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Mariska Davids

National Institutes of Health(US)

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68

Papers

2.9K

Citations

31

h-index

53

i10-index

Mariska Davids is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Nitric Oxide and Endothelin Effects. The author has an h-index of 31, co-authored 58 publications.

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Nitric Oxide and Endothelin Effects Genetic and Kidney Cyst Diseases Neuroscience of respiration and sleep

Papers by this author

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

2017 · Genetics in Medicine · 52 citations

https://doi.org/10.1038/gim.2017.128

Loren D.M. Peña Yong‐Hui Jiang Kelly Schoch Rebecca C. Spillmann

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

2023 · npj Genomic Medicine · 16 citations

https://doi.org/10.1038/s41525-022-00343-8

Marie Morimoto Vikas Bhambhani Nour Gazzaz Mariska Davids

Research topics

topics

Genetics and Neurodevelopmental Disorders

Genomics and Rare Diseases

Nitric Oxide and Endothelin Effects

Genetic and Kidney Cyst Diseases

Neuroscience of respiration and sleep

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