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American Journal of Medical Genetics. Part A|June 25, 2013
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDeborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.European Journal of Human Genetics : EJHG|June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Dennis Döcker, Max Schubach, Moritz Menzel, et al.Pediatric Rheumatology Online Journal|April 12, 2022
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case reportPhilip Broser, Ursula von Mengershausen, Katrin Heldt, et al.BMC Medical Genetics|March 2, 2017
Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingRamona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, et al.International Journal of Legal Medicine|August 29, 2019
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac deathJacqueline Neubauer, Zizun Wang, Jean-Sébastien Rougier, et al.Aging Cell|May 17, 2024
LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 geneAlyssia Matter, Christina Kaufman, Nadia Zürcher, et al.Cureus|May 4, 2026
Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature ReviewPhilipp Becker, Tomas Dobrocky, Jan Gralla, et al.Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.American Journal of Medical Genetics. Part A|March 26, 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genesDeborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, et al.Acta Physiologica (Oxford, England)|February 14, 2022
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndromeLina Liang, Huihui Liu, Deborah Bartholdi, et al.Pageof 5