Detalhe da pesquisa
1.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
2.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
3.
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
4.
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Am J Med Genet A
; 194(4): e63501, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38082334
5.
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
Clin Auton Res
; 34(1): 191-201, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38064009
6.
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet
; 60(4): 352-358, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36002240
7.
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.
Hum Mol Genet
; 30(8): 658-671, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729517
8.
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.
Am J Med Genet A
; 191(4): 983-994, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36710374
9.
The impact of GeneMatcher on international data sharing and collaboration.
Hum Mutat
; 43(6): 668-673, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170833
10.
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
11.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820033
12.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Hum Genet
; 140(9): 1299-1312, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185153
13.
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
Am J Med Genet A
; 185(3): 798-805, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368972
14.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
J Clin Immunol
; 40(6): 917-926, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32638197
15.
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
Clin Genet
; 98(5): 499-506, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799327
16.
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Am J Med Genet A
; 182(7): 1664-1672, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369272
17.
The utility of exome sequencing for fetal pleural effusions.
Prenat Diagn
; 40(5): 590-595, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31994743
18.
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
19.
The impact of chromosomal microarray on clinical management: a retrospective analysis.
Genet Med
; 16(9): 657-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625444
20.
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