Adam C. Gunning

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Journal: BMC medical genomics

Published: November 17, 2023

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.

Journal: Genome medicine

Published: October 19, 2023

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

Journal: American journal of medical genetics. Part A

Published: October 11, 2023

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.

Journal: Genome medicine

Published: July 25, 2023

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Journal: BMC medical genomics

Published: September 05, 2022

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Journal: Genome medicine

Published: December 15, 2021

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 20, 2021

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Journal: European journal of human genetics : EJHG

Published: October 17, 2020

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

Journal: Genome medicine

Published: July 06, 2020

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

Journal: Parkinsonism & related disorders

Published: May 26, 2020

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026