Concepedia

Stephanie Andres

SA

Statistics

Publications

6

Citations

130

H-Index

6

Active since

2009

Affiliations

Helmholtz Zentrum München(Current)

Technical University of Munich

University of Tübingen

Klinikum rechts der Isar

Stephanie Andres is an author at Helmholtz Zentrum München specializing in genetics, medicine, and social sciences.

ORCID

Top concepts

Publications per year

2009–2025

6

Publications

6

Analysis of Factor D Isoforms in Malpuech–Michels–Mingarelli–Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement

Rasmus Pihl, Lisbeth Jensen, Annette G. Hansen et al. · The Journal of Immunology · 2017 · 54 citations

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

Carmen Morales, Irene Mademont‐Soler, Lluı́s Armengol et al. · Cytogenetic and Genome Research · 2009 · 16 citations

MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34

Dominik S. Westphal, Stephanie Andres, Christine Makowski et al. · Frontiers in Genetics · 2018 · 13 citations · Full text

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders

Theresa Brunet, Riccardo Berutti, Veronika Dill et al. · Human Molecular Genetics · 2022 · 11 citations · Full text

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