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1.
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Proc Natl Acad Sci U S A
; 119(35): e2202764119, 2022 08 30.
Article
in English
| MEDLINE | ID: mdl-35998220
2.
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Hum Mol Genet
; 29(18): 3054-3063, 2020 11 04.
Article
in English
| MEDLINE | ID: mdl-32885237
3.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31402090
4.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
J Cell Mol Med
; 25(5): 2459-2470, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33476483
5.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-29464339
6.
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
NPJ Genom Med
; 9(1): 21, 2024 Mar 22.
Article
in English
| MEDLINE | ID: mdl-38519481
7.
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Eur J Hum Genet
; 31(3): 353-359, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36207621
8.
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Eur J Hum Genet
; 31(10): 1175-1180, 2023 10.
Article
in English
| MEDLINE | ID: mdl-36997679
9.
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Res Sq
; 2023 Oct 28.
Article
in English
| MEDLINE | ID: mdl-37961520
10.
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Front Psychiatry
; 13: 858238, 2022.
Article
in English
| MEDLINE | ID: mdl-35350424
11.
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Eur J Hum Genet
; 31(10): 1196-1198, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37106145
12.
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation.
Sci Rep
; 6: 20369, 2016 Feb 03.
Article
in English
| MEDLINE | ID: mdl-26838027
13.
Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Eur J Hum Genet
; 23(10): 1370-7, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-25585696
14.
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
J Neurodev Disord
; 6(1): 17, 2014.
Article
in English
| MEDLINE | ID: mdl-25050139
15.
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Eur J Hum Genet
; 22(10): 1165-71, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24518835
16.
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Autism Res
; 7(2): 254-63, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24634087
17.
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Eur J Hum Genet
; 23(9): 1113-5, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25537359
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