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Clinical Dysmorphology|June 1, 2017
Pierpont syndrome: report of a new patientAnne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, et al.
European Journal of Medical Genetics|July 27, 2020
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeSonja Walsh, Sophie Scarlett Gösswein, Andreas Rump, et al.
Congenital Heart Disease|October 2, 2018
Patients with congenital heart defect and their families support genetic heart researchPaul C Helm, Ulrike M M Bauer, Hashim Abdul-Khaliq, et al.
European Journal of Medical Genetics|May 15, 2018
Novel truncating PPM1D mutation in a patient with intellectual disabilityJoseph Porrmann, Andreas Rump, Karl Hackmann, et al.
Breast Cancer Research and Treatment|September 2, 2016
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGHKarl Hackmann, Franziska Kuhlee, Elitza Betcheva-Krajcir, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomaliesJoseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, et al.
Clinical Epigenetics|June 13, 2019
DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMsKirstin Hoff, Marta Lemme, Anne-Karin Kahlert, et al.
Cardiovascular Research|October 16, 2023
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulatorsJirko Kühnisch, Simon Theisen, Josephine Dartsch, et al.
Stem Cell Reports|February 22, 2020
Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock ProteinsMasin Abo-Rady, Norman Kalmbach, Arun Pal, et al.
Plos One|September 24, 2020
Correction: Diagnostic value of partial exome sequencing in developmental disordersLaura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, et al.
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