Concepedia

Felix Distelmaier

FD

Statistics

Publications

80

Citations

4.8K

H-Index

39

Active since

2004

Affiliations

Heinrich Heine University Düsseldorf(Current)

Düsseldorf University Hospital

Technical University of Munich

Helmholtz Zentrum München

Radboud University Nijmegen

Felix Distelmaier is an author at Heinrich Heine University Düsseldorf specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2004–2023

80

Publications

80

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

, , +17

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 214 citations · Full text

, , +14

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

, , +17

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

, , +12

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Tobias B. Haack, Christian Staufner, Marlies Köpke et al. · The American Journal of Human Genetics · 2015 · 133 citations · Full text

, , +16

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