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Medcomm|September 10, 2025
Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient RegistryBarbara Vona, Bernd Wollnik, Nicola Strenzke, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblingsIrem Kalay, Hüseyin Aykut, Zuhal Caliskan, et al.
Annales De Genetique|April 2, 2003
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish familyBernd Wollnik, Hulya Kayserili, Oya Uyguner, et al.
Plos One|March 26, 2013
Activating somatic FGFR2 mutations in breast cancerNadine Reintjes, Yun Li, Alexandra Becker, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 7, 2007
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activationErin D Lew, Jae Hyun Bae, Edyta Rohmann, et al.
Kulak Burun Bogaz Ihtisas Dergisi : KBB = Journal of Ear, Nose, and Throat|December 31, 2003
[Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss]Füsun Düzcan, Bernd Wollnik, Emre Tepeli, et al.
American Journal of Medical Genetics. Part A|December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotypeFranziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 22, 2006
Phenotype reveals genotype in a Greek long QT syndrome familyAris Anastasakis, Christina-Maria Kotta, Stavros Kyriakogonas, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patientHülya Kayserili, Bernd Wollnik, Gamze Güven, et al.
Human Molecular Genetics|May 5, 2017
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsyAlexandra Pinggera, Luisa Mackenroth, Andreas Rump, et al.
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