List of works - Vidhya Jagannathan

A <i>CNTNAP1</i> Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy

scientific article published on 27 November 2020

A <i>COL7A1</i> Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa

scientific article published on 04 December 2020

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism

scientific article

A COL2A1 de novo variant in a Holstein bulldog calf

scientific article published on 31 October 2018

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis

scientific article published on 24 April 2020

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

scientific article published on 25 August 2017

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

scientific article published on 02 September 2020

A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy

scientific article

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

scientific article published on 14 June 2019

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype

scientific article published on 22 July 2016

A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition

scientific article published on 14 October 2019

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

scientific article published on 05 September 2019

A curated catalog of canine and equine keratin genes.

scientific article published on 28 August 2017

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta

scientific article published on 29 August 2019

A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits

scientific article published on 15 November 2019

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

scientific article (publication date: April 2015)

A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi

scientific article published on 01 October 2019

A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation

scientific article

A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle

scientific article published on 02 December 2018

A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex

scientific article published on 13 July 2020

A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype

scientific article published on 28 August 2019

A second KRT71 allele in curly coated dogs

scientific article published on 15 November 2018

A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

scientific article

ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation

scientific article published on 28 April 2020

An Integrative miRNA-mRNA Expression Analysis Reveals Striking Transcriptomic Similarities between Severe Equine Asthma and Specific Asthma Endotypes in Humans

scientific article published on 28 September 2020

Ancient genomic changes associated with domestication of the horse

scientific article

Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor

scientific article

Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

scientific article published on 07 February 2019

Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome

scientific article published on 31 July 2019

Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses

scientific article published on 07 December 2018

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

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

scientific article

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

scientific article published on 19 October 2019

Genomic diversity and population structure of the Leonberger dog breed

scientific article published on 14 October 2020

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

scientific article published on 21 September 2019

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

scientific article published on 21 May 2019

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa

scientific article published on 07 September 2020

MKLN1 splicing defect in dogs with lethal acrodermatitis.

scientific article published on 22 March 2018

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

scientific article published on 09 July 2020

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

scientific article

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

scientific article published on 07 December 2018

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

scientific article published on 03 September 2019

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi

scientific article published on 30 October 2020

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3

scientific article published on 09 June 2020

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy

scientific article published on 16 October 2020

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes

scientific article published on 16 December 2019

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs

scientific article

TSEN54 missense variant in Standard Schnauzers with leukodystrophy

scientific article published on 04 October 2019

The LCORL Locus is under Selection in Large-Sized Pakistani Goat Breeds

scientific article published on 05 February 2020

Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis

scientific article published on 04 August 2020

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

scientific article published on 04 February 2020

Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness

scientific article published on 15 January 2019

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene

scientific article published on 08 October 2020

List of works by Vidhya Jagannathan

A <i>CNTNAP1</i> Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy

A <i>COL7A1</i> Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa

A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism

A COL2A1 de novo variant in a Holstein bulldog calf

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis

A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype

A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

A curated catalog of canine and equine keratin genes.

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta

A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform in black and tan rabbits

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease

A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi

A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation

A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle

A nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex

A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype

A second KRT71 allele in curly coated dogs

A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

ATP2A2 SINE Insertion in an Irish Terrier with Darier Disease and Associated Infundibular Cyst Formation

An Integrative miRNA-mRNA Expression Analysis Reveals Striking Transcriptomic Similarities between Severe Equine Asthma and Specific Asthma Endotypes in Humans

Ancient genomic changes associated with domestication of the horse

Comparison against 186 canid whole-genome sequences reveals survival strategies of an ancient clonally transmissible canine tumor

Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome

Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses

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

FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

Genomic diversity and population structure of the Leonberger dog breed

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa

MKLN1 splicing defect in dogs with lethal acrodermatitis.

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

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

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy

Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs

TSEN54 missense variant in Standard Schnauzers with leukodystrophy

The LCORL Locus is under Selection in Large-Sized Pakistani Goat Breeds

Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis

Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs

Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene