Concepedia

Mariska Davids

MD

38

Publications

2K

Citations

25

H-Index

1985

Active since

Affiliations

National Human Genome Research Institute(Current)

Office of the Director

National Institutes of Health

Amsterdam UMC Location Vrije Universiteit Amsterdam

Baylor College of Medicine

Mariska Davids is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1985–2023

38

Publications

38

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 181 citations · Full text

, , +12

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich et al. · Genetics in Medicine · 2016 · 145 citations · Full text

, , +6

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text

, , +11

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

, , +4

Rows per page

1–5 of 38