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1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38091987
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-31785789
4.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Article
in English
| MEDLINE | ID: mdl-33528536
5.
Mobile element insertion detection in 89,874 clinical exomes.
Genet Med
; 22(5): 974-978, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31965078
6.
IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis.
J Allergy Clin Immunol
; 144(3): 750-763, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31129129
7.
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
Hered Cancer Clin Pract
; 17: 19, 2019.
Article
in English
| MEDLINE | ID: mdl-31341520
8.
Germline pathogenic variants identified in women with ovarian tumors.
Gynecol Oncol
; 151(3): 481-488, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30322717
9.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36879130
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