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European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.European Journal of Human Genetics : EJHG|December 13, 2019
Exome sequencing in infants with congenital hearing impairment: a population-based cohort studyLilian Downie, Jane Halliday, Rachel Burt, et al.Genetics in Medicine Open|December 9, 2025
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort studyJacqui McCoy, Cecilia Pynaker, Sharon Lewis, et al.European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.Nature Communications|September 4, 2019
Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthoodBoris Novakovic, Sharon Lewis, Jane Halliday, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutationsChloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.Neurology. Genetics|April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossAshley P L Marsh, Vesna Lukic, Kate Pope, et al.Pageof 27