Zeynep H. Coban Akdemir

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 752 citations · Full text

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James et al. · Genetics in Medicine · 2015 · 235 citations · Full text

Molecular Diagnostic Techniques, Sequencing, Medicine +7

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Bi-allelic Tango2 Mutations, Cardiac Muscle, Cardiomyopathy +9