Publications by authors named "Kashyap A Patel"

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Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Aparajita Sriram, Matthew N Wakeling, Andrew T Hattersley, Michael N Weedon, Kevin Colclough, Kashyap A Patel

Diabetes· November 2025

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Population prevalence, penetrance, and mortality for genetically confirmed MODY.
Luke N Sharp, Kevin Colclough, Jacques Murray Leech, Stuart J Cannon, Thomas W Laver, Kashyap A Patel

J Clin Endocrinol Metab· November 2025

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The influence of fetal sex on maternal blood pressure in pregnancy.
Caitlin S Decina, Robin N Beaumont, Julius Juodakis, Nicole M Warrington, Kashyap A Patel

BMC Med· November 2025

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Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.
Samar S Hassan, Salwa A Musa, Elisa De Franco, Rebbeca Myers, Racheal Van Heugten, Kashyap A Patel

J Pediatr Endocrinol Metab· November 2025

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MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Luke N Sharp, Uyenlinh L Mirshahi, Kevin Colclough, Timothy S Hall, Jeremy S Haley, Kashyap A Patel

Diabetes· November 2025

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Updating a Clinical Prediction Model for Identifying Monogenic Diabetes to Include Both Clinical Features and Biomarkers.
Julieanne Knupp, Pedro Cardoso, Katherine G Young, Timothy J McDonald, Kashyap A Patel

Diabetes Care· October 2025

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Non-autoimmune, insulin-deficient diabetes in children and young adults in Africa: evidence from the Young-Onset Diabetes in sub-Saharan Africa (YODA) cross-sectional study.
Jean Claude Katte, Steven Squires, Mesmin Y Dehayem, Priscilla A Balungi, Carolyn J Padoa, Kashyap A Patel

Lancet Diabetes Endocrinol· September 2025

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Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Jacques Murray Leech, Robin N Beaumont, Ankit M Arni, V Kartik Chundru, Luke N Sharp, Kashyap A Patel

Nat Metab· September 2025

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Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.
Thomas W Laver, Kashyap A Patel

Eur J Endocrinol· August 2025

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Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.
Courtney E West, Uyenlinh L Mirshahi, Katherine S Ruth, Luke N Sharp, Ankit M Arni, Kashyap A Patel

JAMA Netw Open· June 2025

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A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.
Russell Donis, Kashyap A Patel, Matthew N Wakeling, Matthew B Johnson, Masha M Amoli

Diabet Med· March 2025

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Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels.
Gareth Hawkes, Kartik Chundru, Leigh Jackson, Kashyap A Patel, Anna Murray

Nat Genet· March 2025

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Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Paul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, Ankit Arni, Elena D Aflorei, Kashyap A Patel

Eur J Endocrinol· March 2025

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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Katherine A Kentistou, Brandon E M Lim, Lena R Kaisinger, Valgerdur Steinthorsdottir, Luke N Sharp, Kashyap A Patel

Nat Commun· January 2025

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The influence of fetal sex on maternal blood pressure in pregnancy.
Caitlin S Decina, Robin N Beaumont, Julius Juodakis, Nicole M Warrington, Kashyap A Patel

medRxiv· January 2025

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Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches.
Ankit M Arni, Diane P Fraser, Seth A Sharp, Richard A Oram, Matthew B Johnson, Kashyap A Patel

Sci Rep· December 2024

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Widening the phenotypic spectrum caused by pathogenic variants in individuals with neonatal diabetes.
Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Evgenia Globa, Matthew N Wakeling, Kashyap Amratlal Patel

BMJ Open Diabetes Res Care· November 2024

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Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.
Caroline F Wright, Luke N Sharp, Leigh Jackson, Anna Murray, James S Ware, Kashyap A Patel

Nat Genet· September 2024

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Precision treatment of beta-cell monogenic diabetes: a systematic review.
Rochelle N Naylor, Kashyap A Patel, Jarno L T Kettunen, Jonna M E Männistö, Julie Støy

Commun Med (Lond)· July 2024

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Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young.
Pedro Cardoso, Timothy J McDonald, Kashyap A Patel, Ewan R Pearson, Andrew T Hattersley

BMC Med Res Methodol· June 2024

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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Katherine A Kentistou, Brandon E M Lim, Lena R Kaisinger, Valgerdur Steinthorsdottir, Luke N Sharp, Kashyap A Patel

medRxiv· April 2024

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Author Correction: Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Robert K Semple, Kashyap A Patel, Sungyoung Auh, , Rebecca J Brown

Commun Med (Lond)· March 2024

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Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Kashyap A Patel

Hum Mol Genet· February 2024

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Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Robert K Semple, Kashyap A Patel, Sungyoung Auh, , Rebecca J Brown

Commun Med (Lond)· October 2023

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Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Deirdre K Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken, Jamie L Benham, Kashyap Amratlal Patel

Nat Med· October 2023

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