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Kashyap A. Patel
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Meeting Abstracts

1364-P: C-Peptide–Based Classification of Late-Onset Diabetes Reveals Treatment Optimization Opportunities in 30% of Insulin-Treated Patients

Free
KASHYAP A. PATEL, JIANG LI, RICHARD STAHL, ALICIA GOLDEN, JEREMY S. HALEY, VENKATESH AVULA, ANGUS JONES, RICHARD A. ORAM, DAVID J. CAREY, UYENLINH L. MIRSHAHI
Journal: Diabetes
Diabetes 2024;74(Supplement_1):1364-P
https://doi.org/10.2337/db25-1364-P
Published: 20 June 2025
View articletitled, 1364-P: C-Peptide–Based Classification of Late-Onset Diabetes Reveals Treatment Optimization Opportunities in 30% of Insulin-Treated Patients
Meeting Abstracts

277-OR: Whole-Genome Sequencing Identifies a Rare Noncoding Variant Proximal to METRN Associated with HbA1c Levels

Free
GARETH HAWKES, KASHYAP A. PATEL, INÊS BARROSO, TIMOTHY M. FRAYLING, ALISA MANNING, MICHAEL N. WEEDON
Journal: Diabetes
Diabetes 2024;73(Supplement_1):277-OR
https://doi.org/10.2337/db24-277-OR
Published: 14 June 2024
View articletitled, 277-OR: Whole-Genome Sequencing Identifies a Rare Noncoding Variant Proximal to METRN Associated with HbA1c Levels
Journal Articles

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Free
James Russ-Silsby, Kashyap A. Patel, Thomas W. Laver, Gareth Hawkes, Matthew B. Johnson, Matthew N. Wakeling, Prashant P. Patil, Andrew T. Hattersley, Sarah E. Flanagan, Michael N. Weedon, Elisa De Franco
Journal: Diabetes
Diabetes 2023;72(11):1729–1734
https://doi.org/10.2337/db23-0498
Published: 28 August 2023
View articletitled, The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus
Open the PDF for The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus in another window
Journal Articles

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

Free
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
https://doi.org/10.2337/db21-0844
Published: 02 February 2022
View articletitled, Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
Open the PDF for Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY in another window
Journal Articles

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

Free
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
https://doi.org/10.2337/db20-1174
Published: 26 January 2021
View articletitled, Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress
Open the PDF for Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress in another window
Meeting Abstracts

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

Free
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
https://doi.org/10.2337/db20-2264-PUB
Published: 01 June 2020
View articletitled, 2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel
Meeting Abstracts

360-OR: A Novel Genetic Syndrome of Early-Onset Diabetes, Microcephaly, and Epilepsy Due to Homozygous YIPF5 Mutations

Free
MARIA LYTRIVI, ELISA DE FRANCO, KASHYAP A. PATEL, MARIANA IGOILLO ESTEVE, CRISTINA COSENTINO, MATTHEW N. WAKELING, BELMA HALILOGLU, MELEK YILDIZ, TUSHAR GODBOLE, ANDREW T. HATTERSLEY, MIRIAM CNOP
Journal: Diabetes
Diabetes 2019;68(Supplement_1):360-OR
https://doi.org/10.2337/db19-360-OR
Published: 01 June 2019
View articletitled, 360-OR: A Novel Genetic Syndrome of Early-Onset Diabetes, Microcephaly, and Epilepsy Due to Homozygous YIPF5 Mutations
Meeting Abstracts

1683-P: Analysis of Type 1 Diabetes Genetic Risk Score Shows 1 in 8 People with Clinically Diagnosed Adult-Onset T1D Are Misdiagnosed, and Presenting Features at Diagnosis Do Not Identify Those Misdiagnosed

Free
KASHYAP A. PATEL, NICHOLAS THOMAS, MICHAEL N. WEEDON, HELEN C. WALKEY, AKAAL KAUR, ALISTAIR J. WILLIAMS, SHIVANI MISRA, NICK OLIVER, DESMOND G. JOHNSTON, ESQ., ANDREW T. HATTERSLEY, ADDRESS-2 CONSORTIUM
Journal: Diabetes
Diabetes 2019;68(Supplement_1):1683-P
https://doi.org/10.2337/db19-1683-P
Published: 01 June 2019
View articletitled, 1683-P: Analysis of Type 1 Diabetes Genetic Risk Score Shows 1 in 8 People with Clinically Diagnosed Adult-Onset T1D Are Misdiagnosed, and Presenting Features at Diagnosis Do Not Identify Those Misdiagnosed
Journal Articles

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

Free
Matthew B. Johnson, Elisa De Franco, Siri Atma W. Greeley, Lisa R. Letourneau, Kathleen M. Gillespie, Matthew N. Wakeling, Sian Ellard, Sarah E. Flanagan, Kashyap A. Patel, Andrew T. Hattersley, International DS-PNDM Consortium, Miguel Angel De los Santos, Carlos Manuel Del Águila, Luis Rómulo de Lama, Oswaldo Nuñez, Eliana Manuela Chávez, Oscar Antonio Espinoza, Paola Marianella Pinto, Martha Rosario Calagua, Asma Deeb, Stephen M.P. O’Riordan, Semra Çetinkaya, Rebeka Ribicic, Gordana Stipancic, Christine Rodda, Leonard C. Harrison, Andrea Steck, Paul G. Voorhoeve, Mouza AlYahyaei, Aisha AlSinani, Hanan AlAzkawi, Mariyam AlBadi
Journal: Diabetes
Diabetes 2019;68(7):1528–1535
https://doi.org/10.2337/db19-0045
Published: 08 April 2019
View articletitled, Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
Open the PDF for Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated in another window
Includes: Supplementary data
Journal Articles

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

Free
Jonathan M. Locke, Cécile Saint-Martin, Thomas W. Laver, Kashyap A. Patel, Andrew R. Wood, Seth A. Sharp, Sian Ellard, Christine Bellanné-Chantelot, Andrew T. Hattersley, Lorna W. Harries, Michael N. Weedon
Journal: Diabetes
Diabetes 2018;67(9):1903–1907
https://doi.org/10.2337/db18-0133
Published: 12 June 2018
View articletitled, The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY
Open the PDF for The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY in another window
Journal Articles

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

Free
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
https://doi.org/10.2337/db15-1690
Published: 05 April 2016
View articletitled, Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes
Open the PDF for Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes in another window
Includes: Supplementary data