List of works - Karen E Heath

KLF6, a candidate tumor suppressor gene mutated in prostate cancer

scientific article (publication date: 21 December 2001)

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

scientific article

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

scientific article

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

scientific article

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

scientific article published on 01 June 1997

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

article

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

scientific article

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

scientific article published on 8 December 2010

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

scientific article

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

scientific article published on 01 July 2012

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

scientific article published on 9 November 2011

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

scientific article published on 01 April 2001

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

scientific article

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

scientific article published on 15 June 2015

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

scientific article published on October 2014

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

scientific article published on 29 September 2011

Primary Acid-Labile Subunit Deficiency due to RecessiveIGFALSMutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

scientific article published on 26 February 2008

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

article

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

scientific article

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

scientific article published on 21 April 2009

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

scientific article published on 12 October 2017

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

scientific article published in August 2006

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

scientific article published on 11 January 2016

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

scientific article published on 16 December 2014

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

scientific article

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

scientific article published on 13 April 2013

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

scientific article published in December 1997

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

scientific article

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

scientific article published on 01 May 2007

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion

scientific article published on 3 July 2013

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

scientific article published on 08 January 2014

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

scientific article published on 18 April 2012

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

scientific article published on 17 March 2016

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

scientific article published on 16 September 2015

FGF9 mutation causes craniosynostosis along with multiple synostoses

scientific article published on 21 July 2017

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

scientific article published on 01 August 1996

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

scientific article published on 29 June 2011

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

scientific article published on 10 December 2016

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

scientific article published on 25 February 2015

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

scientific article published on 20 April 2010

Multiple SLC26A2 mutations occurring in a three-generational family

scientific article published on October 10, 2017

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

scientific article

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX

scientific article published on 17 March 2011

List of works by Karen E Heath

KLF6, a candidate tumor suppressor gene mutated in prostate cancer

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

Primary Acid-Labile Subunit Deficiency due to RecessiveIGFALSMutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

A new overgrowth syndrome is due to mutations in RNF125.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

FGF9 mutation causes craniosynostosis along with multiple synostoses

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD)

Multiple SLC26A2 mutations occurring in a three-generational family

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX