Search filters

List of works by Denise Horn

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

scientific article published on 23 June 2015

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

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

scientific article published on 12 July 2008

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

scientific article

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

scientific article

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

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

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

scientific article

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome

scientific article published on 04 June 2020

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

scientific article published on 22 January 2016

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing

scientific article published on 04 February 2010

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

scientific article published on November 2012

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype

scientific article

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

scientific article published in April 2018

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

scientific article published on 9 June 2016

Baller–Gerold Syndrome

human disease

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

scientific article published on 25 July 2017

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

scientific article

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

scientific article published on 22 May 2019

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

scientific article published on 17 June 2016

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

scientific article

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

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

scientific article published on 9 January 2018

Childhood overgrowth in patients with common NF1 microdeletions

scientific article published in July 2005

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

scientific article published on 01 July 2005

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

scientific article published on 9 December 2014

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

scientific article

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

scientific article published on 5 April 2013

Combining callers improves the detection of copy number variants from whole-genome sequencing

scientific article published on 08 November 2021

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

scientific article

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

scientific article published in November 2017

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

scientific article

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

scientific article

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

scientific article published on 18 July 2019

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

scientific article

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

scientific journal article

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

scientific article published on 6 January 2016

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

scientific article published on 6 December 2011

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

scientific article

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

scientific article published on 22 October 2020

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

scholarly article published in Nature Genetics

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

scientific article

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

scientific article

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

scientific article

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

scientific article published on February 2009

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

scientific article

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

scientific article

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

scientific article published on 22 December 2017

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

scientific article published on 20 October 2006

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies

scientific article published on 19 June 2015

FOXP1mutations cause intellectual disability and a recognizable phenotype

scientific article published on 24 September 2013

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease

scientific article published on 01 January 2004

Familial Gordon syndrome associated with a PIEZO2 mutation

scientific article published on 7 October 2016

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region

scientific article published in March 2003

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

scientific article published on 10 January 2019

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

scientific article published on 29 January 2016

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance

scientific article

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

scientific article published on 23 August 2018

Genome sequencing in families with congenital limb malformations

scientific article published on 22 June 2021

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

scientific article published on 3 October 2012

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

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

scientific article

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

scientific article published on 23 July 2020

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

scientific article published on 10 February 2022

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

scientific article

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

scientific article

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

scientific article published on 25 July 2019

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

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

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome

scientific article published on 18 January 2010

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

scientific article published on 7 July 2011

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

scientific article

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

scientific article

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

scientific article

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

scientific article

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

scientific article published on 17 February 2011

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

scientific article

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

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

scientific article

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

article published in 2015

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

scientific article

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

scientific article published on 12 June 2017

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

scientific article

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

scientific article published in November 2003

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

scientific article published on 16 January 2014

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

scientific article

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

scientific article published on 25 July 2019

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

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

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

Neonatal manifestation of multiple sulfatase deficiency

scientific article published on 10 December 2008

Nicolaides-Baraitser syndrome: Delineation of the phenotype

scientific article

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

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

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

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

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

scientific article published on April 2013

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

scientific article published on 25 January 2019

Phenotypes and genotypes in individuals with SMC1A variants.

scientific article published on 26 May 2017

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 ⬇️

scientific article

Pigmentary mosaicism of the hyperpigmented type in two half-brothers

scientific article published in September 2002

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

scientific article published on 15 June 2019

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

article

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

scientific article

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

scientific article published on 27 April 2016

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

scientific article

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

scientific article published on 24 April 2019

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

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

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

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

scientific article

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

scientific article

The face of Noonan syndrome: Does phenotype predict genotype.

scientific article published in August 2010

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

Walking the interactome for prioritization of candidate disease genes

scientific article published on 27 March 2008

Paulina is supported by:

About Paulina

Help