Peter Bauer

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

A. Bertoli-Avella, Ruxandra Aanicai, Anna H Hakonen, 2023, Clinical genetics.

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema

Iuliana Susnea, D. Csuka, M. Iuraşcu, 2023, Clinical and translational allergy.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

R. Maroofian, H. Houlden, S. Miyatake, 2023, medRxiv.

Moyamoya disease in Southeast Asians: genetic and autopsy data, new cases, systematic review, and meta-analysis of all patients from the literature

M. Kraemer, D. Strunk, J. Schwitalla, 2024, Journal of neurology.

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

A. Bertoli-Avella, Peter Bauer, Melisa Naranjo Vanegas, 2024, European journal of human genetics : EJHG.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

F. Lecoquierre, B. Cogné, W. Deb, 2024, European journal of medical genetics.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

F. Alkuraya, A. Bertoli-Avella, A. A. Tayoun, 2024, medRxiv.