Concepedia

Sophia Peters

SP

Statistics

Publications

21

Citations

981

H-Index

14

Active since

2015

Affiliations

University of Bonn(Current)

University Hospital Bonn

Heinrich Heine University Düsseldorf

Institut für Medizinische Biometrie, Informatik und Epidemiologie

Inserm

Sophia Peters is an author at University of Bonn specializing in genetics, medical genetics, and molecular genetics.

ORCID

Publications per year

2015–2024

21

Publications

21

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

R. Adam, Isabel Spier, Bixiao Zhao et al. · The American Journal of Human Genetics · 2016 · 249 citations · Full text

, , +14

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

, , +4

Low-level <i>APC</i> mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

Isabel Spier, Dmitriy Drichel, Martin Kerick et al. · Journal of Medical Genetics · 2015 · 65 citations · Full text

, , +17

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Axel Schmidt, Sophia Peters, Alexej Knaus et al. · npj Genomic Medicine · 2021 · 59 citations · Full text

, , +14

Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome

Hans Binder, Lydia Hopp, Michal R. Schweiger et al. · The Journal of Pathology · 2017 · 56 citations · Full text

, , +17

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