Detalhe da pesquisa
1.
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS Genet
; 18(12): e1010504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480544
2.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276377
3.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
4.
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Am J Med Genet A
; 182(7): 1796-1800, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32420688
5.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777491
6.
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Genome Res
; 21(10): 1720-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890680
7.
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.
Am J Med Genet A
; 164A(5): 1170-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478002
8.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
PLoS Genet
; 6(6): e1000991, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20577567
9.
The characterization of twenty sequenced human genomes.
PLoS Genet
; 6(9): e1001111, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838461
10.
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Mol Genet Genomic Med
; 9(4): e1655, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33719213
11.
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome.
Clin Dysmorphol
; 32(4): 172-174, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678402
12.
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
Eur J Med Genet
; 61(3): 134-138, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29169895
13.
Matchmaker Exchange.
Curr Protoc Hum Genet
; 95: 9.31.1-9.31.15, 2017 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044468