Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
3.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961568
4.
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Genet Med
; 23(3): 488-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077892
5.
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
6.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
7.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat
; 40(5): 578-587, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710461
8.
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
9.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
10.
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
J Med Genet
; 55(2): 114-121, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074561
11.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
J Allergy Clin Immunol
; 142(4): 1285-1296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477724
12.
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Mol Vis
; 24: 603-612, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30210231
13.
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
Retina
; 38(3): 620-628, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28234808
14.
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Hum Mol Genet
; 23(12): 3269-77, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476948
15.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 92(3): 354-65, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453667
16.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
17.
Phenotypic insights into ADCY5-associated disease.
Mov Disord
; 31(7): 1033-40, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061943
18.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Am J Med Genet A
; 179(8): 1665-1671, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192531
19.
Using human genetics to improve safety assessment of therapeutics.
Nat Rev Drug Discov
; 22(2): 145-162, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261593
20.
Genomic variation in the vomeronasal receptor gene repertoires of inbred mice.
BMC Genomics
; 13: 415, 2012 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22908939