Detalhe da pesquisa
1.
Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research.
Twin Res Hum Genet
; 26(1): 10-20, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896826
2.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633740
3.
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.
Mol Cell Proteomics
; 19(7): 1145-1160, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317297
4.
Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.
Am J Med Genet C Semin Med Genet
; 184(2): 256-266, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452638
5.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
6.
Candidate gene variant effects on language disorders in Robinson Crusoe Island.
Ann Hum Biol
; 46(2): 109-119, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132892
7.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
8.
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
Hum Mol Genet
; 24(19): 5404-15, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26160915
9.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625026
10.
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
PLoS Genet
; 9(12): e1004034, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385928
11.
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
Am J Med Genet A
; 167(6): 1330-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899669
12.
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Am J Hum Genet
; 88(4): 508-15, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473986
13.
Corrigendum: Genome-wide association study of motor coordination.
Front Hum Neurosci
; 18: 1360116, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38322780
14.
The Genetic and Molecular Basis of Developmental Language Disorder: A Review.
Children (Basel)
; 9(5)2022 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626763
15.
Genome-Wide Association Study of Motor Coordination.
Front Hum Neurosci
; 15: 669902, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177493
16.
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Commun Biol
; 3(1): 180, 2020 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313182
17.
The Genetic Population Structure of Robinson Crusoe Island, Chile.
Front Genet
; 11: 669, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676101
18.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Orphanet J Rare Dis
; 9: 43, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24674232
19.
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
Eur J Med Genet
; 53(5): 337-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20670697