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Elisa De Franco
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Journal Articles

Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes

Amber M. Luckett, Gareth Hawkes, Harry D. Green, Elisa De Franco, William A. Hagopian, Bart O. Roep, Michael N. Weedon, Richard A. Oram, Matthew B. Johnson, EXE-T1D consortium, Rebecca A Dobbs, Clara Domingo-Vila, Kathleen M Gillespie, Andrew T Hattersley, Michelle Hudson, Timothy J McDonald, Noel G Morgan, Kathryn Murrall, Sarah J Richardson, Megan E Smithmyer, Cate Speake, Timothy IM Tree
Journal: Diabetes
Diabetes 2025;74(2):243–248
https://doi.org/10.2337/db24-0485
Published: 12 November 2024
View article titled, Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes
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Journal Articles

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

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 article titled, The Role of <em>ONECUT1</em> Variants in Monogenic and Type 2 Diabetes Mellitus
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Journal Articles

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Elisa De Franco, Richard Caswell, Matthew B. Johnson, Matthew N. Wakeling, Amnon Zung, Vũ Chí Dũng, Cấn Thị Bích Ngọc, Rajiv Goonetilleke, Maritza Vivanco Jury, Mohammed El-Khateeb, Sian Ellard, Sarah E. Flanagan, David Ron, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2020;69(3):477–483
https://doi.org/10.2337/db19-1029
Published: 27 December 2020
View article titled, De Novo Mutations in <em>EIF2B1</em> Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction
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Meeting Abstracts

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

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

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

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 article titled, Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
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Includes: Supplementary data
Journal Articles

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66: 2316–2322

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
Journal: Diabetes
Diabetes 2018;67(3):532
https://doi.org/10.2337/db18-er03b
Published: 05 January 2018
View article titled, Erratum. Recessively Inherited <em>LRBA</em> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66: 2316–2322
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Journal Articles

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Matthew B. Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Ayla Güven, Sian Ellard, Andrew T. Hattersley, Sarah E. Flanagan
Journal: Diabetes
Diabetes 2017;66(8):2316–2322
https://doi.org/10.2337/db17-0040
Published: 04 May 2017
View article titled, Recessively Inherited <em>LRBA</em> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
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Includes: Supplementary data
Journal Articles

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2017;66(7):2044–2053
https://doi.org/10.2337/db16-1296
Published: 03 May 2017
View article titled, Dominant ER Stress–Inducing <em>WFS1</em> Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
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Includes: Supplementary data
Journal Articles

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Jayne A.L. Houghton, Galvin H. Swift, Charles Shaw-Smith, Sarah E. Flanagan, Elisa de Franco, Richard Caswell, Khalid Hussain, Sarar Mohamed, Majedah Abdulrasoul, Andrew T. Hattersley, Raymond J. MacDonald, Sian Ellard
Journal: Diabetes
Diabetes 2016;65(9):2810–2815
https://doi.org/10.2337/db15-1666
Published: 09 June 2016
View article titled, Isolated Pancreatic Aplasia Due to a Hypomorphic <em>PTF1A</em> Mutation
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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
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
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Includes: Supplementary data
Journal Articles

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Charles Shaw-Smith, Elisa De Franco, Hana Lango Allen, Marta Batlle, Sarah E. Flanagan, Maciej Borowiec, Craig E. Taplin, Janiëlle van Alfen-van der Velden, Jaime Cruz-Rojo, Guiomar Perez de Nanclares, Zosia Miedzybrodzka, Grazyna Deja, Iwona Wlodarska, Wojciech Mlynarski, Jorge Ferrer, Andrew T. Hattersley, Sian Ellard
Journal: Diabetes
Diabetes 2014;63(8):2888–2894
https://doi.org/10.2337/db14-0061
Published: 17 July 2014
View article titled, <em>GATA4</em> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
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Journal Articles

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Elisa De Franco, Charles Shaw-Smith, Sarah E. Flanagan, Maggie H. Shepherd, International NDM Consortium, Andrew T. Hattersley, Sian Ellard
Journal: Diabetes
Diabetes 2013;62(3):993–997
https://doi.org/10.2337/db12-0885
Published: 14 February 2013
View article titled, <em>GATA6</em> Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
Open the PDF for <em>GATA6</em> Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency in another window
Includes: Supplementary data