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Developmental Medicine and Child Neurology|January 23, 2025
Adaptive functioning in children and young adults with monogenic neurodevelopmental disordersEmma K Baker, Miya St John, Ruth Braden, et al.Clinical Dysmorphology|July 6, 2019
Expansion of phenotype of DDX3X syndrome: six new casesBryony Beal, Ian Hayes, Julie McGaughran, et al.Journal of Epidemiology and Community Health|August 26, 2017
Alcohol consumption in a general antenatal population and child neurodevelopment at 2 yearsJane L Halliday, Evelyne Muggli, Sharon Lewis, et al.Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
An integrated framework for functional dissection of variable expressivity in genetic disordersJiawan Sun, Serena Noss, Deepro Banerjee, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.Nature Communications|April 30, 2026
Functional impact of genetic background on variable expressivity in neurodevelopmental disordersJiawan Sun, Serena Noss, Corrine Smolen, et al.European Journal of Human Genetics : EJHG|January 10, 2026
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohortYasmin Bylstra, Weng Khong Lim, Jing Xian Teo, et al.Neurology. Genetics|October 30, 2016
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiencyDavid J Amor, Ashley P L Marsh, Elsdon Storey, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2024
Gene selection for genomic newborn screening: Moving toward consensus?Lilian Downie, Sophie E Bouffler, David J Amor, et al.Fertility and Sterility|February 5, 2022
Reproductive function in men conceived with in vitro fertilization and intracytoplasmic sperm injectionSarah R Catford, Jane Halliday, Sharon Lewis, et al.Pageof 27