List of works - Hans Eiberg

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

scientific article published on 22 February 2011

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

scientific article published on 9 January 2008

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

article

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

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

scientific article (publication date: June 2002)

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

scientific article

A high frequent BRCA1 founder mutation identified in the Greenlandic population

scientific article

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

scientific article

A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

scientific article published on 01 June 2008

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

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

scientific article published on 01 August 2007

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family

article

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

scientific article published in October 2012

Abdominal Wall Defects in Greenland 1989-2015

scientific article published on 2 May 2017

Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes

scientific article

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

scientific article

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

scientific article

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

scientific article published on 17 December 2015

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

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

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

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer

scientific article

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

scientific article published on 16 April 2014

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

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

scientific article published on 31 January 2009

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

scientific article

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension.

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

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

scientific article

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

scientific article

Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

scientific article

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

scientific article published on December 2003

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

article

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

scientific article published on 27 February 2012

Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

scientific article

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study

scientific article published on 23 April 2018

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

scientific article published on 01 March 2004

Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

scientific article

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

scientific article

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

article

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

scientific article

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study ⬇️

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

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 published on 01 April 2003

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

scientific article published in May 2006

Hereditary phenotypes in nocturnal enuresis

scientific article published on 28 June 2008

Heredity of supraglottic exercise-induced laryngeal obstruction

scientific article published on 17 August 2017

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

scientific article

High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study.

scientific article published on 28 January 2018

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

Human eye colour and HERC2, OCA2 and MATP.

scientific article published on 12 January 2010

Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome

scientific article published on 20 March 2020

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

scientific article published in January 2010

LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas

scientific article published on March 2007

Linkage study between manic‐depressive illness and chromosome 21

Major locus for red hair color linked to MNS blood groups on chromosome 4

article by Hans Eiberg & Jan Mohr published 28 June 2008 in Clinical Genetics

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion ofRARBandRARG

article

Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1

scientific article published on 01 February 2005

Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding

scientific article published on 08 August 2018

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

article

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

scientific article

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients

scientific article published on 01 July 2004

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

scientific article published on December 2005

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

scientific article

Non-disjunction of chromosome 13.

scientific article

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

article

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

scientific article

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

scientific article

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

scientific article

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

scientific article published on 19 September 2020

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

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

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

scientific article published on 16 November 2020

Reply

Screening for Y microdeletions in men with testicular cancer and undescended testis.

scientific article published on January 2006

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

scientific article published on 6 May 2009

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

scientific article published in Nature

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

article

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.

scientific article

The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype

scientific article published on 01 April 2007

The CHEK2 1100delC variant in Swedish colorectal cancer

scientific article published on 01 November 2006

The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.

scientific article published on 28 February 2015

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

scientific article published in September 2006

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

The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood

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

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

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

article

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

article

[From research to prevention in Greenland. Greenland Medical Society]

scientific article published on 01 March 2007

List of works by Hans Eiberg

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

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

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

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

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

A high frequent BRCA1 founder mutation identified in the Greenlandic population

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

A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

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

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

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

Abdominal Wall Defects in Greenland 1989-2015

Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes

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

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

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

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

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

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer

Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

Compound heterozygous ASPM mutations in Pakistani MCPH families

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

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

Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension.

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

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

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

Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study

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

Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

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

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

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

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study ⬇️

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

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

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

Hereditary phenotypes in nocturnal enuresis

Heredity of supraglottic exercise-induced laryngeal obstruction

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

High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study.

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

Human eye colour and HERC2, OCA2 and MATP.

Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome

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

LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas

Linkage study between manic‐depressive illness and chromosome 21

Major locus for red hair color linked to MNS blood groups on chromosome 4

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion ofRARBandRARG

Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1

Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding

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

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

Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients

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

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

Non-disjunction of chromosome 13.

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

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

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

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

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

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

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

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Reply

Screening for Y microdeletions in men with testicular cancer and undescended testis.

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

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

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

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.