Hussain, Khalid

Publications

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selected publications

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning. European journal of pediatrics. 2019 Academic Article GET IT
Times cited: 13
Ion Transporters, Channelopathies, and Glucose Disorders. International journal of molecular sciences. 2019 Information Resource GET IT
Times cited: 21
HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion. Molecular genetics & genomic medicine. 2019 Academic Article GET IT
Times cited: 13
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical endocrinology. 2018 Academic Article GET IT
Times cited: 5
Continuous Subcutaneous Insulin Infusion Characteristics in Type 1 Diabetes Children and Adolescents in Qatar. Diabetes therapy : research, treatment and education of diabetes and related disorders. 2018 Academic Article GET IT
Times cited: 6
Continuous Subcutaneous Insulin Infusion Characteristics in Type 1 Diabetes Children and Adolescents in Qatar. Journal of diabetes science and technology. 2018 Article GET IT
Optimizing a Hybrid Closed Loop System in Type 1 Diabetes: A Case Report. Diabetes therapy : research, treatment and education of diabetes and related disorders. 2018 Academic Article GET IT
Times cited: 3
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. Orphanet journal of rare diseases. 2018 Academic Article GET IT
Times cited: 14
Diagnosis and management of hyperinsulinaemic hypoglycaemia. Best practice & research. Clinical endocrinology & metabolism. 2018 Information Resource GET IT
Times cited: 15
Congenital Hyperinsulinism: Diagnosis and Treatment Update. Journal of clinical research in pediatric endocrinology. 2017 Information Resource GET IT
Times cited: 115
Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology. International journal of pediatric endocrinology. 2017 Information Resource GET IT
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Human mutation. 2017 Article GET IT
Times cited: 14
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia. The Journal of clinical endocrinology and metabolism. 2017 Academic Article GET IT
Times cited: 14
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. Journal of the American Society of Nephrology : JASN. 2017 Academic Article GET IT
Times cited: 89
Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene. The Journal of clinical endocrinology and metabolism. 2017 Academic Article GET IT
Times cited: 18
Hyperinsulinaemic hypoglycaemia in children and adults. The lancet. Diabetes & endocrinology. 2016 Information Resource GET IT
Times cited: 38
Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia. Endocrinology, diabetes & metabolism case reports. 2016 Academic Article GET IT
Idiopathic postprandial hyperinsulinaemic hypoglycaemia. Journal of pediatric endocrinology & metabolism : JPEM. 2016 Academic Article GET IT
Times cited: 7
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes. 2016 Academic Article GET IT
Times cited: 21
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. Frontiers in endocrinology. 2016 Information Resource GET IT
Times cited: 46
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I. Hormone research in paediatrics. 2016 Academic Article GET IT
Times cited: 10
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management. Indian pediatrics. 2015 Information Resource GET IT
Times cited: 13
Functional characterization of multiple DICER1 mutations in an adolescent. Endocrine-related cancer. 2015 Article GET IT
Times cited: 17
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism. The Journal of clinical endocrinology and metabolism. 2015 Academic Article GET IT
Times cited: 24
What is a normal blood glucose?. Archives of disease in childhood. 2015 Information Resource GET IT
Times cited: 73
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC research notes. 2015 Academic Article GET IT
Times cited: 8
Equilibrative nucleoside transporter 3 depletion in β-cells impairs mitochondrial function and promotes apoptosis: Relationship to pigmented hypertrichotic dermatosis with insulin-dependent diabetes. Biochimica et biophysica acta. 2015 Academic Article GET IT
Times cited: 9
Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism. International journal of clinical and experimental pathology. 2015 Academic Article GET IT
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X). Case reports in pediatrics. 2015 Academic Article GET IT
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. European journal of endocrinology. 2015 Academic Article GET IT
Times cited: 60
The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation. Journal of pediatric endocrinology & metabolism : JPEM. 2015 Academic Article GET IT
Times cited: 9
Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy. International journal of pediatric endocrinology. 2014 Academic Article GET IT
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron. Physiology. 2014 Academic Article GET IT
Times cited: 21
Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia. World journal of diabetes. 2014 Information Resource GET IT
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. European journal of endocrinology. 2014 Academic Article GET IT
Times cited: 24
Congenital hyperinsulinism: Role of fluorine-18L-3, 4 hydroxyphenylalanine positron emission tomography scanning. World journal of radiology. 2014 Information Resource GET IT
Sirolimus in severe hyperinsulinemic hypoglycemia. The New England journal of medicine. 2014 Article GET IT
Times cited: 4
Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. The Journal of clinical endocrinology and metabolism. 2014 Academic Article GET IT
Times cited: 34
Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning. Clinical endocrinology. 2014 Academic Article GET IT
Times cited: 7
Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PloS one. 2014 Academic Article GET IT
Times cited: 72
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. European journal of endocrinology. 2014 Academic Article GET IT
Times cited: 13
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. Cell metabolism. 2014 Academic Article GET IT
Times cited: 123
Pediatric hypoglycemia. Advances in clinical chemistry. 2014 Article GET IT
Times cited: 8
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinology, diabetes & metabolism case reports. 2013 Academic Article GET IT
An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia. International journal of endocrinology. 2013 Academic Article GET IT
Times cited: 7
Biochemical studies in patients with hyperinsulinaemic hypoglycaemia. European journal of pediatrics. 2013 Academic Article GET IT
Times cited: 9
18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: initial UK experience from a technologist's perspective. Nuclear medicine communications. 2013 Academic Article GET IT
Times cited: 24
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European journal of endocrinology. 2013 Academic Article GET IT
Times cited: 190
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of disease in childhood. Fetal and neonatal edition. 2013 Academic Article GET IT
Times cited: 44
The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian journal of endocrinology and metabolism. 2013 Academic Article GET IT
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American journal of human genetics. 2012 Academic Article GET IT
Times cited: 66
Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase. The Journal of clinical endocrinology and metabolism. 2012 Information Resource GET IT
Times cited: 14
Characterisation and validation of insertions and deletions in 173 patient exomes. PloS one. 2012 Academic Article GET IT
Times cited: 7
Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes. Diabetes care. 2012 Academic Article GET IT
Times cited: 14
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2012 Article GET IT
Times cited: 24
Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. Journal of clinical research in pediatric endocrinology. 2012 Information Resource GET IT
Times cited: 65
Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans. Archives of disease in childhood. 2012 Academic Article GET IT
Times cited: 23
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet journal of rare diseases. 2012 Academic Article GET IT
Times cited: 32
Recurrent spontaneous hypoglycaemia causes loss of neurogenic and neuroglycopaenic signs in infants with congenital hyperinsulinism. Clinical endocrinology. 2012 Academic Article GET IT
Times cited: 13
Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clinical endocrinology. 2012 Article GET IT
Times cited: 8
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. Journal of inherited metabolic disease. 2012 Information Resource GET IT
Times cited: 71
Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. Journal of pediatric endocrinology & metabolism : JPEM. 2012 Academic Article GET IT
Times cited: 6
Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD reports. 2011 Article GET IT
Times cited: 4
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatric diabetes. 2011 Academic Article GET IT
Times cited: 57
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Frontiers in endocrinology. 2011 Academic Article GET IT
Times cited: 11
An activating mutation of AKT2 and human hypoglycemia. Science (New York, N.Y.). 2011 Article GET IT
Times cited: 147
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia. 2011 Academic Article GET IT
Times cited: 61
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. Diabetes. 2011 Academic Article GET IT
Times cited: 24
Investigations for neonatal hypoglycaemia. Clinical biochemistry. 2011 Academic Article GET IT
Times cited: 10
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. European journal of endocrinology. 2011 Academic Article GET IT
Times cited: 22
In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes. 2011 Academic Article GET IT
Times cited: 19
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. The Journal of clinical endocrinology and metabolism. 2011 Academic Article GET IT
Times cited: 54
Change in plasma and erythrocyte thiol levels in children undergoing fasting studies for investigation of hypoglycaemia. Pediatric endocrinology, diabetes, and metabolism. 2011 Academic Article GET IT
The predictive value of preoperative fluorine-18-L-3,4-dihydroxyphenylalanine positron emission tomography-computed tomography scans in children with congenital hyperinsulinism of infancy. Journal of pediatric surgery. 2011 Academic Article GET IT
Times cited: 31
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. Pediatric diabetes. 2010 Academic Article GET IT
Times cited: 30
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia. Reviews in endocrine & metabolic disorders. 2010 Information Resource GET IT
Times cited: 38
Congenital hyperinsulinism. Early human development. 2010 Information Resource GET IT
Times cited: 86
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European journal of endocrinology. 2010 Academic Article GET IT
Times cited: 119
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America. 2010 Academic Article GET IT
Times cited: 181
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. The Journal of clinical endocrinology and metabolism. 2009 Academic Article GET IT
Times cited: 115
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European journal of endocrinology. 2009 Academic Article GET IT
Times cited: 89
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP : Journal of the pancreas. 2009 Article GET IT
Times cited: 4
Postprandial hyperinsulinaemic hypoglycaemia and type 1 diabetes mellitus. BMJ case reports. 2009 Academic Article GET IT
Times cited: 2
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Human molecular genetics. 2009 Academic Article GET IT
Times cited: 74
The genetic basis of congenital hyperinsulinism. Journal of medical genetics. 2009 Information Resource GET IT
Times cited: 114
Congenital hyperinsulinism: [F]DOPA PET/CT scan of a focal lesion in the head of the pancreas. BMJ case reports. 2009 Academic Article GET IT
Hyperinsulinaemic hypoglycaemia. Archives of disease in childhood. 2009 Information Resource GET IT
Times cited: 91
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nature clinical practice. Endocrinology & metabolism. 2009 Information Resource GET IT
Times cited: 71
Elevated basal and post-feed glucagon-like peptide 1 (GLP-1) concentrations in the neonatal period. European journal of endocrinology. 2008 Academic Article GET IT
Times cited: 20
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. European journal of endocrinology. 2008 Academic Article GET IT
Times cited: 63
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Molecular genetics and metabolism. 2008 Article GET IT
Times cited: 4
Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas. Archives of disease in childhood. Fetal and neonatal edition. 2008 Academic Article GET IT
Times cited: 2
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2007 Academic Article GET IT
Times cited: 267
Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Archives of disease in childhood. 2007 Information Resource GET IT
Times cited: 58
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. Clinical endocrinology. 2007 Academic Article GET IT
Times cited: 21
Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development. Diabetologia. 2007 Academic Article GET IT
Times cited: 28
Rapid genetic analysis in congenital hyperinsulinism. Hormone research. 2006 Academic Article GET IT
Times cited: 16
Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. Archives of disease in childhood. Fetal and neonatal edition. 2006 Article GET IT
Times cited: 34
Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Hormone research. 2006 Conference Paper GET IT
Times cited: 60
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. 2006 Academic Article GET IT
Times cited: 209
Regulation of glucagon secretion at low glucose concentrations: evidence for adenosine triphosphate-sensitive potassium channel involvement. Endocrinology. 2005 Academic Article GET IT
Times cited: 42
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. The Journal of clinical endocrinology and metabolism. 2004 Academic Article GET IT
Times cited: 70
Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI). Pediatric endocrinology reviews : PER. 2004 Information Resource GET IT
Times cited: 34
Hyperinsulinaemic hypoglycaemia in infancy and childhood--resolving the enigma. Journal of pediatric endocrinology & metabolism : JPEM. 2004 Information Resource GET IT
Times cited: 10
Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants. Journal of pediatric endocrinology & metabolism : JPEM. 2004 Academic Article GET IT
Times cited: 13
Hyperinsulinism in infancy: understanding the pathophysiology. The international journal of biochemistry & cell biology. 2003 Information Resource GET IT
Times cited: 16
Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses. The Journal of clinical endocrinology and metabolism. 2003 Academic Article GET IT
Times cited: 43
Spontaneous hypoglycemia in childhood is accompanied by paradoxically low serum growth hormone and appropriate cortisol counterregulatory hormonal responses. The Journal of clinical endocrinology and metabolism. 2003 Academic Article GET IT
Times cited: 33
Exogenous administered DL- sodium beta-hydroxybutyrate (beta-OHB) can cross the blood brain barrier. Pediatric research. 2003 Article GET IT
Times cited: 1
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. The Journal of clinical endocrinology and metabolism. 2002 Academic Article GET IT
Times cited: 33
p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes. 2001 Academic Article GET IT
Times cited: 84
The inaccuracy of venous and capillary blood glucose measurement using reagent strips in the newborn period and the effect of haematocrit. Early human development. 2000 Academic Article GET IT
Times cited: 34
The Theileria annulata sporozoite and macroschizont polypeptide encoded by the spm1 gene shares phenylalanine-glycine motifs with nuclear pore proteins. Molecular and biochemical parasitology. 1999 Academic Article GET IT
Preaxial polydactyly in an infant with Down's syndrome. Clinical genetics. 1999 Article GET IT
Identification of a Theileria annulata antigen expressed in multiple stages of the parasite life cycle. Experimental parasitology. 1998 Academic Article GET IT
Times cited: 5
Ricin B chain fragments expressed in Escherichia coli are able to bind free galactose in contrast to the full length polypeptide. Glycoconjugate journal. 1994 Academic Article GET IT
Times cited: 4

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Background

education and training

M.Sc., University of London (United Kingdom) 96
M.D., University College, London School of Medicine (United Kingdom) 2003
M.B.,Ch.B., University of Glasgow Faculty of Medicine (United Kingdom) 1988

Contact

full name

Khalid Hussain

primary email

khh2003@qatar-med.cornell.edu

VIVO Weill Cornell Medical College

Khalid Hussain Professor of Pediatrics

Publications

selected publications

Background

education and training

Contact

full name

primary email