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Human Genetics|January 26, 2002
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneTin Aung, Louise Ocaka, Neil D Ebenezer, et al.Plos One|October 13, 2022
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohortDionysios Grigoriadis, Ege Sackey, Katie Riches, et al.Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.American Journal of Medical Genetics. Part A|August 31, 2010
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new casesSahar Mansour, Fiona Connell, Colin Steward, et al.Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.The Journal of Experimental Medicine|July 21, 2017
Human venous valve disease caused by mutations in FOXC2 and GJC2Oliver Lyons, Prakash Saha, Christopher Seet, et al.Nature Cancer|June 24, 2021
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damageXueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, et al.Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.Pageof 4