flores A; Shahani D; Saneto RP; Zampino G; Leoni C; Agolini E; Novelli A; Blümlein U; Haack TB; Heinritz W; Matzker E; Alhaddad B; Abou Jamra R; Bartolomaeus T; AlHamdan S; Carapito R; Isidor B; Bahram S; Ritter A; Izumi K; Shakked BP; Barel O; Ben Zeev B; Begtrup A; Carere DA; Mullegama SV; Palculict TB; Calame DG; Schwan K; Aycinena ARP; Traberg R; ; Douzgou S; Pirt H; Ismayilova N; Banka S; Chao HT; Agrawal PB
Am J Hum Genet; 2023 Jan; 110(1):120-145. PubMed ID: 36528028
[TBL] [Abstract][Full Text] [Related]
16. A homozygous loss-of-function
Chia PH; Zhong FL; Niwa S; Bonnard C; Utami KH; Zeng R; Lee H; Eskin A; Nelson SF; Xie WH; Al-Tawalbeh S; El-Khateeb M; Shboul M; Pouladi MA; Al-Raqad M; Reversade B
Elife; 2018 May; 7():. PubMed ID: 29784083
[TBL] [Abstract][Full Text] [Related]
17. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N; Tan EC; Begemann M; Buschmann L; Kraft F; Holschbach P; Lai AHM; Brett M; Mochida GH; DiTroia S; Pais L; Neil JE; Al-Saffar M; Bastaki L; Walsh CA; Kurth I; Knopp C
Eur J Hum Genet; 2021 Nov; 29(11):1663-1668. PubMed ID: 34413497
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
