Detalhe da pesquisa
1.
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Cell
; 176(3): 505-519.e22, 2019 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612738
2.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
3.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
4.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
5.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
6.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
7.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
8.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050398
9.
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Am J Hum Genet
; 95(6): 649-59, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466284
10.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862890
11.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
J Med Genet
; 53(3): 152-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26543203
12.
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Am J Med Genet A
; 170A(1): 94-102, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358559
13.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
14.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet
; 134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724810
15.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
16.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
17.
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Am J Hum Genet
; 86(2): 254-61, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20137777
18.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
19.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Hum Mutat
; 33(8): 1261-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22539336
20.
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Am J Med Genet A
; 158A(9): 2091-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821852