List of works - Marjo K Hytönen

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

scientific article published on 29 March 2019

A mutation in hairless dogs implicates FOXI3 in ectodermal development

scientific article

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

scientific article

A novel KRT71 variant in curly-coated dogs

scientific article published on 19 November 2018

A novel genomic region on chromosome 11 associated with fearfulness in dogs

scientific article published on 28 May 2020

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

scientific article published on 09 March 2020

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

scientific article

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds

scientific article published on 14 October 2008

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

scientific article published in Scientific Reports

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

scientific article published in Scientific Reports

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

scientific article published on 18 February 2021

Canine MPV17 truncation without clinical manifestations

scientific article published on 9 September 2015

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

scientific article published on 15 March 2019

Canine models of human rare disorders

scientific article published on 28 September 2016

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion

scientific article

Dog colour patterns explained by modular promoters of ancient canid origin

scientific article published on 12 August 2021

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

scientific article published on 11 July 2017

Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes

scientific article published on 9 April 2013

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

scientific article

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

scientific article published on 16 September 2016

MKLN1 splicing defect in dogs with lethal acrodermatitis.

scientific article published on 22 March 2018

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

scientific article published in May 2018

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

scientific article

Myotonia congenita in a Labrador Retriever with truncated CLCN1

scientific article published in July 2018

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

scientific article

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

scientific article published on 22 August 2019

Novel protective and risk loci in hip dysplasia in German Shepherds

scientific article published on 19 July 2019

Out of southern East Asia: the natural history of domestic dogs across the world

scientific article published in January 2016

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

scientific article published on 09 March 2020

Toxoplasma gondii seroprevalence varies by cat breed

scientific article published on 8 September 2017

Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies

scientific article

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

scientific article published on 04 February 2020

List of works by Marjo K Hytönen

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

A mutation in hairless dogs implicates FOXI3 in ectodermal development

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

A novel KRT71 variant in curly-coated dogs

A novel genomic region on chromosome 11 associated with fearfulness in dogs

A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

Canine MPV17 truncation without clinical manifestations

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Canine models of human rare disorders

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion

Dog colour patterns explained by modular promoters of ancient canid origin

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Expression of Foxi3 is regulated by ectodysplasin in skin appendage placodes

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

MKLN1 splicing defect in dogs with lethal acrodermatitis.

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

Myotonia congenita in a Labrador Retriever with truncated CLCN1

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

Novel Locus Associated with Symmetrical Lupoid Onychodystrophy in the Bearded Collie

Novel protective and risk loci in hip dysplasia in German Shepherds

Out of southern East Asia: the natural history of domestic dogs across the world

Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Toxoplasma gondii seroprevalence varies by cat breed

Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs