Andrew Parrish
Exeter, ENG EX25DW, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
Journal: American journal of human genetics
Published: July 28, 2025
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.
Journal: European journal of human genetics : EJHG
Published: November 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Journal: Journal of medical genetics
Published: July 09, 2024
Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting.
Journal: The Lancet. Neurology
Published: September 26, 2023
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Journal: American journal of human genetics
Published: September 02, 2019
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Journal: Prenatal diagnosis
Published: September 28, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Journal: American journal of human genetics
Published: May 26, 2017
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Journal: Journal of the American Society of Nephrology : JASN
Published: December 14, 2016
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
Journal: JIMD reports
Published: January 01, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026