J. Houghton

发表

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

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

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

J. Houghton, A. Pita, L. Pereira-da-Silva, 2015, Case reports in genetics.

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.

Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects

A. Sinha, A. Bagga, J. Houghton, 2018, CEN Case Reports.

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

S. Ellard, S. Flanagan, J. Houghton, 2018, Journal of Clinical Research in Pediatric Endocrinology.

Congenital Hyperinsulinism and Evolution to Sulfonylurea- responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

S. Ellard, S. Flanagan, J. Houghton, 2018 .

SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

S. Ellard, A. Kariminejad, S. Flanagan, 2012, Diabetologia.

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

B. Shields, K. Patel, T. Laver, 2021, European journal of endocrinology.

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.

V25. Benign familial neonatal seizures and transient neonatal diabetes in a family with a mutation in ABCC8 encoding the SUR1 subunit of the ATP-sensitive potassium (K-ATP) channel

J. Houghton, T. Kapellen, J. Lemke, 2015, Clinical Neurophysiology.

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

F. Ashcroft, A. Hattersley, S. Ellard, 2015, Clinical case reports.

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group

H. Huopio, N. Murphy, T. Laver, 2022, Pediatric diabetes.

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

S. Flanagan, J. Houghton, S. Senniappan, 2020, Journal of clinical research in pediatric endocrinology.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

A. Hattersley, S. Ellard, S. Flanagan, 2015, European Journal of Endocrinology.

Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene

S. Ellard, J. Houghton, V. Kshirsagar, 2013, International Journal of Diabetes in Developing Countries.

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

J. Houghton, S. Akçurin, İ. Bircan, 2017, Journal of clinical research in pediatric endocrinology.

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment

A. Hattersley, S. Ellard, S. Flanagan, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

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

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

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

M. Dattani, N. Oliver, S. Flanagan, 2020, Reviews in Endocrine and Metabolic Disorders.

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

T. Laver, S. Flanagan, J. Houghton, 2019, The journal of pathology. Clinical research.

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.

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

M. McCarthy, M. Weedon, A. Hattersley, 2016, Diabetes.

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.

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

A. Hattersley, S. Ellard, B. Knight, 2020, Clinical chemistry.

Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

S. Ellard, J. Houghton, R. Saxena, 2014, The Indian Journal of Pediatrics.

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

S. Ellard, F. Demirel, S. Flanagan, 2014, European journal of endocrinology.

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.

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

S. Flanagan, J. Houghton, A. Tiulpakov, 2019, Endocrine connections.

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective

P. de Coppi, S. Flanagan, J. Houghton, 2022, Journal of the Endocrine Society.

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.

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.

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

S. Ellard, T. Laver, S. Flanagan, 2018, bioRxiv.

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.

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

J. Houghton, Y. Kumar, Clinda Puvirajasinghe, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

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

Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene

J. Houghton, K. Tekgunduz, İ. Caner, 2014, Journal of pediatric endocrinology & metabolism : JPEM.

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

S. Ellard, T. Laver, S. Flanagan, 2020, PloS one.

Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation

C. Jackson, J. Houghton, Christina Wei, 2019, Pediatric diabetes.

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

J. H. Hua, S. Ellard, T. Laver, 2018, Clinical endocrinology.

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience

V. Radha, Anil Kumar, S. Flanagan, 2022, Indian Pediatrics.

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

J. Houghton, S. O’Connell, P. O’Shea, 2020, Clinical case reports.

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8

S. Flanagan, J. Houghton, S. Senniappan, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

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

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2

T. Laver, S. Flanagan, R. Caswell, 2023, medRxiv.

Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.

J. Houghton, 2020, Methods in molecular biology.

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

J. Houghton, S. Senniappan, I. Banerjee, 2023, Frontiers in Endocrinology.

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

J. Houghton, Y. Kumar, Clinda Puvirajasinghe, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Clinical Remission in a Patient with Congenital Hyperinsulinism due to Paternally Inherited Two Novel Mutations in KCJN11 Gene

S. Ellard, J. Houghton, A. Cebeci, 2014 .

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

S. Ellard, S. Flanagan, J. Houghton, 2018, Journal of clinical research in pediatric endocrinology.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

A. Hattersley, S. Ellard, S. Flanagan, 2015, European journal of endocrinology.

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.

N. Murphy, S. Flanagan, J. Houghton, 2022, European journal of endocrinology.