Radka Stoeva

7PUBLICATIONS
137CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Sep 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira

|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

|Feb 20, 2024
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou

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Frequent Collaborators

3 joint publications

Andre Reis

3 joint publications

Christiane Zweier

3 joint publications

Esther Nibbeling

3 joint publications

Lucie Dupuis