Detalhe da pesquisa
1.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Nature
; 604(7906): 509-516, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396579
2.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
3.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Am J Hum Genet
; 100(2): 334-342, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132693
4.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
5.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
; 99(6): 1305-1315, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889058
6.
Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 180(4): 258-265, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859703
7.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Hum Mutat
; 39(1): 80-91, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967191
8.
Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia.
Ann Hum Genet
; 82(2): 88-92, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29148569
9.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
; 33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334266
10.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Mol Vis
; 24: 603-612, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210231
11.
A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.
Am J Hum Genet
; 95(6): 744-53, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434007
12.
Genetic variation in the miR-708 gene and its binding targets in bipolar disorder.
Bipolar Disord
; 18(8): 650-656, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864917
13.
Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data.
Bipolar Disord
; 16(6): 583-91, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24716743
14.
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
J Parkinsons Dis
; 14(2): 335-346, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38306061
15.
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.
Front Genet
; 14: 1322067, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152653
16.
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Am J Ophthalmol
; 210: 59-70, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31704230
17.
Recessive Retinopathy Consequent on Mutant G-Protein ß Subunit 3 (GNB3).
JAMA Ophthalmol
; 134(8): 924-7, 2016 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27281386
18.
Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.
Eur J Hum Genet
; 23(9): 1200-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25406999
19.
Genetic association, mutation screening, and functional analysis of a Kozak sequence variant in the metabotropic glutamate receptor 3 gene in bipolar disorder.
JAMA Psychiatry
; 70(6): 591-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575746
20.
Association study of rare nonsynonymous variants of FTO in bipolar disorder.
Psychiatr Genet
; 26(3): 140-1, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27105045