Concepedia

Kirsten Cremer

KC

Statistics

Publications

34

Citations

3.6K

H-Index

25

Active since

2010

Affiliations

University of Bonn(Current)

Helmholtz Zentrum München

University Hospital Bonn

Technical University of Munich

Heinrich Heine University Düsseldorf

Kirsten Cremer is an author at University of Bonn specializing in life sciences, genetics, and medical genetics.

Publications per year

2010–2024

34

Publications

34

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior et al. · The American Journal of Human Genetics · 2012 · 273 citations · Full text

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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

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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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Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 179 citations · Full text

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