Sian Ellard

Q: What Schools Are Affiliated With Sian Ellard

Sian Ellard is affiliated with the following schools: University of Exeter, Imperial College London, University of Oxford, University of Birmingham, Harvard University, King's College, Aberdeen

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Sian Ellard

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#2916

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Philosophy

Sian Ellard's Degrees

PhD Genetics University of Oxford
Bachelors Biology University of Oxford

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Sian Ellard's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity (2007) (4268)
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes (2007) (2245)
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (2004) (1091)
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. (2006) (910)
Large-scale discovery of novel genetic causes of developmental disorders (2014) (908)
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity (2020) (819)
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England (2021) (806)
SARS-CoV-2 evolution during treatment of chronic infection (2021) (647)
Mutations in the glucokinase gene of the fetus result in reduced birth weight (1998) (576)
Maturity-onset diabetes of the young (MODY): how many cases are we missing? (2010) (555)
Insulin gene mutations as a cause of permanent neonatal diabetes (2007) (532)
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 (2008) (492)
Hospital admission and emergency care attendance risk for SARS-CoV-2 delta (B.1.617.2) compared with alpha (B.1.1.7) variants of concern: a cohort study (2021) (488)
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes (2008) (486)
Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia (2009) (436)
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease (2014) (410)
Prevalence and architecture of de novo mutations in developmental disorders (2017) (405)
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young (2008) (390)
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis (2000) (375)
Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene (2007) (373)
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. (2010) (340)
Mutations in hepatocyte nuclear factor-1β and their related phenotypes (2005) (329)
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. (2013) (299)
Alagille syndrome: pathogenesis, diagnosis and management (2011) (297)
Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7 (2021) (285)
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. (2001) (281)
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. (2001) (271)
Insulin Mutation Screening in 1,044 Patients With Diabetes (2008) (269)
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing (2013) (259)
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (2011) (258)
GATA6 haploinsufficiency causes pancreatic agenesis in humans (2011) (252)
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis (2013) (249)
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. (2008) (248)
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. (2014) (242)
Mutations in the Hepatocyte Nuclear Factor–1α Gene Are a Common Cause of Maturity-Onset Diabetes of the Young in the U.K. (1997) (241)
Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism (2009) (237)
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study (2015) (233)
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (2006) (226)
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents (2018) (224)
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype (2006) (222)
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. (2009) (221)
The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes (2012) (220)
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. (2001) (219)
HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum (2015) (213)
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection (2005) (211)
Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood (2007) (207)
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin‐treated patients (2009) (207)
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria (2000) (205)
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework (2019) (202)
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. (2007) (199)
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. (2006) (198)
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. (2001) (191)
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation (2015) (188)
Relapsing diabetes can result from moderately activating mutations in KCNJ11. (2005) (186)
The laminopathies: a clinical review (2006) (182)
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis (2010) (179)
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism (2010) (178)
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity‐onset diabetes of the young (2006) (178)
Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity‐Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia (2013) (175)
Islet autoantibodies can discriminate maturity‐onset diabetes of the young (MODY) from Type 1 diabetes (2011) (170)
Prospective functional classification of all possible missense variants in PPARG (2016) (167)
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes (2016) (160)
Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia (2013) (160)
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β1: 1See Editorial by Woolf, p. 1202 (2000) (156)
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. (2003) (154)
Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young (2012) (153)
Mutated MESP2 causes spondylocostal dysostosis in humans. (2004) (151)
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. (2003) (148)
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. (2002) (147)
Hepatocyte nuclear factor‐1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF‐1β in human pancreatic development (2006) (147)
The diagnosis and management of monogenic diabetes in children and adolescents (2014) (147)
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3 (2011) (145)
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy (2013) (144)
Heterozygous ABCC8 mutations are a cause of MODY (2011) (143)
Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome (2008) (142)
Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities (2010) (140)
Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort (2014) (138)
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. (2006) (136)
Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations (2008) (134)
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features (2006) (134)
Emery's Elements Of Medical Genetics (1998) (132)
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations (2010) (131)
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. (2009) (131)
Maturity onset diabetes of the young: identification and diagnosis (2013) (128)
AIP mutation in pituitary adenomas in the 18th century and today. (2011) (127)
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man (2014) (127)
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. (2001) (127)
Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes (2016) (127)
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis (2003) (127)
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. (2003) (126)
Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families (2010) (126)
GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency (2013) (125)
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers (2015) (123)
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. (2001) (122)
The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort (2014) (121)
HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months (2006) (121)
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. (2014) (116)
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births (2009) (115)
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. (2000) (114)
Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes (2009) (111)
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation (2009) (111)
Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1α and -1β Mutations (2004) (110)
Hyperinsulinaemic hypoglycaemia (2009) (110)
A novel mutation causing DEND syndrome (2007) (109)
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients (2013) (109)
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C (2008) (108)
tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans (2013) (108)
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion (2012) (107)
Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes (2011) (105)
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. (2007) (105)
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. (2002) (104)
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes (2014) (104)
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients (2017) (103)
β-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1α Mutation Carriers (2005) (103)
Mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism (2006) (103)
Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. (2007) (103)
Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies (2013) (100)
Increased all‐cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene (2010) (98)
Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young* (2005) (97)
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. (2004) (95)
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing (2005) (94)
ACGS Best Practice Guidelines for Variant Classification 2019 (2019) (90)
ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020 (2020) (89)
High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes (2011) (87)
Hepatocyte nuclear factor 1 alpha (HNF‐1α) mutations in maturity‐onset diabetes of the young (2000) (86)
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. (2005) (85)
Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options (2013) (85)
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11 (2010) (85)
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV) (2010) (84)
Novel GLIS3 mutations demonstrate an extended multisystem phenotype. (2011) (84)
Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. (2003) (84)
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. (2018) (84)
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. (2000) (83)
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. (2003) (82)
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. (2013) (82)
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (2008) (82)
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study (2018) (82)
Exponential growth, high prevalence of SARS-CoV-2, and vaccine effectiveness associated with the Delta variant (2021) (82)
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. (2017) (82)
The detection and evaluation of aneugenic chemicals. (1996) (80)
Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations (2009) (79)
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study (2016) (79)
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance (2017) (79)
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia (2012) (78)
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. (2008) (77)
Congenital Titinopathy: Comprehensive characterization and pathogenic insights (2018) (75)
Concordance of assays designed for the quantification of JAK2V617F: a multicenter study (2009) (75)
Micronucleus assays using cytochalasin-blocked MCL-5 cells, a proprietary human cell line expressing five human cytochromes P-450 and microsomal epoxide hydrolase. (1993) (75)
The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development (2008) (75)
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance (2020) (73)
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. (1999) (73)
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young (2007) (72)
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study (2012) (72)
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype (2013) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
The use of genetically engineered V79 Chinese hamster cultures expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays. (1991) (71)
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. (2009) (71)
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. (2003) (71)
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation (2005) (71)
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period (2007) (71)
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. (2011) (70)
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus (2018) (69)
Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts (2017) (67)
Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism (2014) (67)
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life (2012) (66)
Pitfalls of haplotype phasing from amplicon-based long-read sequencing (2016) (66)
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. (2003) (65)
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes (2009) (65)
Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products (2000) (65)
Predictive genetic testing in maturity‐onset diabetes of the young (MODY) (2001) (64)
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. (2004) (64)
C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes (1998) (64)
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations (2011) (63)
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene (2003) (62)
Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies (2000) (62)
Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects (2006) (62)
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes (2016) (61)
Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes (2020) (61)
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A–MODY cohort (2016) (61)
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome (2012) (60)
Childhood presentation of COL4A1 mutations (2012) (60)
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy (2007) (60)
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity‐onset diabetes of the young (MODY) (2003) (60)
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. (2001) (60)
Cellular and chromosomal hypersensitivity to DNA crosslinking agents and topoisomerase inhibitors in the radiosensitive Chinese hamster irs mutants: phenotypic similarities to ataxia telangiectasia and Fanconi's anaemia cells. (1993) (59)
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. (2007) (59)
Expanding the Clinical Spectrum Associated With GLIS3 Mutations (2015) (59)
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. (2008) (58)
Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31 (2000) (58)
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin (2018) (58)
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young (1997) (58)
Permanent neonatal diabetes in an Asian infant. (2005) (57)
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment (2012) (57)
An investigation into the activation and deactivation of chlorinated hydrocarbons to genotoxins in metabolically competent human cells. (1996) (57)
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing (2017) (57)
An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism (2008) (57)
The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay (2005) (56)
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. (1999) (56)
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder (2016) (56)
Incidence of neonatal diabetes in Austria–calculation based on the Austrian Diabetes Register (2010) (55)
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. (2004) (55)
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. (2005) (55)
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia (2017) (55)
ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal disease. (2001) (54)
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. (2010) (54)
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes (2017) (53)
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine‐responsive megaloblastic anaemia (2012) (53)
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children (2011) (53)
Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees (2011) (53)
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. (2004) (52)
A study of the aneugenic activity of trichlorfon detected by centromere-specific probes in human lymphoblastoid cell lines. (1996) (51)
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics (2002) (50)
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia (2011) (49)
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study (2016) (49)
Characteristics of maturity onset diabetes of the young in a large diabetes center (2015) (48)
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation (2004) (48)
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study (2019) (48)
An exome sequencing strategy to diagnose lethal autosomal recessive disorders (2014) (48)
Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. (2014) (48)
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes (2007) (48)
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 (2007) (47)
Cushing syndrome secondary to a thymic carcinoid tumor due to multiple endocrine neoplasia type 1. (2011) (46)
Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. (2008) (46)
Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment (2012) (45)
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 (2015) (44)
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome (2004) (44)
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. (2002) (43)
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. (2000) (42)
Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes (2001) (42)
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age (2013) (42)
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). (2017) (42)
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. (1998) (42)
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes (2002) (41)
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes (2016) (41)
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. (2021) (41)
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia (2007) (41)
Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans (2009) (41)
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations (2011) (40)
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. (2005) (40)
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management (2016) (40)
Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes. (2012) (40)
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans (2014) (40)
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency (2013) (39)
Mutations in the ABCC8 (SUR1 subunit of the KATP channel) gene are associated with a variable clinical phenotype (2009) (39)
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability (2014) (39)
Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes (2009) (38)
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development (2019) (38)
Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1 (2008) (38)
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism (2009) (38)
Mutation surveyor: software for DNA sequence analysis. (2011) (37)
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses (2018) (37)
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time (2016) (37)
GATA 6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insuf fi ciency (2012) (37)
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies (2021) (37)
Clinical utility gene card for: Maturity-onset diabetes of the young (2014) (35)
Sulfonylurea Treatment in Young Children With Neonatal Diabetes (2007) (35)
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. (2019) (35)
Familial Focal Congenital Hyperinsulinism (2010) (34)
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. (1999) (34)
Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. (2008) (34)
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis (2008) (34)
HNF1B deletions in patients with young‐onset diabetes but no known renal disease (2013) (34)
The heterogeneity of focal forms of congenital hyperinsulinism. (2012) (34)
tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy (2016) (33)
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications. (2011) (33)
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (2012) (33)
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress (2020) (33)
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. (2014) (33)
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment (2015) (33)
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (2020) (33)
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (2018) (32)
- Cell Genes and Diabetes : Quantitative and Qualitative Differences in the Pathophysiology of Hepatic Nuclear Factor-1 and Glucokinase Mutations (2001) (32)
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response (2014) (32)
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. (2014) (32)
A family with a novel TSH receptor activating germline mutation (p.Ala485Val) (2008) (31)
Neurogenin 3 is important but not essential for pancreatic islet development in humans (2014) (31)
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood (2019) (31)
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates (2016) (30)
Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans (2012) (30)
Use of multicolour chromosome painting to identify chromosomal rearrangements in human lymphocytes exposed to bleomycin: A comparison with conventional cytogenetic analysis of giemsa‐stained chromosomes (1995) (30)
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. (2011) (30)
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer (2018) (30)
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia (2008) (29)
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications (2008) (29)
A modified protocol for the cytochalasin B in vitro micronucleus assay using whole human blood or separated lymphocyte cultures. (1993) (29)
Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1 (2009) (29)
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. (2006) (29)
Evidence for Haploinsufficiency of the Human HNF1α Gene Revealed by Functional Characterization of MODY3-Associated Mutations (2002) (29)
Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes (2016) (29)
Maturity-Onset Diabetes of the Young Caused by a Balanced Translocation Where the 20q12 Break Point Results in Disruption Upstream of the Coding Region of Hepatocyte Nuclear Factor-4α (HNF4A) Gene (2002) (28)
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus (2015) (28)
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus (2013) (28)
Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II (2018) (28)
Risk category system to identify pituitary adenoma patients with AIP mutations (2018) (27)
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. (2007) (27)
A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes (2018) (27)
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes (1997) (27)
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors (2020) (27)
Transcription factor HNF1beta and novel partners affect nephrogenesis. (2008) (27)
Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2 (2009) (27)
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism (2020) (26)
Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes. (2003) (26)
Defining the genetic aetiology of monogenic diabetes can improve treatment (2006) (26)
Discovery of a Novel Site Regulating Glucokinase Activity following Characterization of a New Mutation Causing Hyperinsulinemic Hypoglycemia in Humans* (2011) (26)
In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets (2010) (26)
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome (2008) (26)
Asian MODY: are we missing an important diagnosis? (2006) (26)
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction (2019) (25)
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation (2015) (25)
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG (2010) (25)
Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland (2016) (25)
Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. (2002) (25)
Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort (2015) (25)
Practice guidelines for Targeted Next Generation Sequencing Analysis and Interpretation (2014) (25)
Prematurity and Genetic Testing for Neonatal Diabetes (2016) (25)
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells (2017) (24)
The expression of cytochrome P450IIB1 in Saccharomyces cerevisiae results in an increased mutation frequency when exposed to cyclophosphamide. (1989) (24)
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. (2009) (24)
Rapid genomic testing for critically ill children: time to become standard of care? (2021) (24)
A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer (2013) (24)
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype (2012) (24)
Diagnosis of monogenic diabetes: 10‐Year experience in a large multi‐ethnic diabetes center (2015) (24)
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome (2018) (24)
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms (2010) (24)
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants (2020) (23)
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 (2011) (23)
An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. (2009) (23)
Recommendations for clinical interpretation of variants found in non-coding regions of the genome (2021) (23)
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia (1998) (23)
South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people (2016) (23)
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease (2018) (23)
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. (2008) (23)
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton (2018) (23)
Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks (2010) (23)
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk (2016) (23)
Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell (2011) (23)
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia (2013) (23)
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus (2017) (22)
In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy (2011) (22)
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review (2019) (21)
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY (2011) (21)
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young (2002) (21)
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. (2008) (21)
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (2010) (21)
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated (2019) (21)
Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation. (2007) (20)
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family (2015) (20)
Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma. (2012) (20)
No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. (2000) (20)
Assessing performance of pathogenicity predictors using clinically-relevant variant datasets (2020) (20)
A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. (2013) (20)
GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey (2016) (20)
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation (2020) (20)
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings (2013) (20)
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. (2013) (20)
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene (2017) (20)
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia (2019) (20)
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (2003) (20)
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta‐like 3 mutations (2004) (20)
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy (2020) (20)
Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of MODY (2021) (20)
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia—a case series (2014) (20)
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. (2015) (20)
Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors (2016) (19)
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. (2020) (19)
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus (2016) (19)
SavvyCNV: Genome-wide CNV calling from off-target reads (2019) (19)
Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis (2012) (19)
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study (2016) (19)
Mesangiocapillary Glomerulonephritis Type 2 Associated with Familial Partial Lipodystrophy (Dunnigan-Kobberling Syndrome) (2004) (19)
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene (2009) (19)
Assessing performance of pathogenicity predictors using clinically relevant variant datasets (2020) (19)
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network (2020) (19)
Biomonitoring study of a group of workers potentially exposed to traffic fumes (1997) (19)
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. (2019) (19)
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. (2010) (19)
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes (2007) (18)
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome (2020) (18)
Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant (2011) (18)
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene (2006) (18)
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience (2016) (18)
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas (2012) (18)
Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction (2005) (18)
A Combination of Nifedipine and OctreotideTreatment in an HyperinsulinemicHypoglycemic Infant (2014) (17)
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations (2020) (17)
The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II (2017) (17)
Genomic variant sharing: a position statement (2019) (17)
Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia (2015) (17)
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy (2018) (17)
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. (2002) (16)
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells (2020) (16)
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 (2017) (16)
A comparative study of the use of primary Chinese hamster liver cultures and genetically engineered immortal V79 Chinese hamster cell lines expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays. (1993) (16)
A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation. (2000) (16)
CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (16)
A conserved tryptophan at the membrane–water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated (2011) (16)
Analysis of large‐scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia (2017) (16)
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. (2008) (16)
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1 (2018) (16)
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 (2020) (15)
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation (2018) (15)
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene (2014) (15)
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. (2014) (15)
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing (1999) (15)
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay (2010) (15)
Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood‐onset diabetes (2013) (15)
Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care. (2014) (15)
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation (2015) (15)
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. (2006) (15)
Long-Term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. (2020) (15)
Clinical Applications of Next‐Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting (2013) (14)
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1 (2019) (14)
Multiple endocrine neoplasia type 1Burin from Mauritius: A novel MEN 1 mutation1 (2001) (14)
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course (2015) (14)
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1 (2012) (14)
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. (2020) (14)
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation (2016) (14)
Permanent Neonatal Diabetes Caused by a Novel Mutation (2012) (13)
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression (2017) (13)
Partial ABCC8 gene deletion mutations causing diazoxide‐unresponsive hyperinsulinaemic hypoglycaemia (2012) (13)
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (2018) (13)
A comparison of conventional metaphase analysis of Giemsa-stained chromosomes with multi-colour fluorescence in situ hybridization analysis to detect chromosome aberrations induced by daunomycin. (1996) (13)
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes (2020) (13)
Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy (2008) (13)
Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene (2011) (13)
Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement (2017) (13)
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY (2018) (12)
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly (2021) (12)
Diabetes Susceptibility in the Canadian Oji-Cree Population Is Moderated by Abnormal mRNA Processing of HNF1A G319S Transcripts (2008) (12)
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism (2013) (12)
Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing (2015) (12)
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia (2011) (12)
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro (2010) (12)
Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation (2013) (12)
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism (2017) (12)
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes (2011) (11)
Treatment of genetic disease (2007) (11)
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture (2015) (11)
KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes (2010) (11)
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B (2016) (11)
Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India (2017) (11)
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K. (2022) (11)
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY (2021) (11)
Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene (2012) (11)
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes (2017) (10)
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia (2015) (10)
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. (2013) (10)
Genetic mutations associated with neonatal diabetes mellitus in Omani patients (2018) (10)
The detection, definition and regulation of aneugenic chemicals (1993) (10)
Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene (2012) (10)
The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. (2012) (10)
Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1 (2002) (10)
Permanent neonatal diabetes mellitus in Jordan (2014) (10)
Practice guidelines for Sanger Sequencing Analysis and Interpretation. (2009) (9)
Mutations in KATP Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Running Title: TNDM and KATP channel mutations Received for publication 15 January 2007 and accepted in revised form 6 April 2007. (2007) (9)
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes (2020) (9)
Fainting Fanconi syndrome clarified by proxy: a case report (2017) (9)
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation (2019) (9)
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients (2011) (9)
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. (2019) (9)
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. (2006) (9)
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy (2018) (9)
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions (2018) (9)
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene (2020) (9)
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. (2012) (9)
Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation (2012) (9)
Induction of micronuclei in V79 Chinese hamster cells by hydroquinone and econazole nitrate. (1993) (9)
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population (2019) (8)
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. (2021) (8)
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis (2003) (8)
Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. (2011) (8)
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes (2017) (8)
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. (2015) (8)
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia (2019) (8)
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes (2020) (8)
Clinical and molecular predictors of sustained response to trastuzumab in metastatic breast cancer (2005) (7)
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism (2014) (7)
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome (2020) (7)
Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation (2018) (7)
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. (2019) (7)
Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism (2016) (7)
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data (2019) (7)
The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype (2017) (7)
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics (2021) (7)
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy (2016) (7)
Increased sterigmatocystin-induced mutation frequency in Saccharomyces cerevisiae expressing cytochrome P450 CYP2B1. (1992) (7)
Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF‐1α) gene which causes maturity‐onset diabetes of the young (MODY) (2000) (7)
Congenital Hyperinsulinism and Evolution to Sulfonylurea- responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation (2018) (7)
Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings (2016) (7)
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis (2018) (7)
Phenotype-Genotype Relationships in Maturity-Onset Diabetes of the Young (2000) (7)
Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations (2013) (7)
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy (2015) (7)
A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. (2017) (7)
Persistent Hyperinsulinaemic Hypoglycaemia and Maturity Onset Diabetes of the Young ( MODY ) due to Heterozygous HNF 4 A Mutations (2008) (7)
in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease (2011) (6)
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans (2008) (6)
Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report. (2014) (6)
The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene (2010) (6)
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. (2012) (6)
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia (2010) (6)
Prenatal testing for a novel EBP missense mutation causing X‐linked dominant chondrodysplasia punctata (2008) (6)
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy (2020) (6)
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia (2017) (6)
Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59 (2013) (6)
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation (2013) (6)
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia (2018) (6)
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic (2018) (6)
Single Centre Experience of Neonatal Diabetes (2015) (6)
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. (2022) (6)
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea. (2016) (6)
Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP (2000) (6)
Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation. (2001) (6)
Primate-specific ZNF808 is essential for pancreatic development in humans (2021) (6)
Differential diagnosis: Identifying people with monogenic diabetes (2010) (6)
Observations¶Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus (2001) (6)
Reclassification of Diabetes Etiology in a Family With Multiple Diabetes Phenotypes (2014) (5)
Three cases of Wolfram syndrome with different clinical aspects (2014) (5)
R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family (2000) (5)
PIGG variant pathogenicity assessment reveals characteristic features within 19 families (2021) (5)
Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome (2011) (5)
MODY in Ukraine: genes, clinical phenotypes and treatment (2017) (5)
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest (2013) (5)
Index and Predisposes to Childhood and Adult Obesity Gene Is Associated with Body Mass FTO A Common Variant in the (2012) (5)
Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome (2014) (5)
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (2011) (5)
Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques. (2009) (5)
Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission (2022) (5)
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes. (2012) (5)
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death (2019) (5)
Induction of micronuclei and non-disjunction in binucleate human lymphoblastoid cells by trichlorfon and dichlorvos (1996) (5)
Effective treatment with oral sulfonylureas in patients with diabetes due to SUR1 Mutations. (2007) (4)
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022) (4)
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436–1443 (2017) (4)
Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion. (2007) (4)
Misannotation of multiple-nucleotide variants risks misdiagnosis. (2019) (4)
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in (2009) (4)
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey (2020) (4)
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory (2022) (4)
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. (2021) (4)
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. (2009) (4)
Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction (2007) (4)
Galactokinase deficiency in a patient with congenital hyperinsulinism. (2011) (4)
Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring (2014) (4)
The HNF 4 A R 76 W (2014) (4)
Early‐onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene (2012) (4)
Extending criteria for genetic testing increases diagnosis of maturity-onset diabetes of the young (2010) (4)
Congenital abnormalities and dysmorphic syndromes (2007) (4)
Hemoglobin and the hemoglobinopathies (2007) (4)
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). (2022) (4)
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC 8 / KCNJ 11 mutations (2014) (4)
Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. (2021) (4)
Genomic variant sharing: a position statement. (2019) (4)
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation (2015) (3)
Chromosomes and cell division (2007) (3)
Identification of HNF 1 A-MODY and HNF 4 A-MODY in Irish families : Phenotypic characteristics and therapeutic implications (2011) (3)
Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology. (2009) (3)
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective (2020) (3)
Next-Generation Sequencing for the Diagnosis of Monogenic Diabetes and Discovery of Novel Aetiologies (2014) (3)
Neonatal Diabetes in a Singapore Children's Hospital: Molecular Diagnoses of Four Cases. (2014) (3)
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (European Journal of Endocrinology (2011) 164 (919-926)) (2011) (3)
Type 2 Diabetes and Triglyceride Levels Genome-Wide Association Analysis Identifies Loci (3)
Hyperinsulinism--hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype phenotype correlations (2008) (3)
Update of variants identified in the pancreatic β-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes (2020) (3)
Are ''in silico'' predictions reliable regarding splice-site mutations? - Studies in the aryl hydrocarbon receptor-interacting protein (AIP) (2012) (3)
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype (2020) (3)
Founder Effect in Recurring AIP Mutation Causing Familial Isolated Pituitary Adenoma Syndrome (2014) (3)
Integration of biomarkers and clinical characteristics provides the best method for identifying patients with MODY (2012) (3)
Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer". (2018) (3)
Permanent neonatal diabetes caused by a novel mutation in the INS gene. (2013) (3)
Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation (2005) (3)
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome (2020) (3)
Correction to: Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (Genetics in Medicine, (2019), 21, 1, (233-242), 10.1038/s41436-018-0013-9) (2018) (3)
A genetically engineered V79 cell line SD1 expressing rat CYP2B1 exhibits chromosomal instability at the integration site of the transfected DNA. (1995) (3)
Phase III study of taxane chemotherapy with lapatinib or trastuzumab as first-line therapy for women with HER2/neu-positive metastatic breast cancer (BC) (NCIC Clinical Trials Group (NCICCTG)MA.31/GSK EGF 108919). (2011) (3)
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism (2022) (3)
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood (2022) (2)
Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance (2017) (2)
Phenotype, genotype of neonatal diabetes mellitus due to insulin gene mutation (2015) (2)
Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction (2003) (2)
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra. (2013) (2)
A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control (2011) (2)
Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees (2008) (2)
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] (2022) (2)
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology (2015) (2)
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 (2018) (2)
Permanent neonatal diabetes due to a novel L105P (c.314T>C; p.Leu105Pro) heterozygous mutation in insulin gene (2013) (2)
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD) (2021) (2)
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism (2021) (2)
The cellular and molecular basis of inheritance (2007) (2)
Transcription factor HNF1β and novel partners affect nephrogenesis. Commentary (2008) (2)
Variants in the isoform‐specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young‐onset diabetes or renal cysts and diabetes (RCAD) (2009) (2)
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. (2022) (2)
An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth (2017) (2)
Many patients have an identifiable genetic cause of Hirschsprung’s disease (2012) (2)
Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” (2018) (2)
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital (2021) (2)
Genetic Testing in Diabetes Mellitus (2010) (2)
1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settings (2021) (2)
Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease (2007) (2)
Spondylocostal dysostosis associated with methylmalonic aciduria. (2009) (2)
Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation (2008) (2)
Mathematical and population genetics (2007) (2)
Misannotation of multiple-nucleotide variants risks misdiagnosis (2019) (2)
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. (2014) (2)
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia (2014) (2)
Identification of mutations in the Kir6.2 subunit of the K(ATP) channel. (2008) (2)
Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes (2008) (2)
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice (2020) (1)
Erratum: Expanding the clinical spectrum associated with GLIS3 mutations (The Journal of Clinical Endocrinology & Metabolism (2015) 100:10 (E1362-E1369) DOI: 10.1210/jc.2015-1827) (2015) (1)
Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia (2010) (1)
DNA technology and applications (2007) (1)
AB132. Neonatal diabetes in Wolcott-Rallison syndrome: a case report (2015) (1)
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES P.239Congenital titinopathy: severe and atypical presentations (2018) (1)
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. (2019) (1)
Congenital Hyperinsulinism Due to Compound Heterozygous Mutation in ABCC8 and KCNJ11 GENES: 20 Years Experience of A National Referral Centre (2016) (1)
Prenatal testing and reproductive genetics (2007) (1)
A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis (2016) (1)
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model (2022) (1)
Neonatal Diabetes in Ukraine (2016) (1)
Multiple subtypes of diabetes are associated with activating mutations in KCNJ11, which encodes the Kir6.2 sub-unit of the beta-cell ATP sensitive potassium (K-ATP) channel (2004) (1)
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes (2021) (1)
Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products. (2006) (1)
AB125. Neonatal diabetes mellitus due to insulin gene mutation (2015) (1)
Hepatocyte Nuclear Factor 1-beta (HNF-1 beta): One gene - how many phenotypes? (2001) (1)
Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting (2009) (1)
Chapter 10. HEMOGLOBIN AND HEMOGLOBINOPATHIES, in: Emery's ELEMENTS OF MEDICAL GENETICS (2011) (1)
Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism (2013) (1)
Familial hyperinsulinism caused by a novel activating glucokinase mutation (2002) (1)
A pathway to insulin independence in newborns and infants with diabetes (2011) (1)
Functional characterisation of aryl hydrocarbon receptor interacting protein (AIP) promoter and silent mutations (2010) (1)
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. (2021) (1)
P.171 CNTNAP1: Extending the phenotype of congenital hypomyelinating neuropathy in 6 further patients (2017) (1)
Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322 (2018) (1)
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome (2020) (1)
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report (2021) (1)
Mapping and identifying genes for monogenic disorders (2007) (1)
Polygenic and multifactorial inheritance (2007) (1)
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 (2022) (1)
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (2020) (1)
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. (2022) (1)
Genotype-phenotype associations in 90 children with congenital hyperinsulinism (2015) (1)
Phenotypic differences between patients with familial pituitary neuroendocrine tumours due to MEN1 or AIP mutations (2020) (1)
Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes (2008) (1)
Detection of clonal B-cell populations using fluorescently labeled nucleotides. (2000) (1)
Pegvisomant treatment for X-linked acrogigantism syndrome (2015) (1)
AB128. Neonatal diabetes mellitus: genotype, phenotype and outcome. (2015) (1)
Neonatal diabetes in Wolcott–Rallison syndrome: a case report (2013) (1)
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation (2017) (1)
The Role of mTORC1/RagGTPase and IGF1R/mTORC2/Akt Pathways and the Response of Diffuse Congenital Hyperinsulinism to Sirolimus (2014) (1)
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus (2015) (1)
Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience (2013) (1)
The Result of Sulphonylureas Treatment in Patients with Neonatal Diabetes Mellitus due to kcnj11/abcc8 Gene Mutations in Vietnam (2014) (1)
Pituitary adenoma and phaeochromocytoma/paraganglioma [ndash] a novel syndrome with a heterogeneous genetic background (2013) (1)
Sequencing PDX 1 ( insulin promoter factor 1 ) in 1788 UK individuals found 5 % had a low frequency coding variant , but these variants are not associated with Type 2 diabetes (2011) (1)
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome (2022) (1)
Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912 (2020) (1)
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 (2021) (1)
Neonatal Diabetes Mellitus in Vietnam National Children Hospital (2018) (1)
A genome scan reveals heterogeneity among European families with maturity onset diabetes of the young (2001) (1)
[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]. (2010) (1)
DWP6-4 Novel hepatocyte nuclear factor 4-alpha (HNF4A) promoter mutation in a New Zealand family (2008) (1)
Loss-of-function of the tRNA methyltransferase homolog gene TRMT10A causes young onset diabetes and primary microcephaly in humans (2013) (1)
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. (2019) (1)
Haemochromatosis and type 2 diabetes (1998) (1)
Orals (2006) (1)
Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia (2018) (1)
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes (2022) (1)
Case Reports (2011) (1)
Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation (2019) (1)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
Neonatal Diabetes - Experience from a Single Centre in Sri Lanka (2015) (1)
Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride (2012) (1)
AUTHOR COPY ONLY Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 (2014) (0)
Novel GLIS 3 mutations demonstrate an extended multisystem 1 phenotype 2 3 (2010) (0)
Clinical characterisation of hyperinsulinaemic hypoglycaemia associated with intra-uterine growth restriction (2011) (0)
A 5-Year Single-Centre Experience on the Safety and Efficacy of Sirolimus Therapy used for the Treatment of Congenital Hyperinsulinaemic Hypoglycaemia (2018) (0)
Unique clinical picture in patients with X-linked acrogigantism (2015) (0)
1100 Presentation, Clinical and Genetic Outcomes in a Series of Infants with Congenital Hyperinsulinism (2010) (0)
Wolcott-Rallison Syndrome in Two Siblings with no Implication of EIF2AK3 Mutation (2014) (0)
Minutes of the 32nd General Assembly of the European Association for the Study of Diabetes (2009) (0)
In vitro recovery of functional KATP channels in congenital hyperinsulinism of infancy (CHI) (2010) (0)
Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials (2007) (0)
Juvenile Diabetes & Visual Impairment: Wolfram Syndrome. (2019) (0)
The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators (2020) (0)
649 A Case of Permanent Neonatal Diabetes Mellitus (2012) (0)
Discontinuation of Diazoxide Therapy in Children with Hyperinsulinaemic Hypoglycaemia with no Identified Genetic Aetiology: a Long-term Follow-up Study (2015) (0)
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series (2018) (0)
Genomic Testing for Monogenic Diabetes in the UK: A Three-Fold Increase in Diagnoses Since 2009 (2021) (0)
Transcription factor HNF1b and novel partners affect (2008) (0)
HAEMOCHROMATOSIS AND TYPE 2 DIABETES. AUTHORS' REPLY (1998) (0)
Iconography : A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report (2013) (0)
Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre (2019) (0)
Normoammonaemic Protein Sensitive Hyperinsulinaemic Hypoglycaemia: ? A novel syndrome (2013) (0)
Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2 (2008) (0)
Mutations and Nucleotide Changes Relating to Mutations in GLIS 3 (2015) (0)
Clinical Characterisation of a Novel RFX6 Mutation - A Rare Cause of Neonatal Diabetes Syndrome (2015) (0)
An Infant with a Novel Kir6.2 Mutation Causing Neonatal Diabetes and Unexplained Lack of Response to Sulphonylurea (2014) (0)
PrevalenceofVascularComplicationsAmongPatientsWith GlucokinaseMutationsandProlonged,MildHyperglycemia (2014) (0)
20 Cases of Congenital Hyperinsulinism in Ukraine (2018) (0)
Familial diabetes in Asian families; remember MODY (2005) (0)
Human Molecular Geneticsc (2013) (0)
Fetal genotype is the primary determinant of fetal growth in gestational diabetes due to a mutation in the maternal glucokinase gene (2000) (0)
Supplementary data for Igreja 2010 Characterization of AIP mutations in FIPA families (2013) (0)
A Homozygous Loss of Function HNF1A Variant Resulting in Sulfonylurea-Responsive Early-Onset Diabetes (2016) (0)
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants (2021) (0)
The diverse phenotypes of KATP channel mutations (2011) (0)
Supplementary Material for: Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort (2017) (0)
Transient Hyperinsulinaemic Hypoglycaemia in Association with a Novel ABCC8 Mutation: Expanding the Clinical Phenotypes (2015) (0)
Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes (2016) (0)
Clinical Details, Molecular Genetic Analysisand Clinical Pheonotype Correlation of 14 Patients with Neonatal Diabetes from The South India - A Single Centre Experience (2018) (0)
Growth-hormone treatment and risk of diabetes (2000) (0)
Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene (2021) (0)
A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes (2016) (0)
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) (0)
Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN (2019) (0)
Premature birth and fetal growth retardation in nonautoimmune hyperthyroidism due to activating thyrotropin receptor gene mutation (2004) (0)
Patient recruitment strategy for family studies investigating novel genetic causes of maturity-onset diabetes of the young (2005) (0)
Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism (2013) (0)
Clinical Remission in a Patient with Congenital Hyperinsulinism due to Paternally Inherited Two Novel Mutations in KCJN11 Gene (2014) (0)
Case report: a novel PHEX mutation in a female with X-linked hypo-phosphataemic rickets (2013) (0)
Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease (2018) (0)
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. (2018) (0)
Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and Its Management (2016) (0)
Digenic mutation resulting in a rare form of diazoxide responsive congenital hyperinsulinism (2015) (0)
Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation (2015) (0)
Report of a novel variant causing a schneckenbecken-like dysplasia (2019) (0)
A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation (2019) (0)
The use of genetically engineered V79 Chinese hamster and AHH-1 human lymphoblastoid cultures expressing cytochrome P450 cDNAs in micronucleus assays (1992) (0)
ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma (2016) (0)
Novel GLIS3 mutations in two patients with resistant hypothyroidism, neonatal diabetes, hepatitis, renal cystic dysplasia, osteopenia and pancreatic exocrine dysfunction [Abstract] (2009) (0)
Screening for genetic disease (2007) (0)
Severe Congenital Hyperinsulinism in a Neonate Homozygous for Two Novel Missense Mutations in the KCNJ11 Gene (2015) (0)
Insulin resistance and intrauterine growth retardation due to a novel balanced translocation (46,t(7;19)(p15.2;p13.2)) which disrupts the insulin receptor (INSR) gene (2007) (0)
AB072. Novel mutation in the hepatocyte nuclear factor 1b/maturity-onset diabetes of the young type 5 gene—unreported Vietnamese case (2015) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification? (2007) (0)
AbSTRAcT REvIEWING coMMITTEE (2009) (0)
Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype (2015) (0)
siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of (2007) (0)
Neonatal Diabetes Mellitus: Clinical Feature and Outcome (2015) (0)
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice. (2020) (0)
Short Report: Genetics Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency (2013) (0)
A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide (2016) (0)
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes (2004) (0)
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance (2020) (0)
Ethical and legal issues in medical genetics (2007) (0)
Diazoxide Responsive Congenital Hyperinsulinism in a Patient with Dual Genetic Aetiology (HNF4A and ABCC8 Mutation) (2015) (0)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria (2022) (0)
Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes (2009) (0)
Special features of neonatal diabetes in a series of Arab patients from the Gulf region (2013) (0)
The genotype-phenotype relationship in congenital hyperinsulinism of infancy (CHI): the Northern Congenital Hyperinsulinism (NORCHI) Service 2 year experience (2008) (0)
INVESTIGATIONS FOR A SPECIFIC AETIOLOGY ARE BENEFICIAL IN A SUBSET OF YOUNG-ONSET TYPE 2 SUBJECTS (2002) (0)
Leucine sensitive hyperinsulinaemic hypoglycaemia in patients with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH) (2010) (0)
Molecular genetic testing for hypophosphatemic rickets (2010) (0)
Diagnostic mutation testing in multiple endocrine neoplasia type 1 (MEN1): Support for the current referral criteria (2005) (0)
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy (2018) (0)
Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy (2022) (0)
Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity (2008) (0)
Congenital Hyperinsulinism: Clinical and Molecular Characteristics - Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results - Treatment Responses and Short Term Outcomes of 5 Patients (2018) (0)
HNF1B MUTATIONS: REVIEW OF 109 AFFECTED PROBANDS (2009) (0)
A MAFA missense mutation causes familial insulinomatosis and diabetes mellitus 1 2 (2018) (0)
A clinic for multiple endocrine neoplasia highlights needs for greater family awareness of type 1 MEN and for genetic testing of other family members (2004) (0)
Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: A Single-Center Experience (2016) (0)
(2013). Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age. Archives of Disease in Childhood: Fetal and Neonatal Edition, 98(4), F356-F359. (2013) (0)
Increasing weight in children with congenital hyperinsulinism is linked to KATP channel gene mutations (2013) (0)
Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy (2007) (0)
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance (2017) (0)
The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes (2007) (0)
Loss-of-function of TRMT10A causes young onset diabetes and microcephaly (2013) (0)
Clinical care and other categories posters: Maturity onset diabetes of the young (MODY) (2019) (0)
Diabetes mellitus and hyperinsulinaemic hypoglycaemia (HH) due to dominant ABCC8/KCNJ11 mutations (2009) (0)
Basic and clinical science posters: Neuropathy (2021) (0)
Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 (2018) (0)
G220 HEPATOCYTE NUCLEAR FACTOR 1 β EXPRESSION IN NORMAL AND ABNORMAL HUMAN KIDNEY DEVELOPMENT (2001) (0)
Congenital Hyperinsulinism in a Newborn with a Novel Paternally Inherited Heterozygous Mutation (p.E1517G) in the ABCC8 Gene (2015) (0)
Neonatal Diabetes: New Genes, New Mechanisim, New Phenotypes (2014) (0)
Detection of chemically induced chromosome aberrations by multicolour chromosome painting (1996) (0)
Multiple endocrine neoplasia types 1 and 2. (2004) (0)
Basic and clinical science posters: Maturity onset diabetes of the young (MODY) (2021) (0)
Thiamine Responsive Megaloblastic Anemia Due to SLCA19A2 Gene Mutation: Another Cause of Neonatal Diabetes with Succcesfull Switch from Insulin to Thiamine (2016) (0)
SARS-CoV-2 evolution during treatment of chronic infection (2021) (0)
Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case (2015) (0)
Geographical cluster of familial isolated pituitary adenoma kindreds with an identical AIP mutation (2010) (0)
Altered Expression of HCN Channels in Patients with Congenital Hyperinsulinism of Infancy (CHI) (2010) (0)
A Novel Mutation in the abcc8 Gene Causing a Variable Phenotype of Impaired Glucose Metabolism in the Same Family (2015) (0)
Frequency of focal and diffuse congenital hyperinsulinism with paternally inherited mutations in ABCC8 and KCNJ11 (2013) (0)
A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism due to a Homozygous ABCC8 Missense Mutation Previously Reported to be Dominant (2018) (0)
Very low doses of glibenclamide as successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2 (2010) (0)
2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (0)
The Genetic Causes and Phenotypic Characteristics of Egyptian Patients with Neonatal Diabetes Mellitus (2016) (0)
Successful treatment of four patients with severe hyperinsulinaemic hypoglycaemia with a novel therapy using mTOR inhibitor (2013) (0)
Long Acting Somatostatin Analogues in the Management of Congenital Hyperinsulinism in Cases with Poor Compliance to Conventional Therapy (2015) (0)
Clinical Characteristics and Molecular Analysis of Turkish Patients with Congenital Hyperinsulinism: a Single-Centre Experience with 15 Cases (2015) (0)
Is primary hypothyroidism a new feature of Wolcott-Rallison Syndrome? (2011) (0)
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults (2009) (0)
Feeding problems and their associated predictive factors in congenital hyperinsulinism of infancy (CHI) (2010) (0)
Sedaghatian spondylometaphyseal dysplasia in two siblings. (2022) (0)
6q24 Transient Neonatal Diabetes Mellitus-16 years of data collection (2012) (0)
One is never enough: a case report of three different diabetes phenotypes in a single family (2013) (0)
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. (2022) (0)
The spectrum of disease in diazoxide responsive hyperinsulinaemic hypoglycaemia (2010) (0)
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Are Critical Features of MODY: Lessons from a 5-Year Paediatric Swedish National Cohort Study (2019) (0)
Symptomatic west syndrome in neonatal diabetes and developmental delay (DEND-syndrome)? (2006) (0)
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (1999) (0)
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease (2018) (0)
Short term outcome of congenital hyperinsulinism: case series (2013) (0)
Permanent neonatal diabetes mellitus due to a homozygous R397L (Glucokinase) mutation managed with CSII therapy (2011) (0)
Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease (2018) (0)
Non-Mody Monogenic Diabetes: A Very Heterogenous and Problematic Group of Diabetes (2016) (0)
MOLECULAR GENETIC STUDIES OF NEURODEGENERATIVE DISEASE (2013) (0)
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia (2015) (0)
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 (2018) (0)
A genome wide scan for linkage in families with early onset maturity-onset diabetes of the young suggests a potential role for genes on chromosomes 2p 3q, 4q and 10q in glucose homeostasis (2007) (0)
Creation of a locus-specific database for AIP mutations (2013) (0)
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report (2021) (0)
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly (2021) (0)
The history and impact of genetics in medicine (2007) (0)
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder (2022) (0)
Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism (2015) (0)
IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report (2016) (0)
Diabetes and Triglyceride Levels Genome-Wide Association Analysis Identifies Loci for Type 2 (2011) (0)
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia (2019) (0)
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. (2022) (0)
The use of fluorescent in situ hybridization technology in the detection of numerical and structural chromosomal aberrations in cultured human lymphocytes (1995) (0)
Erratum: Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects (Diabetes (2006) 55, (1705-1712)) (2007) (0)
Abstracts of the 49th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Prague, Czech Republic. September 22-25, 2010. (2010) (0)
Population Screening for the Irish Founder AIP Mutation R304*Reveals a Prevalence of 1/500 in the Local Population, While High Mutation Frequency Is Present Among Irish Familial and Sporadic Somatotropinoma Patients (2014) (0)
SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2 (2017) (0)
Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report (2015) (0)
The phenotype of late-presenting congenital hyperinsulinism (2010) (0)
6q24 Transient Neonatal Diabetes Mellitus (TNDM)-16 years of data collection. (2012) (0)
Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia - a 10-year follow-up Study in a Tertiary Centre (2018) (0)
RET genetic screening in patients with multiple endocrine neoplasia type 2 and medullary thyroid carcinoma: experience of the Exeter Molecular Genetics Laboratory (2014) (0)
A Syndrome of Permanent Neonatal Diabetes Mellitus and Neurological Abnormalities due to a Novel Homozygous Missense c.449T>A (p.I150N) Mutation in NEUROD1 Gene (2016) (0)
The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity (2014) (0)
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory (2022) (0)
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance (2020) (0)
Variable clinical picture of mutations in the ABCC8 gene: can it be modified by the sensitivity to insulin or the islet-specific antibodies? (2008) (0)
P37 Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM (2011) (0)
Genetic heterogeneity in permanent neonatal diabetes (2008) (0)
Prevalence of HNF4A gene mutations in patients with diazoxide responsive hyperinsulinism (2009) (0)
Chronic Administration of Insulin Like Growth Factors ( IGFs ) Modulates Response to Human Chorionic Gonadotropin ( HCG ) by Leydig Cells of Human Prepubertal Testes ( HPT ) In Culture (2008) (0)
Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants (2018) (0)
The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland (2015) (0)
AB110. Genotype and phenotype of 107 patients with congenital hyperinsulinism (2017) (0)
4th Update on Fabry Nephropathy: Biomarkers, Progression and Treatment Opportunities. June 1-2, 2015, Manchester, UK: Abstracts (2015) (0)
Supplementary material : A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report (2013) (0)
Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey (2014) (0)
University of Dundee tRNA methyltransferase homologue gene TRMT 10 A mutation in young adult-onset diabetes with intellectual disability , microcephaly and epilepsy (2017) (0)
Viral genetic sequencing identifies staff transmission of COVID-19 is important in a community hospital outbreak (2021) (0)
Altered plasma incretin concentrations in patients with non-typical forms of congenital hyperinsulinism (2013) (0)
Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene (2016) (0)
Neonatal Diabetes: the importance of genetic testing (2018) (0)
Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology (2018) (0)
Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals” (2018) (0)
Marked hypercalcaemia in sepsis-induced multiple organ failure (2007) (0)
Patterns of inheritance (2007) (0)
Insights from Monogenic Diabetes (2016) (0)
Igreja HUMAN MUTATION 2010 on line supp info (2013) (0)
P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies (2019) (0)
Genetic factors in common diseases (2007) (0)
Transient Neonatal Diabetes Mellitus in Hanoi, Vietnam: Clinical Feature and Outcome (2016) (0)
Mutation testing in multiple endocrine neoplasia (MEN1): an audit (2004) (0)
Anemia in a Child with Deafness: Be Vigilant for a Rare Cause! (2015) (0)
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance (2020) (0)
Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes (2016) (0)
Autosomal dominant renal cysts and diabetes (RCAD): A novel syndrome of diabetes and cystic kidney disease resulting from hepatocyte nuclear factor - 1 beta gene mutations (2000) (0)
THE XXIII CONGRESS OF THE BULGARIAN ANATOMICAL SOCIETY (2018) (0)
Differential Expression of microRNA in MODY (2015) (0)
A Case of Mu1tiple Endocrine Neoplasia Type 1 (MEN1) Caused By A New Genetic Mutation (2001) (0)
Biallelic INS mutations are the commonest cause of permanent neonatal diabetes in consanguineous pedigrees (2008) (0)
Short Report: Genetics Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes (2011) (0)
Should prophylactic thyroidectomy be carried out in mucosal neuroma syndrome (2006) (0)
Successful discontinuation of insulin treatment after gestational diabetes is shown to be a case of MODY due to a glucokinase mutation (2008) (0)
P.11 The phenotype in E410K Beta-tubulin isotype 3 mutations (2011) (0)
Clinical, genetic, histological and radiological heterogeneity of focal forms of congenital hyperinsulinism (2011) (0)
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2 (2017) (0)
The yin and yang of beta cell genetics (2010) (0)
Cover Image, Volume 176A, Number 9, September 2018 (2018) (0)
Skeletal phenotype in mandibulo-acral dysplasia associated with ZMPSTE24 mutations and the effects of bisphosphonate treatment (2009) (0)
homozygous PTF 1 A enhancer mutations and one with DEND syndrome due to KCNJ 11 mutation Short Running Title : Neonatal diabetes due to PTF 1 A enhancer and KCNJ 11 Manuscript Type : Case Report (2017) (0)
SP030HNF1B WHOLE-GENE DELETIONS ARE ASSOCIATED WITH AUTISTIC TRAITS (2015) (0)
Single-gene disorders (2007) (0)
12 Clinical and radiological features of COL4A1 disease (2011) (0)
Acknowledgement to referees 2003 (2004) (0)
THE X INTERNATIONAL SYMPOSIUM ON CLINICAL ANATOMY (2017) (0)

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