E. De Franco

发表

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Anna Murray, Khalid Hussain, Ludovic Vallier, 2013, Nature Genetics.

In celebration of a century with insulin – Update of insulin gene mutations in diabetes

A. Hattersley, Soo-young Park, G. Bell, 2021, Molecular metabolism.

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

John J. Mitchell, S. Ellard, S. Flanagan, 2017, Diagnostic Pathology.

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

A. Hattersley, S. Ellard, J. Edge, 2014, Cell metabolism.

Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM

S. Flanagan, E. De Franco, K. Hussain, 2018, International Journal of Diabetes in Developing Countries.

A homozygous p.(Arg371Ser) mutation in FICD de-regulates AMPylation of the human endoplasmic reticulum chaperone BiP causing infancy-onset diabetes and severe neurodevelopmental delay

D. Ron, E. De Franco, H. Harding, 2022, medRxiv.

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

A. Hattersley, S. Ellard, P. Vanderhaeghen, 2020, The Journal of clinical investigation.

Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence

M. Cnop, P. Arvan, E. De Franco, 2021, Frontiers in Endocrinology.

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes

A. Hattersley, W. Hagopian, S. Ellard, 2022, Diabetologia.

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

S. Ellard, E. De Franco, E. Eren, 2020, Journal of clinical research in pediatric endocrinology.

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

A. Hattersley, S. Ellard, C. Shaw-Smith, 2014, Diabetes.

A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report.

A. Hattersley, S. Ellard, S. Flanagan, 2013, Diabetes & metabolism.

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

F. Ashcroft, S. Ellard, L. Harries, 2017, Journal of clinical research in pediatric endocrinology.

Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features

A. Hattersley, S. Flanagan, E. De Franco, 2021, Pediatric diabetes.

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

A. Hattersley, S. Ellard, A. Slavotinek, 2015, The Journal of clinical endocrinology and metabolism.

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

S. Ellard, E. De Franco, 2015, Pediatric clinics of North America.

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

S. Ellard, E. De Franco, M. Gabbay, 2017, Journal of clinical research in pediatric endocrinology.

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

A. Hattersley, S. Ellard, F. Urano, 2017, Diabetes.

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations

Nguyen Ngoc Lan, Nguyen Ngoc Khanh, S. Flanagan, 2022, Frontiers in Endocrinology.

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

S. Ellard, E. De Franco, H. Onal, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment

F. Ashcroft, A. Hattersley, E. De Franco, 2018, Diabetic medicine : a journal of the British Diabetic Association.

Genetic mutations associated with neonatal diabetes mellitus in Omani patients

A. Hattersley, S. Ellard, S. Flanagan, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

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

S. Ellard, S. Flanagan, E. De Franco, 2017, Experimental and Clinical Endocrinology & Diabetes.

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

M. Weedon, A. Hattersley, S. Ellard, 2016, Diabetes.

Neonatal diabetes caused by disrupted pancreatic and β‐cell development

E. De Franco, 2021, Diabetic medicine : a journal of the British Diabetic Association.

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations

A. Hattersley, A. Çayır, S. Flanagan, 2020, The Journal of clinical endocrinology and metabolism.

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

A. Hattersley, S. Ellard, C. Shaw-Smith, 2013, Diabetic medicine : a journal of the British Diabetic Association.

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

S. Ellard, E. De Franco, O. Ercan, 2017, Journal of clinical research in pediatric endocrinology.

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

S. Ellard, S. Kurtoğlu, S. Flanagan, 2018, Pediatric diabetes.

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

A. Hattersley, S. Ellard, A. Patch, 2018, Genetics in Medicine.

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

M. Weedon, A. Hattersley, S. Ellard, 2022, Nature Genetics.

Primate-specific ZNF808 is essential for pancreatic development in humans

A. Hattersley, S. Ellard, C. Wright, 2021, medRxiv.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

E. De Franco, Y. Tenenbaum‐Rakover, M. Barhoum, 2018, Frontiers in Endocrinology.

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

H. Yaghootkar, M. Hashemipour, E. De Franco, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

E. De Franco, D. Milenkovic, Natasa Rojnic Putarek, 2020, Journal of Pediatric Genetics.

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome

A. Hattersley, S. Ellard, S. Flanagan, 2018, Diabetologia.

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

A. Hattersley, S. Ellard, S. Flanagan, 2020, bioRxiv.

Long-Term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

A. Hattersley, S. Ellard, M. Polak, 2020, Diabetes care.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

S. Ellard, A. Offiah, E. Baple, 2019, Human molecular genetics.

S. Ellard, H. Stewart, E. De Franco, 2020, Clinical genetics.

Vaginal progesterone is associated with a decrease in risk for early preterm birth and improved neonatal outcome in women with a short cervix: a secondary analysis from a randomized, double‐blind, placebo‐controlled trial

J. Weeks, E. De Franco, D. Lewis, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Human mutation.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

M. Weedon, A. Hattersley, S. Ellard, 2013, Diabetologia.

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

A. Hattersley, S. Ellard, H. L. Allen, 2015, The Lancet.

A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.

A. Hattersley, P. Gadue, E. De Franco, 2020, Cell stem cell.

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Richard S. Lee, S. Mane, S. Ellard, 2019, American journal of human genetics.

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

S. Ellard, M. Borowiec, E. De Franco, 2015, Acta Diabetologica.

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

A. Slavotinek, E. De Franco, F. Gurbuz, 2016, American journal of medical genetics. Part A.

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

S. Flanagan, E. De Franco, Y. Elhenawy, 2022, Journal of diabetes investigation.

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

E. De Franco, 2020, Journal of molecular biology.

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

S. Ellard, E. De Franco, K. Karavanaki, 2017, Journal of clinical research in pediatric endocrinology.

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

A. Hattersley, S. Ellard, A. Gloyn, 2014, Human molecular genetics.

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

A. Hattersley, S. Ellard, K. Patel, 2019, Diabetes.

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

S. Ellard, M. Roden, C. Herder, 2017, Genes.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

A. Hattersley, S. Ellard, H. Lango Allen, 2017, Diabetes.

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

A. Hattersley, S. Ellard, D. Ron, 2019, Diabetes.

Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India

V. Mohan, S. Ellard, V. Radha, 2017, Indian Pediatrics.

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

J. Kere, A. Hattersley, Å. Lernmark, 2014, Nature Genetics.

Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country

S. Flanagan, E. De Franco, M. Hanif, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

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

A. Hattersley, S. Ellard, K. Patel, 2018, Diabetologia.

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

M. Weedon, A. Hattersley, S. Ellard, 2021, medRxiv.

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

E. De Franco, J. Houghton, F. Schreiner, 2021, Frontiers in Endocrinology.

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome

A. Hattersley, K. Patel, S. Flanagan, 2023, Journal of Clinical Immunology.

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes

Kristin A. Maloney, K. Owen, A. Gloyn, 2023, medRxiv.

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

A. Hattersley, W. Hagopian, S. Ellard, 2020, Diabetologia.

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

C. Lelliott, A. Hattersley, R. Siebert, 2019, American journal of human genetics.

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

A. Hattersley, S. Ellard, C. Shaw-Smith, 2013, Diabetes.

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital

Nguyen Ngoc Lan, Nguyen Ngoc Khanh, S. Ellard, 2021, Frontiers in Endocrinology.

Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

E. Zackai, D. Rader, S. Ellard, 2021, American journal of human genetics.

Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes

A. Hattersley, S. Ellard, V. Iotova, 2016, Diabetic medicine : a journal of the British Diabetic Association.

A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

A. Hattersley, S. Flanagan, E. De Franco, 2022, Clinical genetics.

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience

S. Flanagan, E. De Franco, N. Salem, 2021, Acta Diabetologica.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

A. Hattersley, S. Ellard, C. Shaw-Smith, 2016, Diabetes.

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP

A. Hattersley, D. Ron, S. Flanagan, 2023, EMBO molecular medicine.

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience

S. Poyrazoglu, F. Baş, F. Darendeliler, 2021, Hormone Research in Paediatrics.

Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6

A. Hattersley, S. Ellard, C. Shaw-Smith, 2018 .

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

A. Hattersley, S. Ellard, A. Patch, 2018, Genetics in Medicine.

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

K. Patel, E. De Franco, J. Houghton, 2020, Canadian journal of diabetes.

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

E. De Franco, H. Arnell, B. Fischler, 2019, Clinical case reports.

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

M. Weedon, A. Hattersley, K. Patel, 2023, Diabetes.

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

R. Freathy, A. Hattersley, S. Flanagan, 2023, The Journal of clinical investigation.

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

S. Ellard, E. De Franco, A. Brady, 2019, Coronary artery disease.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

Kristin A. Maloney, K. Owen, A. Gloyn, 2023, Communications medicine.

Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine

Kristin A. Maloney, J. Pankow, L. Redman, 2023, Nature Medicine.

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq

E. De Franco, S. Pruhova, P. Dusatkova, 2023, Diabetologia.

Disease-modifying therapies and features linked to treatment response in type 1 diabetes prevention: a systematic review

Kristin A. Maloney, J. Pankow, A. Hattersley, 2023, Communications medicine.

Juvenile Diabetes & Visual Impairment: Wolfram Syndrome.

S. Ellard, E. De Franco, A. Annamalai, 2019, QJM : monthly journal of the Association of Physicians.