Detalhe da pesquisa
1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
2.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
3.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
4.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
5.
The genetic fingerprint of susceptibility for transplant-associated thrombotic microangiopathy.
Blood
; 127(8): 989-96, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26603840
6.
ABCA7 Deficiency Accelerates Amyloid-ß Generation and Alzheimer's Neuronal Pathology.
J Neurosci
; 36(13): 3848-59, 2016 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030769
7.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
J Neurogenet
; 31(1-2): 30-36, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28460589
8.
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Nat Genet
; 39(2): 168-77, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17220890
9.
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
PLoS Genet
; 8(6): e1002707, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22685416
10.
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
JCI Insight
; 7(5)2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104249
11.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
12.
Investigation of 15 of the top candidate genes for late-onset Alzheimer's disease.
Hum Genet
; 129(3): 273-82, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21132329
13.
Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.
Hum Mol Genet
; 17(7): 929-35, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18065781
14.
PAX1 is essential for development and function of the human thymus.
Sci Immunol
; 5(44)2020 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111619
15.
BRI2 (ITM2b) inhibits Abeta deposition in vivo.
J Neurosci
; 28(23): 6030-6, 2008 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18524908
16.
Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases.
Sci Data
; 3: 160089, 2016 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27727239
17.
A family-based study of the association between the G72/G30 genes and schizophrenia in the Chinese population.
Schizophr Res
; 73(2-3): 257-61, 2005 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15653269
18.
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Front Pediatr
; 3: 67, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284228
19.
Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.
Mol Neurodegener
; 10: 18, 2015 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25881291
20.
Erratum to: Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer's pathophysiology and susceptibility.
Mol Neurodegener
; 10: 49, 2015 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26399695