Elisa De Franco

Elisa De Franco

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Elisa De Franco

Elisa De Franco

Publications by authors named "Elisa De Franco"

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A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Authors:
Elizabeth Oakley-Hannibal Neeti Ghali Francis Michael Pope Elisa De Franco Sian Ellard Fleur S van Dijk Angela F Brady

Clin Dysmorphol 2020 Jan;29(1):69-72

Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetic Service, North West Health Care University NHS Trust, Harrow, Middlesex.

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http://dx.doi.org/10.1097/MCD.0000000000000304DOI Listing
January 2020

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Authors:
Nina Mann Franziska Kause Erik K Henze Anant Gharpure Shirlee Shril Dervla M Connaughton Makiko Nakayama Verena Klämbt Amar J Majmundar Chen-Han W Wu Caroline M Kolvenbach Rufeng Dai Jing Chen Amelie T van der Ven Hadas Ityel Madeleine J Tooley Jameela A Kari Lucy Bownass Sherif El Desoky Elisa De Franco Mohamed Shalaby Velibor Tasic Stuart B Bauer Richard S Lee Jonathan M Beckel Weiqun Yu Shrikant M Mane Richard P Lifton Heiko Reutter Sian Ellard Ryan E Hibbs Toshimitsu Kawate Friedhelm Hildebrandt

Am J Hum Genet 2019 Dec 7;105(6):1286-1293. Epub 2019 Nov 7.

Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.004DOI Listing
December 2019

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Authors:
Carsten Rautengarten Oliver W Quarrell Karen Stals Richard Caswell Elisa De Franco Emma Baple Nadia Burgess Roobin Jokhi Joshua L Heazlewood Amaka C Offiah Berit Ebert Sian Ellard

Hum Mol Genet 2019 Aug 19. Epub 2019 Aug 19.

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddz200DOI Listing
August 2019

From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes.

Authors:
Elisa De Franco

J Mol Biol 2019 Aug 31. Epub 2019 Aug 31.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, UK; Institute of Biomedical and Clinical Science, Level 3, RILD Building, Barrack Road, EX2 5DW Exeter, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2019.08.016DOI Listing
August 2019

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

Authors:
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

Diabetes 2019 Jul 8;68(7):1528-1535. Epub 2019 Apr 8.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db19-0045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609990PMC
July 2019

Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes.

Authors:
Samaneh Noroozi Asl Rahim Vakili Saba Vakili Fahimeh Soheilipour Mahin Hashemipour Sara Ghahramani Elisa De Franco Hanieh Yaghootkar

J Pediatr Endocrinol Metab 2019 Jun;32(6):607-613

Genetics of Complex Traits, University of Exeter Medical School, Medical Research - Level 3, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1515/jpem-2018-0434DOI Listing
June 2019

Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report.

Authors:
Markus Lundgren Elisa De Franco Henrik Arnell Björn Fischler

Clin Case Rep 2019 Jun 1;7(6):1133-1138. Epub 2019 May 1.

Department of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm Sweden.

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http://dx.doi.org/10.1002/ccr3.2168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552956PMC
June 2019

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

Authors:
Elisa De Franco Rachel A Watson Wolfgang J Weninger Chi C Wong Sarah E Flanagan Richard Caswell Angela Green Catherine Tudor Christopher J Lelliott Stefan H Geyer Barbara Maurer-Gesek Lukas F Reissig Hana Lango Allen Almuth Caliebe Reiner Siebert Paul Martin Holterhus Asma Deeb Fabrice Prin Robert Hilbrands Harry Heimberg Sian Ellard Andrew T Hattersley Inês Barroso

Am J Hum Genet 2019 May 18;104(5):985-989. Epub 2019 Apr 18.

Wellcome Sanger Institute, CB10 1SA Hinxton, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506862PMC
May 2019

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.

Authors:
Anela Novak Pamela Bowman Ivana Kraljevic Marija Tripolski Jayne A L Houghton Elisa De Franco Maggie H Shepherd Veselin Skrabic Kashyap A Patel

Can J Diabetes 2019 May 11. Epub 2019 May 11.

The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jcjd.2019.05.002DOI Listing
May 2019

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Authors:
Matthew Neil Wakeling Thomas William Laver Caroline Fiona Wright Elisa De Franco Karen Lucy Stals Ann-Marie Patch Andrew Tym Hattersley Sarah Elizabeth Flanagan Sian Ellard

Genet Med 2019 04 3;21(4):982-986. Epub 2018 Oct 3.

Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.

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http://www.nature.com/articles/s41436-018-0281-4
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http://dx.doi.org/10.1038/s41436-018-0281-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330071PMC
April 2019

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Authors:
Matthew Neil Wakeling Thomas William Laver Caroline Fiona Wright Elisa De Franco Karen Lucy Stals Ann-Marie Patch Andrew Tym Hattersley Sarah Elizabeth Flanagan Sian Ellard

Genet Med 2019 03;21(3):766

Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.

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http://www.nature.com/articles/s41436-018-0357-1
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http://dx.doi.org/10.1038/s41436-018-0357-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752275PMC
March 2019

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Authors:
Zeynep Şıklar Elisa de Franco Matthew B Johnson Sarah E Flanagan Sian Ellard Serdar Ceylaner Kaan Boztuğ Figen Doğu Aydan İkincioğulları Zarife Kuloğlu Aydan Kansu Merih Berberoğlu

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Authors:
Huseyin Demirbilek Nihal Hatipoglu Ulku Gul Zeynep U Tatli Sian Ellard Sarah E Flanagan Elisa De Franco Selim Kurtoglu

Pediatr Diabetes 2018 08 27;19(5):898-904. Epub 2018 Mar 27.

Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

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http://dx.doi.org/10.1111/pedi.12669DOI Listing
August 2018

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Authors:
Olcay Evliyaoğlu Oya Ercan Emel Ataoğlu Ümit Zübarioğlu Bahar Özcabı Aydilek Dağdeviren Hande Erdoğan Elisa De Franco Sian Ellard

J Clin Res Pediatr Endocrinol 2018 06 25;10(2):168-174. Epub 2017 Sep 25.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom

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http://dx.doi.org/10.4274/jcrpe.5162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985387PMC
June 2018

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Authors:
Evangelia Gole Stavroula Oikonomou Sian Ellard Elisa De Franco Kyriaki Karavanaki

J Clin Res Pediatr Endocrinol 2018 06 25;10(2):175-178. Epub 2017 Sep 25.

University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece

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http://dx.doi.org/10.4274/jcrpe.5166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388PMC
June 2018

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Authors:
Abdelhadi M Habeb Sarah E Flanagan Mohamed A Zulali Mohamed A Abdullah Renata Pomahačová Veselin Boyadzhiev Lesby E Colindres Guillermo V Godoy Thiruvengadam Vasanthi Ramlah Al Saif Aria Setoodeh Amirreza Haghighi Alireza Haghighi Yomna Shaalan Andrew T Hattersley Sian Ellard Elisa De Franco

Diabetologia 2018 05 15;61(5):1027-1036. Epub 2018 Feb 15.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1007/s00125-018-4554-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449001PMC
May 2018

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Authors:
Matthew B Johnson Kashyap A Patel Elisa De Franco Jayne A L Houghton Timothy J McDonald Sian Ellard Sarah E Flanagan Andrew T Hattersley

Diabetologia 2018 04 7;61(4):862-869. Epub 2018 Feb 7.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5AD, UK.

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http://link.springer.com/10.1007/s00125-018-4551-0
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http://dx.doi.org/10.1007/s00125-018-4551-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448971PMC
April 2018

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

Authors:
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

Diabetes 2018 03 5;67(3):532. Epub 2018 Jan 5.

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http://dx.doi.org/10.2337/db18-er03bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828457PMC
March 2018

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.

Authors:
Melek Yildiz Teoman Akcay Banu Aydin Abdurrahman Akgun Beyza Belde Dogan Elisa De Franco Sian Ellard Hasan Onal

J Pediatr Endocrinol Metab 2018 Mar;31(3):345-348

Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1515/jpem-2017-0325DOI Listing
March 2018

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

Authors:
Christina Reinauer Joachim Rosenbauer Christina Bächle Christian Herder Michael Roden Sian Ellard Elisa De Franco Beate Karges Reinhard W Holl Jürgen Enczmann Thomas Meissner

Genes (Basel) 2018 01 3;9(1). Epub 2018 Jan 3.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes9010013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793166PMC
January 2018

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Authors:
Aisha Al Senani Nishath Hamza Hanan Al Azkawi Manal Al Kharusi Nashat Al Sukaiti Maryam Al Badi Moza Al Yahyai Matthew Johnson Elisa De Franco Sarah Flanagan Andrew Hattersley Sian Ellard Waad-Allah Mula-Abed

J Pediatr Endocrinol Metab 2018 Jan;31(2):195-204

National Genetic Center, Royal Hospital, Ministry of Health, Muscat, Oman.

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http://dx.doi.org/10.1515/jpem-2017-0284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6853791PMC
January 2018

An Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

Authors:
Sarah E Flanagan Vũ Chí Dũng Jayne A L Houghton Elisa De Franco Can Thi Bich Ngoc Annet Damhuis Frances M Ashcroft Lorna W Harries Sian Ellard

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):260-264. Epub 2017 Jun 30.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom.

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http://dx.doi.org/10.4274/jcrpe.4624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808PMC
September 2017

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.

Authors:
Monica Gabbay Sian Ellard Elisa De Franco Regina S Moisés

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):274-277. Epub 2017 Jun 30.

Federal University of São Paulo, Paulista School of Medicine, Division of Endocrinology, São Paulo, Brazil.

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http://cms.galenos.com.tr/Uploads/Article_1897/JCRPE-9-274.p
Publisher Site
http://dx.doi.org/10.4274/jcrpe.4494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596810PMC
September 2017

Recessively Inherited Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Authors:
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

Diabetes 2017 08 4;66(8):2316-2322. Epub 2017 May 4.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db17-0040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524180PMC
August 2017

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

Authors:
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

Diabetes 2017 07 3;66(7):2044-2053. Epub 2017 May 3.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db16-1296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482085PMC
July 2017

Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.

Authors:
Vandana Jain Amit Satapathy Jaivinder Yadav Rajni Sharma Venkatesan Radha Viswanathan Mohan Elisa De Franco Sian Ellard

Indian Pediatr 2017 Jun;54(6):467-471

Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi, and *Madras Diabetes Research Foundation, Chennai, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Correspondence to: Prof. Vandana Jain, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, Delhi-110 029, India.

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http://dx.doi.org/10.1007/s13312-017-1049-7DOI Listing
June 2017

The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype.

Authors:
Christina Reinauer Joachim Rosenbauer Christina Bächle Christian Herder Michael Roden Sian Ellard Elisa De Franco Beate Karges Reinhard W Holl Jürgen Enczmann Thomas Meissner

Genes (Basel) 2017 May 19;8(5). Epub 2017 May 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes8050146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448020PMC
May 2017

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Authors:
Daphne Yau Elisa De Franco Sarah E Flanagan Sian Ellard Miriam Blumenkrantz John J Mitchell

Diagn Pathol 2017 Jan 3;12(1). Epub 2017 Jan 3.

Division of Pediatric Endocrinology Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Decarie, Montreal, H4A 3J1, Quebec, Canada.

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http://dx.doi.org/10.1186/s13000-016-0592-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893PMC
January 2017

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

Authors:
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

Diabetes 2016 09 9;65(9):2810-5. Epub 2016 Jun 9.

Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db15-1666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001172PMC
September 2016

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Authors:
Paul Dimitri Elisa De Franco Abdelhadi M Habeb Fatih Gurbuz Khairya Moussa Doris Taha Jerry K H Wales Jacob Hogue Anne Slavotinek Ambika Shetty Meena Balasubramanian

Am J Med Genet A 2016 07 5;170(7):1918-23. Epub 2016 May 5.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37680DOI Listing
July 2016

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.

Authors:
Karolina Antosik Piotr Gnys Elisa De Franco Maciej Borowiec Malgorzata Mysliwiec Sian Ellard Wojciech Mlynarski

Acta Diabetol 2016 Apr 30;53(2):337-8. Epub 2015 Jun 30.

Department of Paediatrics, Oncology, Haematology and Diabetology, Medical University of Lodz, 36/50 Sporna Str., 91-738, Lodz, Poland.

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http://link.springer.com/10.1007/s00592-015-0786-0
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http://dx.doi.org/10.1007/s00592-015-0786-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826403PMC
April 2016

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

Authors:
Elisa De Franco Sarah E Flanagan Jayne A L Houghton Hana Lango Allen Deborah J G Mackay I Karen Temple Sian Ellard Andrew T Hattersley

Lancet 2015 Sep 28;386(9997):957-63. Epub 2015 Jul 28.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01406736156009
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http://dx.doi.org/10.1016/S0140-6736(15)60098-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772451PMC
September 2015

Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

Authors:
Elisa De Franco Sian Ellard

Pediatr Clin North Am 2015 Aug 11;62(4):1037-53. Epub 2015 May 11.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2015.04.012DOI Listing
August 2015

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Authors:
Anne Raimondo Ali J Chakera Soren K Thomsen Kevin Colclough Amy Barrett Elisa De Franco Alisson Chatelas Huseyin Demirbilek Teoman Akcay Hussein Alawneh Sarah E Flanagan Martijn Van De Bunt Andrew T Hattersley Anna L Gloyn Sian Ellard

Hum Mol Genet 2014 Dec 11;23(24):6432-40. Epub 2014 Jul 11.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddu360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240195PMC
December 2014

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.

Authors:
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

Diabetes 2014 Aug 2;63(8):2888-94. Epub 2014 Apr 2.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db14-0061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850908PMC
August 2014

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Authors:
Sarah E Flanagan Emma Haapaniemi Mark A Russell Richard Caswell Hana Lango Allen Elisa De Franco Timothy J McDonald Hanna Rajala Anita Ramelius John Barton Kaarina Heiskanen Tarja Heiskanen-Kosma Merja Kajosaari Nuala P Murphy Tatjana Milenkovic Mikko Seppänen Åke Lernmark Satu Mustjoki Timo Otonkoski Juha Kere Noel G Morgan Sian Ellard Andrew T Hattersley

Nat Genet 2014 Aug 20;46(8):812-814. Epub 2014 Jul 20.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1038/ng.3040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129488PMC
August 2014

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Authors:
Michael N Weedon Ines Cebola Ann-Marie Patch Sarah E Flanagan Elisa De Franco Richard Caswell Santiago A Rodríguez-Seguí Charles Shaw-Smith Candy H-H Cho Hana Lango Allen Jayne Al Houghton Christian L Roth Rongrong Chen Khalid Hussain Phil Marsh Ludovic Vallier Anna Murray Sian Ellard Jorge Ferrer Andrew T Hattersley

Nat Genet 2014 Jan 10;46(1):61-64. Epub 2013 Nov 10.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1038/ng.2826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131753PMC
January 2014

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Authors:
Sarah E Flanagan Elisa De Franco Hana Lango Allen Michele Zerah Majedah M Abdul-Rasoul Julie A Edge Helen Stewart Elham Alamiri Khalid Hussain Sam Wallis Liat de Vries Oscar Rubio-Cabezas Jayne A L Houghton Emma L Edghill Ann-Marie Patch Sian Ellard Andrew T Hattersley

Cell Metab 2014 Jan;19(1):146-54

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2013.11.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887257PMC
January 2014

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.

Authors:
Elisa De Franco Charles Shaw-Smith Sarah E Flanagan Maggie H Shepherd Andrew T Hattersley Sian Ellard

Diabetes 2013 Mar 6;62(3):993-7. Epub 2012 Dec 6.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://diabetes.diabetesjournals.org/cgi/doi/10.2337/db12-08
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http://dx.doi.org/10.2337/db12-0885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581234PMC
March 2013

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Authors:
Hana Lango Allen Sarah E Flanagan Charles Shaw-Smith Elisa De Franco Ildem Akerman Richard Caswell Jorge Ferrer Andrew T Hattersley Sian Ellard

Nat Genet 2011 Dec 11;44(1):20-22. Epub 2011 Dec 11.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1038/ng.1035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962PMC
December 2011