List of works - Meharji Arumilli

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy

scientific article published on 28 August 2013

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

scientific article published in Scientific Reports

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 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

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

scientific article published in Scientific Reports

Association study reveals novel risk loci for sporadic inclusion body myositis.

scientific article

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

scientific article published in Scientific Reports

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

scientific article published on 15 March 2019

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Dog colour patterns explained by modular promoters of ancient canid origin

scientific article published on 12 August 2021

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

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

scientific article

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

scientific article published on 18 June 2015

Increased expression of MERTK is associated with a unique form of canine retinopathy

scientific article published on 17 December 2014

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

scientific article published in 2021

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

scientific article

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

scientific article

Novel protective and risk loci in hip dysplasia in German Shepherds

scientific article published on 19 July 2019

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

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

scientific article published on 25 November 2015

List of works by Meharji Arumilli

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

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 putative silencer variant in a spontaneous canine model of retinitis pigmentosa

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

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

Association study reveals novel risk loci for sporadic inclusion body myositis.

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

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

Copy number variation analysis increases the diagnostic yield in muscle diseases

Dog colour patterns explained by modular promoters of ancient canid origin

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

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

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

Increased expression of MERTK is associated with a unique form of canine retinopathy

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

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

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

Novel protective and risk loci in hip dysplasia in German Shepherds

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

Targeted next-generation sequencing assay for detection of mutations in primary myopathies