Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
3.
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Am J Hum Genet
; 105(6): 1274-1285, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785789
4.
Uniparental disomy in a population of 32,067 clinical exome trios.
Genet Med
; 23(6): 1101-1107, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495530
5.
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome.
Am J Med Genet A
; 185(1): 208-212, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037780
6.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
7.
Mobile element insertion detection in 89,874 clinical exomes.
Genet Med
; 22(5): 974-978, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965078
8.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
9.
IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis.
J Allergy Clin Immunol
; 144(3): 750-763, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129129
10.
Omalizumab normalizes the gene expression signature of lesional skin in patients with chronic spontaneous urticaria: A randomized, double-blind, placebo-controlled study.
Allergy
; 74(1): 141-151, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974963
11.
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
Hered Cancer Clin Pract
; 17: 19, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341520
12.
Germline pathogenic variants identified in women with ovarian tumors.
Gynecol Oncol
; 151(3): 481-488, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322717
13.
Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome.
Ann Rheum Dis
; 76(1): 303-309, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27474763
14.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879130
15.
Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer.
Fam Cancer
; 21(4): 415-422, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981295
16.
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
Hum Genome Var
; 7: 24, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884827