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Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Brain : a Journal of Neurology|December 18, 2025
A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive developmentLuisa Weiss, Macarena Pavez, Anastasia Labudina, et al.
Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
American Journal of Human Genetics|August 4, 2023
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disordersAlba Sanchis-Juan, Karyn Megy, Jonathan Stephens, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variantsBruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, et al.
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