Concepedia

Alexej Knaus

AK

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Publications

31

Citations

1.2K

H-Index

21

Active since

2005

Affiliations

Charité - Universitätsmedizin Berlin(Current)

University Hospital Bonn

University of Bonn

Berlin Institute of Health at Charité - Universitätsmedizin Berlin

Berlin-Brandenburger Centrum für Regenerative Therapien

Alexej Knaus is an author at Charité - Universitätsmedizin Berlin specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2005–2024

31

Publications

31

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 208 citations · Full text

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat et al. · Genome Medicine · 2018 · 88 citations · Full text

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PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

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VarFish: comprehensive DNA variant analysis for diagnostics and research

Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen et al. · Nucleic Acids Research · 2020 · 78 citations · Full text

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2019 · 61 citations · Full text

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1–5 of 31