Concepedia

Sarah Schuhmann

SS

Statistics

Publications

7

Citations

399

H-Index

7

Active since

2017

Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg(Current)

Inserm

Université de Bourgogne

CHU Dijon Bourgogne

Universitätsklinikum Erlangen

Sarah Schuhmann is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in molecular genetics, genetics, and human genetics.

ORCID

Publications per year

2017–2025

7

Publications

7

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Nadine Hauer, Bernt Popp, Schoeller Eva et al. · Genetics in Medicine · 2017 · 147 citations · Full text

, , +17

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema et al. · Genome Medicine · 2021 · 117 citations · Full text

, , +17

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 51 citations · Full text

, , +14

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

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

, , +17

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter et al. · Orphanet Journal of Rare Diseases · 2021 · 15 citations · Full text

, , +17

1–5 of 7