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Kevin Colclough
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Journal Articles

Response to Comment on Colclough et al. and Saint-Martin et al. Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes 2022;71:530–537, and Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations. Diabetes 2022;71:578–584

Kevin Colclough, Kashyap Patel
Journal: Diabetes
Diabetes 2022;71(9):e11–e12
DOI: https://doi.org/10.2337/db22-0400
Published: 11 August 2022
View article titled, Response to Comment on Colclough et al. and Saint-Martin et al. Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes 2022;71:530–537, and Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations. Diabetes 2022;71:578–584
Click here to open pdf in another window PDF for Response to Comment on Colclough et al. and Saint-Martin et al. Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes 2022;71:530–537, and Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations. Diabetes 2022;71:578–584
Journal Articles

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Kevin Colclough, Caroline F. Wright, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon, Kashyap A. Patel
Journal: Diabetes
Diabetes 2022;71(5):1128–1136
DOI: https://doi.org/10.2337/db21-0844
Published: 02 February 2022
View article titled, Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
Click here to open pdf in another window PDF for Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
Journal Articles

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young

Kevin Colclough, Sian Ellard, Andrew Hattersley, Kashyap Patel
Journal: Diabetes
Diabetes 2022;71(3):530–537
DOI: https://doi.org/10.2337/db21-0517
Published: 17 November 2021
View article titled, Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young
Click here to open pdf in another window PDF for Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young
Journal Articles

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Hossam Montaser, Kashyap A. Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Anna Näätänen, Vikash Chandra, Korcan Demir, Sezer Acar, Tawfeg Ben-Omran, Kevin Colclough, Jonathan M. Locke, Matthew Wakeling, Maria Lindahl, Andrew T. Hattersley, Jonna Saarimäki-Vire, Timo Otonkoski
Journal: Diabetes
Diabetes 2021;70(4):1006–1018
DOI: https://doi.org/10.2337/db20-1174
Published: 26 January 2021
View article titled, Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress
Click here to open pdf in another window PDF for Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress
Meeting Abstracts

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

HAICHEN ZHANG, KRISTIN A. MALONEY, FABRIZIO BARBETTI, SIRI ATMA W. GREELEY, JARNO L.T. KETTUNEN, JOSÉ P. MIRANDA, UYENLINH L. MIRSHAHI, JANNE MOLNES, RINKI MURPHY, ROCHELLE N. NAYLOR, RUTH E. PAKYZ, LOUIS H. PHILIPSON, SABRINA PRUDENTE, TIINAMAIJA TUOMI, MIRIAM UDLER, KEVIN COLCLOUGH, LINDA JENG, TONI I. POLLIN
Journal: Diabetes
Diabetes 2020;69(Supplement_1):1453-P
DOI: https://doi.org/10.2337/db20-1453-P
Published: 01 June 2020
View article titled, 1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
Meeting Abstracts

2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel

TONI I. POLLIN, MEGAN A. MAYERS, SIRI ATMA W. GREELEY, KRISTIN A. MALONEY, ROCHELLE N. NAYLOR, RUTH E. PAKYZ, KASHYAP A. PATEL, MIRIAM UDLER, HAICHEN ZHANG, KEVIN COLCLOUGH, COURTNEY THAXTON
Journal: Diabetes
Diabetes 2020;69(Supplement_1):2264-PUB
DOI: https://doi.org/10.2337/db20-2264-PUB
Published: 01 June 2020
View article titled, 2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel
Journal Articles

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

Thomas W. Laver, Kevin Colclough, Maggie Shepherd, Kashyap Patel, Jayne A.L. Houghton, Petra Dusatkova, Stepanka Pruhova, Andrew D. Morris, Colin N. Palmer, Mark I. McCarthy, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon
Journal: Diabetes
Diabetes 2016;65(10):3212–3217
DOI: https://doi.org/10.2337/db16-0628
Published: 02 August 2016
View article titled, The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
Click here to open pdf in another window PDF for The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
Includes: Supplementary data
Journal Articles

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Kashyap A. Patel, Richard A. Oram, Sarah E. Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N. Weedon, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2016;65(7):2094–2099
DOI: https://doi.org/10.2337/db15-1690
Published: 05 April 2016
View article titled, Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
Click here to open pdf in another window PDF for Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
Includes: Supplementary data
Journal Articles

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes

Hana Lango Allen, Stefan Johansson, Sian Ellard, Beverley Shields, Jens K. Hertel, Helge Ræder, Kevin Colclough, Anders Molven, Timothy M. Frayling, Pål R. Njølstad, Andrew T. Hattersley, Michael N. Weedon
Journal: Diabetes
Diabetes 2010;59(1):266–271
DOI: https://doi.org/10.2337/db09-0555
Published: 30 September 2009
View article titled, Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes
Click here to open pdf in another window PDF for Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes
Includes: Supplementary data
Journal Articles

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans

Daniela Gašperíková, Nicolas D. Tribble, Juraj Staník, Miroslava Hučková, Nadežda Mišovicová, Martijn van de Bunt, Lucia Valentínová, Beryl A. Barrow, L'ubomir Barák, Radoslav Dobránsky, Eva Bereczková, Jozef Michálek, Kate Wicks, Kevin Colclough, Julian C. Knight, Sian Ellard, Iwar Klimeš, Anna L. Gloyn
Journal: Diabetes
Diabetes 2009;58(8):1929–1935
DOI: https://doi.org/10.2337/db09-0070
Published: 01 May 2009
View article titled, Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
Click here to open pdf in another window PDF for Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
Includes: Supplementary data
Journal Articles

Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations

Ritika R. Kapoor, Jonathan Locke, Kevin Colclough, Jerry Wales, Jennifer J. Conn, Andrew T. Hattersley, Sian Ellard, Khalid Hussain
Journal: Diabetes
Diabetes 2008;57(6):1659–1663
DOI: https://doi.org/10.2337/db07-1657
Published: 01 June 2008
View article titled, Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations
Click here to open pdf in another window PDF for Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations