Detalhe da pesquisa
1.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
2.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934770
3.
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
Annu Rev Med
; 73: 575-585, 2022 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084988
4.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450031
5.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743782
6.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
7.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330417
8.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
9.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
; 103(6): 704-708, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861389
10.
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
Am J Med Genet A
; 191(5): 1378-1383, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718996
11.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317458
12.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054313
13.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194938
14.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396900
15.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Hum Mutat
; 42(5): 577-591, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644933
16.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580225
17.
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Genet Med
; 23(12): 2404-2414, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34363016
18.
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Pediatr Diabetes
; 22(7): 960-968, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387403
19.
Cohesin complex-associated holoprosencephaly.
Brain
; 142(9): 2631-2643, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31334757
20.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Genet Med
; 21(9): 2135-2144, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890783