Detalhe da pesquisa
1.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proc Natl Acad Sci U S A
; 120(21): e2302584120, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186866
2.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
3.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
4.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet
; 101(2): 255-259, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713892
5.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
6.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
7.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
8.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
9.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
10.
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Am J Hum Genet
; 97(3): 475-82, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299364
11.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
12.
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.
Neuropediatrics
; 49(2): 118-122, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29253910
13.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325361
14.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23144622
15.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Hum Mutat
; 34(1): 237-47, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033313
16.
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Hum Mutat
; 34(1): 111-21, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829427
17.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
J Med Genet
; 48(4): 273-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266384
18.
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
J Allergy Clin Immunol
; 137(3): 955-7.e8, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560041
19.
Working From Home During the COVID-19 Pandemic: The Association With Work Productivity Loss Among Patients and Caregivers.
J Occup Environ Med
; 64(11): e677-e684, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941740
20.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992