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List of works by David A Dyment

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

scientific article published on 29 June 2018

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

scientific article published on 24 October 2020

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

scientific article published on 09 May 2017

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

scientific article published on 01 December 2018

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

scientific article published on 01 July 2018

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

scientific article published on 31 March 2020

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

article

Unsolved recognizable patterns of human malformation: Challenges and opportunities

scientific article published on 01 December 2018

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy

scientific article published on 13 August 2019

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