Enrico D.H. Konrad

Statistics

Publications

Citations

140

H-Index

Active since

2017

Affiliations

Boston Children's Hospital(Current)

Radboud University Nijmegen

Sheffield Children's Hospital

Friedrich-Alexander-Universität Erlangen-Nürnberg

Enrico D.H. Konrad is an author at Boston Children's Hospital specializing in neurodevelopmental disorder mutations, genetic disorders, and life sciences.

Publications per year

2017–2019

Publications

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub, Enrico D.H. Konrad, Johanna Grüner et al. · The American Journal of Human Genetics · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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