Adam C Gunning

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

Authors:

Olivia J Rickman Claire G Salter Adam C Gunning James Fasham Nikol Voutsina Joseph S Leslie Lucy McGavin Harold E Cross Jennifer E Posey Zeynep Coban Akdemir Shalini N Jhangiani James R Lupski Emma L Baple Andrew H Crosby

Parkinsonism Relat Disord 2021 Jan 11;82:84-86. Epub 2020 Nov 11.

RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, EX2 5DW, UK. Electronic address:

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January 2021

Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

Authors:

Adam C Gunning Verity Fryer James Fasham Andrew H Crosby Sian Ellard Emma L Baple Caroline F Wright

J Med Genet 2020 Aug 25. Epub 2020 Aug 25.

College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK

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August 2020

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Am J Hum Genet 2020 02 30;106(2):272-279. Epub 2020 Jan 30.

Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter EX2 5DW, UK. Electronic address:

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February 2020

Using Structural Analysis to Assess the Impact of Missense Variants in MEN1.

Authors:

Richard C Caswell Martina M Owens Adam C Gunning Sian Ellard Caroline F Wright

J Endocr Soc 2019 Dec 27;3(12):2258-2275. Epub 2019 Sep 27.

Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.

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December 2019

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Prenat Diagn 2018 01 3;38(1):33-43. Epub 2017 Dec 3.

Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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January 2018

X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.

Authors:

Chiara Chianese Adam C Gunning Claudia Giachini Fabrice Daguin Giancarlo Balercia Elisabet Ars Deborah Lo Giacco Eduard Ruiz-Castañé Gianni Forti Csilla Krausz

PLoS One 2014 10;9(6):e97746. Epub 2014 Jun 10.

Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy; Andrology Service, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.

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October 2015

Publications by authors named "Adam C Gunning"

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

Authors:

Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

Authors:

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Authors:

Using Structural Analysis to Assess the Impact of Missense Variants in MEN1.

Authors:

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Authors:

X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.

Authors: