List of works - Hans Eiberg

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

scientific article

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

scientific article

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

scientific article

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

scientific article

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

scientific article

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

scientific article

Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes

scientific article

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

scientific article published on 31 January 2009

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

scientific article

Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes

scientific article published on 10 December 2008

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

scientific article published in Nature

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

article

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

scientific article published on December 2005

Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma

scientific article published on 01 March 2004

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

scientific article published in September 2006

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

scientific article

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

scientific article published on 18 July 2007

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

scientific article published on 10 May 2017

The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites

article

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

scientific article (publication date: June 2002)

Human eye colour and HERC2, OCA2 and MATP.

scientific article published on 12 January 2010

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

scientific article

Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes

article

Heat-shock protein 70 genes and human longevity: a view from Denmark

scientific article published in May 2006

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

scientific article

Mutational analysis of the human FATE gene in 144 infertile men.

scientific article

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

scientific article

Non-disjunction of chromosome 13.

scientific article

Polymorphisms in Phase I and Phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case–control study in Inuit women

scientific article published on March 16, 2014

Cytoplasmic expression of E-cadherin and beta-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas.

scientific article

Compound heterozygous ASPM mutations in Pakistani MCPH families

scholarly article by Farooq Muhammad et al published 7 April 2009 in American Journal of Medical Genetics

A high frequent BRCA1 founder mutation identified in the Greenlandic population

scientific article

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

scientific article published on 01 April 2008

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

scientific article published on 16 April 2014

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

scientific article

Linkage study between manic‐depressive illness and chromosome 21

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

scientific article published on 01 August 2007

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

article

Heterogeneity in glucose response curves during an oral glucose tolerance test and associated cardiometabolic risk

scientific article

Differential nongenetic impact of birth weight versus third-trimester growth velocity on glucose metabolism and magnetic resonance imaging abdominal obesity in young healthy twins

scientific article published on 6 July 2011

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

scientific article

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

scientific article published on 6 May 2009

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

scientific article

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

article

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

scientific article published on 7 March 2014

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

article

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

scientific article

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

scientific article published in January 2010

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

article

List of works by Hans Eiberg

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

Human eye colour and HERC2, OCA2 and MATP.

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

Variation in the gene encoding Krüppel-like factor 7 influences body fat: studies of 14 818 Danes

Heat-shock protein 70 genes and human longevity: a view from Denmark

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Mutational analysis of the human FATE gene in 144 infertile men.

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Non-disjunction of chromosome 13.

Polymorphisms in Phase I and Phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case–control study in Inuit women

Cytoplasmic expression of E-cadherin and beta-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas.

Compound heterozygous ASPM mutations in Pakistani MCPH families

A high frequent BRCA1 founder mutation identified in the Greenlandic population

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

Linkage study between manic‐depressive illness and chromosome 21

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

Heterogeneity in glucose response curves during an oral glucose tolerance test and associated cardiometabolic risk

Differential nongenetic impact of birth weight versus third-trimester growth velocity on glucose metabolism and magnetic resonance imaging abdominal obesity in young healthy twins

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins