Concepedia

Ruth Falb

RF

6

Publications

179

Citations

6

H-Index

2021

Active since

Affiliations

University of Tübingen(Current)

Heinrich Heine University Düsseldorf

University Children's Hospital Tübingen

Baylor Genetics

Inserm

Ruth Falb is an author at University of Tübingen specializing in neurogenetics, medicine, and developmental biology.

Top concepts

Publications per year

2021–2023

6

Publications

6

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger et al. · Journal of Medical Genetics · 2023 · 60 citations · Full text

Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex

Ruth Falb, Amelie J. Müller, Wolfram Klein et al. · Journal of Medical Genetics · 2021 · 41 citations · Full text

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung et al. · The American Journal of Human Genetics · 2023 · 29 citations · Full text

, , +10

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

Lucia Laugwitz, Annette Seibt, Diran Herebıan et al. · Journal of Medical Genetics · 2021 · 26 citations · Full text

<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner et al. · Human Molecular Genetics · 2021 · 13 citations · Full text

, , +17

Rows per page

1–5 of 6