Publications

L\'ıdia Maria André, Ryan Campbell, Eleanor D'Arcy, Aiden Farrell, Dáire Healy, Lydia Kakampakou, Conor Murphy, Callum John Rowlandson Murphy-Barltrop, and Matthew Speers. Extreme value methods for estimating rare events in Utopia. Extremes (Boston), Springer Science and Business Media LLC, November 2024. [PUMA: Extreme Utopia Yaff estimating events methods rare value]

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]