Mariska Davids - Concepedia

Author

Mariska Davids

National Human Genome Research Institute

Also Known As

Andrea L. Gropman, Daniel Doherty, David D. Draper, Elizabeth A. Burke, Emilie D. Douine, Jennefer N. Kohler, M S Davids, M. Davids, Mariska Davids, May Christine V. Malicdan

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute Office of the Director National Institutes of Health Amsterdam UMC Location Vrije Universiteit Amsterdam Baylor College of Medicine

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	28	1.6K
2	Health Sciences	4	4	114
3	Natural Sciences	4	4	212
4	Engineering	2	2	261
5	Public Health	1	1	28

Mariska Davids

Publications

Citations

H-Index

Page 1

	Year	Citations
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome Julia Wang, Rami Al‐Ouran, Yanhui Hu, The American Journal of Human Genetics	2017	217
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Rachel Ramoni, John J. Mulvihill, David R. Adams, The American Journal of Human Genetics Disease DiagnosisNetwork ScienceHealth InformaticsData ScienceData Mining	2017	181
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich, Genetics in Medicine Developmental BiologyGenetic DisorderGeneticsInherited Metabolic DiseasePathology	2016	145
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologySyndromic Neurodevelopmental DisorderMendelian Disorder	2016	118
IRF2BPL Is Associated with Neurological Phenotypes Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, The American Journal of Human Genetics NeurologyNeuroscienceMolecular NeurobiologyNeuropathologyMedicine	2018	108
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth, The American Journal of Human Genetics Cell DivisionBiochemistryLysosomal AcidificationGeneticsLysosomal Storage	2019	93
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Keren Machol, Justine Rousseau, Sophie Ehresmann, The American Journal of Human Genetics	2018	88
Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine Mariska Davids, Joseph Ndika, Gajja S. Salomons, FEBS Letters	2012	86
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype Vandana Shashi, Loren D.M. Peña, Katherine Kim, The American Journal of Human Genetics Allelic VariantSystems BiologySomatic VariantGenetic DisorderGenetics	2016	86
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann, Genetics in Medicine EngineeringMedicineComprehensive Iterative ApproachDiagnosisPathology	2018	80

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