Detalhe da pesquisa
1.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
2.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
3.
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Int J Mol Sci
; 23(16)2022 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012658
4.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
5.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
7.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
8.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343630
9.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
10.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687708
11.
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Clin Genet
; 94(6): 528-537, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30221345
12.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
13.
Intellectual Disability & Rare Disorders: A Diagnostic Challenge.
Adv Exp Med Biol
; 1031: 39-54, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214565
14.
Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.
Am J Med Genet A
; 164A(12): 3083-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25251319
15.
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
J Med Genet
; 50(8): 521-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636107
16.
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Neurol Genet
; 9(6): e200100, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38035175
17.
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Front Neurol
; 14: 1170005, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273706
18.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37841849
19.
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.
Am J Med Genet A
; 158A(5): 1111-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495764
20.
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.
Neurol Genet
; 8(3): e668, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655586