Nataliya Di Donato
17PUBLICATIONS
132CO-AUTHORS
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Publications (17)
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|Dec 10, 2025
Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.Indra Niehaus, Michaela Wilsch-Bräuninger, Felipe Mora-Bermúdez
|Jun 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Axel Schmidt, Magdalena Danyel, Kathrin Grundmann
|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.Beth L Woodward, Sudipta Lahiri, Anoop S Chauhan
|Jul 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Axel Schmidt, Magdalena Danyel, Kathrin Grundmann
|Oct 03, 2022
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.Bernt Popp, Melanie Brugger, Sibylle Poschmann
|Jun 04, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.Filomena Pirozzi, Benson Lee, Nicole Horsley
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Frequent Collaborators
3 joint publications
Andreas Tzschach
3 joint publications
Johannes R Lemke
3 joint publications
Melanie Brugger
3 joint publications
Rami Abou Jamra
3 joint publications
Thomas Meitinger
3 joint publications
Theresa Brunet
2 joint publications
William B Dobyns
2 joint publications
Sharissa L Latham
2 joint publications
Manuel H Taft
2 joint publications
Barbara Klink
