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American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.Clinical and Translational Science|June 8, 2018
Assay Guidance Manual: Quantitative Biology and Pharmacology in Preclinical Drug DiscoveryNathan P Coussens, G Sitta Sittampalam, Rajarshi Guha, et al.American Journal of Medical Genetics. Part A|March 23, 2017
22q11.2 deletion syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.Cell|June 6, 2015
Advancing Biological Understanding and Therapeutics Discovery with Small-Molecule ProbesStuart L Schreiber, Joanne D Kotz, Min Li, et al.American Journal of Medical Genetics. Part A|December 20, 2016
Down syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Andrew K Sobering, et al.American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.Nature Communications|January 19, 2017
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutationsYvonne Y Li, Grace T Y Chung, Vivian W Y Lui, et al.American Journal of Medical Genetics. Part A|December 20, 2019
Turner syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, et al.American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.Pageof 195