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Sarah E. Flanagan
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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
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Journal Articles

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

Free
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 articletitled, De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction
Open the PDF for De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction in another window
Meeting Abstracts

2116-P: MAFA S64F Missense Mutation Causes Islet Beta-Cell Aging and Senescence

Free
JEEYEON CHA, EMILY M. WALKER, XIN TONG, MIN GUO, JIN HUA LIU, SOPHIA YU, DONATO IACOVAZZO, FRANCK MAUVAIS-JARVIS, SARAH E. FLANAGAN, MARTA KORBONITS, JOHN M. STAFFORD, ROLAND STEIN
Journal: Diabetes
Diabetes 2020;69(Supplement_1):2116-P
https://doi.org/10.2337/db20-2116-P
Published: 01 June 2020
View articletitled, 2116-P: MAFA S64F Missense Mutation Causes Islet Beta-Cell Aging and Senescence
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
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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

Free
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 articletitled, Erratum. Recessively Inherited LRBA 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

Free
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 articletitled, Recessively Inherited LRBA 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

Free
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 articletitled, Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
Open the PDF for Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts in another window
Includes: Supplementary data
Journal Articles

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Free
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 articletitled, Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation
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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
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Includes: Supplementary data
Journal Articles

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

Free
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 articletitled, GATA4 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

Open Access
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 articletitled, GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
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Includes: Supplementary data
Journal Articles

Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the KATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes

Open Access
Roope Männikkö, Sarah E. Flanagan, Xiuli Sim, David Segal, Khalid Hussain, Sian Ellard, Andrew T. Hattersley, Frances M. Ashcroft
Journal: Diabetes
Diabetes 2011;60(6):1813–1822
https://doi.org/10.2337/db10-1583
Published: 21 May 2011
View articletitled, Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the KATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes
Open the PDF for Mutations of the Same Conserved Glutamate Residue in NBD2 of the Sulfonylurea Receptor 1 Subunit of the KATP Channel Can Result in Either Hyperinsulinism or Neonatal Diabetes in another window
Includes: Supplementary data
Journal Articles

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

Open Access
Philippa D. Powell, Christine Bellanné-Chantelot, Sarah E. Flanagan, Sian Ellard, Raoul Rooman, Khalid Hussain, Mars Skae, Peter Clayton, Pascale de Lonlay, Mark J. Dunne, Karen E. Cosgrove
Journal: Diabetes
Diabetes 2011;60(4):1223–1228
https://doi.org/10.2337/db10-1443
Published: 22 March 2011
View articletitled, In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy
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Journal Articles

Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood

Free
Emma L. Edghill, Sarah E. Flanagan, Ann-Marie Patch, Chris Boustred, Andrew Parrish, Beverley Shields, Maggie H. Shepherd, Khalid Hussain, Ritika R. Kapoor, Maciej Malecki, Michael J. MacDonald, Julie Støy, Donald F. Steiner, Louis H. Philipson, Graeme I. Bell, the Neonatal Diabetes International Collaborative Group, Andrew T. Hattersley, Sian Ellard
Journal: Diabetes
Diabetes 2008;57(4):1034–1042
https://doi.org/10.2337/db07-1405
Published: 01 April 2008
View articletitled, Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood
Open the PDF for Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood in another window
Journal Articles

An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism

Free
Khalid Hussain, Sarah E. Flanagan, Virpi V. Smith, Michael Ashworth, Michael Day, Agostino Pierro, Sian Ellard
Journal: Diabetes
Diabetes 2008;57(1):259–263
https://doi.org/10.2337/db07-0998
Published: 01 January 2008
View articletitled, An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism
Open the PDF for An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism in another window
Journal Articles

Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy

Free
Julian P.H. Shield, Sarah E. Flanagan, Deborah J. Mackay, Lorna W. Harries, Peter Proks, Christophe Girard, Frances M. Ashcroft, I. Karen Temple, Sian Ellard
Journal: Diabetes
Diabetes 2008;57(1):255–258
https://doi.org/10.2337/db07-0999
Published: 01 January 2008
View articletitled, Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy
Open the PDF for Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy in another window
Journal Articles

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Free
Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard, Andrew T. Hattersley
Journal: Diabetes
Diabetes 2007;56(7):1930–1937
https://doi.org/10.2337/db07-0043
Published: 01 July 2007
View articletitled, Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood
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Journal Articles

HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months

Free
Emma L. Edghill, Rachel J. Dix, Sarah E. Flanagan, Polly J. Bingley, Andrew T. Hattersley, Sian Ellard, Kathleen M. Gillespie
Journal: Diabetes
Diabetes 2006;55(6):1895–1898
https://doi.org/10.2337/db06-0094
Published: 01 June 2006
View articletitled, HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months
Open the PDF for HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months in another window
Includes: Supplementary data