Publications

Najia Ahmadi, Michele Zoch, Oya Guengoeze, Carlo Facchinello, Antonia Mondorf, Katharina Stratmann, Khader Musleh, Hans-Peter Erasmus, Jana Tchertov, Richard Gebler, Jannik Schaaf, Lena S Frischen, Azadeh Nasirian, Jiabin Dai, Elisa Henke, Douglas Tremblay, Andrew Srisuwananukorn, Martin Bornhäuser, Christoph Röllig, Jan-Niklas Eckardt, Jan Moritz Middeke, Markus Wolfien, and Martin Sedlmayr. How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned. Orphanet journal of rare diseases, (19)1BioMed Central, London, Aug 14, 2024. [PUMA: topic_lifescience Diseases FIS_scads Humans, Rare]

Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, and John A. Capra. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants. Human Genetics and Genomics Advances, (3)4:100131, 2022. [PUMA: topic_lifescience DEE, Diseases KCNC2, Network, Undiagnosed and biology, developmental disease dynamics electrophysiology, encephalopathy, epileptic interpretation, molecular personalized rare simulations, structural variant variant,] URL

Souhrid Mukherjee, Joy D Cogan, John H Newman, John A Phillips, 3rd, Rizwan Hamid, Undiagnosed Diseases Network, Jens Meiler, and John A Capra. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am. J. Hum. Genet., (108)10:1946--1963, Elsevier BV, October 2021. [PUMA: Diseases Network; UDN; Undiagnosed clinical digenic disease disease; learning; machine oligogenic prediction; rare topic_lifescience]