225 related articles for article (PubMed ID: 32737394)
1. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
[TBL] [Abstract][Full Text] [Related]
2. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
3. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
Mumtaz S; Yıldız E; Jabeen S; Khan A; Tolun A; Malik S
Am J Med Genet A; 2015 Dec; 167A(12):3148-52. PubMed ID: 26333564
[TBL] [Abstract][Full Text] [Related]
4. Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
Goldsmith H; Wells A; Sá MJN; Williams M; Heussler H; Buckman M; Pfundt R; de Vries BBA; Goel H
Am J Med Genet A; 2019 Sep; 179(9):1872-1877. PubMed ID: 31207095
[TBL] [Abstract][Full Text] [Related]
5. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Rafiq MA; Leblond CS; Saqib MA; Vincent AK; Ambalavanan A; Khan FS; Ayaz M; Shaheen N; Spiegelman D; Ali G; Amin-ud-Din M; Laurent S; Mahmood H; Christian M; Ali N; Fennell A; Nanjiani Z; Egger G; Caron C; Waqas A; Ayub M; Rasheed S; Forgeot d'Arc B; Johnson A; So J; Brohi MQ; Mottron L; Ansar M; Vincent JB; Xiong L
BMC Med Genet; 2015 Jun; 16():41. PubMed ID: 26104215
[TBL] [Abstract][Full Text] [Related]
6. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.
Abdel-Salam GMH; Abdel-Hamid MS
J Hum Genet; 2024 Jun; 69(6):263-270. PubMed ID: 38459224
[TBL] [Abstract][Full Text] [Related]
9. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Fritzen D; Kuechler A; Grimmel M; Becker J; Peters S; Sturm M; Hundertmark H; Schmidt A; Kreiß M; Strom TM; Wieczorek D; Haack TB; Beck-Wödl S; Cremer K; Engels H
Hum Genet; 2018 May; 137(5):401-411. PubMed ID: 29796876
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H; Dronzek J; Gonzaga-Jauregui C; Chim SM; Rajamani S; Nuwayhid S; Delgado D; Burke E; Karaca E; Franklin MC; Sarangapani P; Podgorski M; Tang Y; Dominguez MG; Withers M; Deckelbaum RA; Scheonherr CJ; Gahl WA; Malicdan MC; Zambrowicz B; Gale NW; Gibbs RA; Chung WK; Lupski JR; Economides AN
Hum Mol Genet; 2021 Jan; 29(21):3516-3531. PubMed ID: 33105479
[TBL] [Abstract][Full Text] [Related]
12. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP; Khan V; Khan FS; Mughal ZU; Chakchouk I; Lee K; Rasheed M; Hamza R; Acharya A; Ullah E; Saqib MAN; Abbe I; Ali G; Hassan MJ; Khan S; Azeem Z; Ullah I; Bamshad MJ; Nickerson DA; Schrauwen I; Ahmad W; Ansar M; Leal SM
Hum Genet; 2018 Sep; 137(9):735-752. PubMed ID: 30167849
[TBL] [Abstract][Full Text] [Related]
13. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
[TBL] [Abstract][Full Text] [Related]
14. First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Rejeb I; Jilani H; Elaribi Y; Hizem S; Hila L; Zillahrdt JL; Chelly J; Benjemaa L
BMC Med Genet; 2017 Nov; 18(1):134. PubMed ID: 29149870
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
Nazmina G; Khan A; Jiang J; Miao Z; Khan SN; Khan MI; Shah AH; Shah AH; Khisroon M; Haack TB
Clin Genet; 2024 Apr; 105(4):423-429. PubMed ID: 38088234
[TBL] [Abstract][Full Text] [Related]
16. Biallelic variants in
Okur V; Ganapathi M; Wilson A; Chung WK
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
[TBL] [Abstract][Full Text] [Related]
17. Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R; Faqeih E; Ansari S; Abdel-Salam G; Al-Hassnan ZN; Al-Shidi T; Alomar R; Sogaty S; Alkuraya FS
Genome Res; 2014 Feb; 24(2):291-9. PubMed ID: 24389050
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
Dastan J; Chijiwa C; Tang F; Martell S; Qiao Y; Rajcan-Separovic E; Lewis MES
BMC Med Genet; 2016 Nov; 17(1):78. PubMed ID: 27832746
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
