List of works - Denise Horn

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

scientific article

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

Walking the interactome for prioritization of candidate disease genes

scientific article published on 27 March 2008

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

scientific article

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

scientific article

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

scientific article published on September 2008

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

scientific article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

scientific article

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

scientific article published on 20 October 2006

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

scientific article

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

scientific article

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

scientific article

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

scientific article

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

scientific article published on April 2013

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

scientific article

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

scientific article published on 16 January 2014

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

scientific article published on 23 June 2007

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

FOXP1mutations cause intellectual disability and a recognizable phenotype

scientific article published on 24 September 2013

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

scientific article

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

scientific article published on 8 June 2005

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

scientific article published in November 2003

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

scientific article

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

scientific article published on 29 April 2011

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

scientific article

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

scientific article

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

scientific article

Nicolaides-Baraitser syndrome: Delineation of the phenotype

scientific article

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

scientific article

The face of Noonan syndrome: Does phenotype predict genotype

scientific article published in August 2010

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

scientific article

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

scientific article

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

scientific article

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

scientific article published on 26 May 2016

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum

scientific article published on 7 July 2011

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

scientific article published on 3 October 2013

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

scientific article published on 9 January 2018

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

scientific article published in July 2004

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

scientific article

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

scientific article

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

scientific article

List of works by Denise Horn

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Walking the interactome for prioritization of candidate disease genes

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

A restricted spectrum of NRAS mutations causes Noonan syndrome

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

FOXP1mutations cause intellectual disability and a recognizable phenotype

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

The face of Noonan syndrome: Does phenotype predict genotype

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability