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Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.The Lancet Regional Health. Western Pacific|July 30, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costsClaudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, et al.American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.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.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.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.Pageof 8