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

Jagannathan V, Drögemüller C, Leeb T; Dog Biomedical Variant Database Consortium (DBVDC).

Anim Genet. 2019 Sep 5. doi: 10.1111/age.12834. [Epub ahead of print]


A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.

Gentilini F, Turba ME, Giancola F, Chiocchetti R, Bernardini C, Dajbychova M, Jagannathan V, Drögemüller M, Drögemüller C.

PLoS One. 2019 Sep 4;14(9):e0220625. doi: 10.1371/journal.pone.0220625. eCollection 2019.


NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.

Anderegg L, Im Hof Gut M, Hetzel U, Howerth EW, Leuthard F, Kyöstilä K, Lohi H, Pettitt L, Mellersh C, Minor KM, Mickelson JR, Batcher K, Bannasch D, Jagannathan V, Leeb T.

PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. eCollection 2019 Sep.


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

Letko A, Zdora I, Hitzler V, Jagannathan V, Beineke A, Möhrke C, Drögemüller C.

Anim Genet. 2019 Aug 29. doi: 10.1111/age.12843. [Epub ahead of print] No abstract available.


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

Hug P, Jude R, Henkel J, Jagannathan V, Leeb T.

Anim Genet. 2019 Aug 28. doi: 10.1111/age.12840. [Epub ahead of print]


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

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T.

Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. Epub 2019 Jul 31.


AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease.

Hug P, Anderegg L, Kehl A, Jagannathan V, Leeb T.

Genes (Basel). 2019 Jul 26;10(8). pii: E567. doi: 10.3390/genes10080567.


A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.

Hug P, Anderegg L, Dürig N, Lepori V, Jagannathan V, Spiess B, Richter M, Leeb T.

Genes (Basel). 2019 Jun 14;10(6). pii: E454. doi: 10.3390/genes10060454.


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

Hédan B, Cadieu E, Botherel N, Dufaure de Citres C, Letko A, Rimbault M, Drögemüller C, Jagannathan V, Derrien T, Schmutz S, Leeb T, André C.

Genes (Basel). 2019 May 21;10(5). pii: E386. doi: 10.3390/genes10050386.


In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes.

Vimercati S, Elli S, Jagannathan V, Pandey AV, Peduto N, Leeb T, Mevissen M.

Toxicol In Vitro. 2019 Oct;60:116-124. doi: 10.1016/j.tiv.2019.05.011. Epub 2019 May 17.


An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.

Marchant TW, Dietschi E, Rytz U, Schawalder P, Jagannathan V, Hadji Rasouliha S, Gurtner C, Waldvogel AS, Harrington RS, Drögemüller M, Kidd J, Ostrander EA, Warr A, Watson M, Argyle D, Ter Haar G, Clements DN, Leeb T, Schoenebeck JJ.

PLoS Genet. 2019 May 16;15(5):e1008102. doi: 10.1371/journal.pgen.1008102. eCollection 2019 May.


A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.

Letko A, Dietschi E, Nieburg M, Jagannathan V, Gurtner C, Oevermann A, Drögemüller C.

Genes (Basel). 2019 May 10;10(5). pii: E362. doi: 10.3390/genes10050362.


Chromosomal imbalance in pigs showing a syndromic form of cleft palate.

Grahofer A, Letko A, Häfliger IM, Jagannathan V, Ducos A, Richard O, Peter V, Nathues H, Drögemüller C.

BMC Genomics. 2019 May 8;20(1):349. doi: 10.1186/s12864-019-5711-4.


The horse Y chromosome as an informative marker for tracing sire lines.

Felkel S, Vogl C, Rigler D, Dobretsberger V, Chowdhary BP, Distl O, Fries R, Jagannathan V, Janečka JE, Leeb T, Lindgren G, McCue M, Metzger J, Neuditschko M, Rattei T, Raudsepp T, Rieder S, Rubin CJ, Schaefer R, Schlötterer C, Thaller G, Tetens J, Velie B, Brem G, Wallner B.

Sci Rep. 2019 Apr 15;9(1):6095. doi: 10.1038/s41598-019-42640-w.


ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.

Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML.

Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27.


Bald thigh syndrome in sighthounds-Revisiting the cause of a well-known disease.

Brunner MAT, Rüfenacht S, Bauer A, Erpel S, Buchs N, Braga-Lagache S, Heller M, Leeb T, Jagannathan V, Wiener DJ, Welle MM.

PLoS One. 2019 Feb 22;14(2):e0212645. doi: 10.1371/journal.pone.0212645. eCollection 2019.


Differentially expressed microRNAs, including a large microRNA cluster on chromosome 24, are associated with equine sarcoid and squamous cell carcinoma.

Bogedale K, Jagannathan V, Gerber V, Unger L.

Vet Comp Oncol. 2019 Jun;17(2):155-164. doi: 10.1111/vco.12458. Epub 2019 Feb 15.


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

Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T.

Anim Genet. 2019 Apr;50(2):172-174. doi: 10.1111/age.12762. Epub 2019 Jan 15.


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

Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, Cullen C, Feng R, Wang F, Jagannathan V, Pearce-Kelling S, Katz ML, Leeb T, Aguirre GD.

G3 (Bethesda). 2019 Feb 7;9(2):425-437. doi: 10.1534/g3.118.200859.


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

Jagannathan V, Gerber V, Rieder S, Tetens J, Thaller G, Drögemüller C, Leeb T.

Anim Genet. 2019 Feb;50(1):74-77. doi: 10.1111/age.12753. Epub 2018 Dec 7.


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

Barrientos L, Maiolini A, Häni A, Jagannathan V, Leeb T.

Anim Genet. 2019 Feb;50(1):118-119. doi: 10.1111/age.12756. Epub 2018 Dec 7. No abstract available.


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

Hofstetter S, Seefried F, Häfliger IM, Jagannathan V, Leeb T, Drögemüller C.

Anim Genet. 2019 Feb;50(1):27-32. doi: 10.1111/age.12751. Epub 2018 Dec 2.


Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression.

Unger L, Jagannathan V, Pacholewska A, Leeb T, Gerber V.

J Vet Intern Med. 2019 Jan;33(1):241-250. doi: 10.1111/jvim.15375. Epub 2018 Dec 2.


Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.

De Lucia M, Bauer A, Spycher M, Jagannathan V, Romano E, Welle M, Leeb T.

Vet Dermatol. 2019 Feb;30(1):64-e18. doi: 10.1111/vde.12699. Epub 2018 Nov 25.


A second KRT71 allele in curly coated dogs.

Bauer A, Hadji Rasouliha S, Brunner MT, Jagannathan V, Bucher I, Bannoehr J, Varjonen K, Bond R, Bergvall K, Welle MM, Roosje P, Leeb T.

Anim Genet. 2019 Feb;50(1):97-100. doi: 10.1111/age.12743. Epub 2018 Nov 15.


MicroRNA fingerprints in serum and whole blood of sarcoid-affected horses as potential non-invasive diagnostic biomarkers.

Unger L, Gerber V, Pacholewska A, Leeb T, Jagannathan V.

Vet Comp Oncol. 2019 Mar;17(1):107-117. doi: 10.1111/vco.12451. Epub 2018 Nov 28.


A COL2A1 de novo variant in a Holstein bulldog calf.

Häfliger IM, Behn H, Freick M, Jagannathan V, Drögemüller C.

Anim Genet. 2019 Feb;50(1):113-114. doi: 10.1111/age.12735. Epub 2018 Oct 31. No abstract available.


Genome-wide association study and heritability estimate for ectopic ureters in Entlebucher mountain dogs.

Gallana M, Utsunomiya YT, Dolf G, Pintor Torrecilha RB, Falbo AK, Jagannathan V, Leeb T, Reichler I, Sölkner J, Schelling C.

Anim Genet. 2018 Dec;49(6):645-650. doi: 10.1111/age.12728. Epub 2018 Oct 2.


A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.

Spycher M, Bauer A, Jagannathan V, Frizzi M, De Lucia M, Leeb T.

Anim Genet. 2018 Dec;49(6):641-644. doi: 10.1111/age.12727. Epub 2018 Sep 23.


Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.

Dürig N, Letko A, Lepori V, Hadji Rasouliha S, Loechel R, Kehl A, Hytönen MK, Lohi H, Mauri N, Dietrich J, Wiedmer M, Drögemüller M, Jagannathan V, Schmutz SM, Leeb T.

Anim Genet. 2018 Aug;49(4):284-290. doi: 10.1111/age.12660. Epub 2018 Jun 22.


Proanthocyanidins-Will they effectively restrain conspicuous bacterial strains devolving on urinary tract infection?

Jagannathan V, Viswanathan P.

J Basic Microbiol. 2018 Jul;58(7):567-578. doi: 10.1002/jobm.201800131. Epub 2018 May 18. Review.


Canine NAPEPLD-associated models of human myelin disorders.

Minor KM, Letko A, Becker D, Drögemüller M, Mandigers PJJ, Bellekom SR, Leegwater PAJ, Stassen QEM, Putschbach K, Fischer A, Flegel T, Matiasek K, Ekenstedt KJ, Furrow E, Patterson EE, Platt SR, Kelly PA, Cassidy JP, Shelton GD, Lucot K, Bannasch DL, Martineau H, Muir CF, Priestnall SL, Henke D, Oevermann A, Jagannathan V, Mickelson JR, Drögemüller C.

Sci Rep. 2018 Apr 11;8(1):5818. doi: 10.1038/s41598-018-23938-7.


MKLN1 splicing defect in dogs with lethal acrodermatitis.

Bauer A, Jagannathan V, Högler S, Richter B, McEwan NA, Thomas A, Cadieu E, André C, Hytönen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T.

PLoS Genet. 2018 Mar 22;14(3):e1007264. doi: 10.1371/journal.pgen.1007264. eCollection 2018 Mar.


A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy.

Lepori V, Mühlhause F, Sewell AC, Jagannathan V, Janzen N, Rosati M, Alves de Sousa FMM, Tschopp A, Schüpbach G, Matiasek K, Tipold A, Leeb T, Kornberg M.

G3 (Bethesda). 2018 May 4;8(5):1545-1554. doi: 10.1534/g3.118.200084.


Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals.

Bouwman AC, Daetwyler HD, Chamberlain AJ, Ponce CH, Sargolzaei M, Schenkel FS, Sahana G, Govignon-Gion A, Boitard S, Dolezal M, Pausch H, Brøndum RF, Bowman PJ, Thomsen B, Guldbrandtsen B, Lund MS, Servin B, Garrick DJ, Reecy J, Vilkki J, Bagnato A, Wang M, Hoff JL, Schnabel RD, Taylor JF, Vinkhuyzen AAE, Panitz F, Bendixen C, Holm LE, Gredler B, Hozé C, Boussaha M, Sanchez MP, Rocha D, Capitan A, Tribout T, Barbat A, Croiseau P, Drögemüller C, Jagannathan V, Vander Jagt C, Crowley JJ, Bieber A, Purfield DC, Berry DP, Emmerling R, Götz KU, Frischknecht M, Russ I, Sölkner J, Van Tassell CP, Fries R, Stothard P, Veerkamp RF, Boichard D, Goddard ME, Hayes BJ.

Nat Genet. 2018 Mar;50(3):362-367. doi: 10.1038/s41588-018-0056-5. Epub 2018 Feb 19.


A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis.

Bauer A, Nimmo J, Newman R, Brunner M, Welle MM, Jagannathan V, Leeb T.

Anim Genet. 2018 Apr;49(2):137-140. doi: 10.1111/age.12643. Epub 2018 Feb 9.


Exclusion of adrenoceptor alpha 2 variants in a horse insensitive to medetomidine.

Schmutz I, Jagannathan V, Diez Bernal S, Lanz S, Kalbfleisch T, Leeb T, Spadavecchia C.

Anim Genet. 2018 Apr;49(2):141. doi: 10.1111/age.12636. Epub 2018 Jan 23. No abstract available.


A novel MLPH variant in dogs with coat colour dilution.

Bauer A, Kehl A, Jagannathan V, Leeb T.

Anim Genet. 2018 Feb;49(1):94-97. doi: 10.1111/age.12632. Epub 2018 Jan 19.


Asian horses deepen the MSY phylogeny.

Felkel S, Vogl C, Rigler D, Jagannathan V, Leeb T, Fries R, Neuditschko M, Rieder S, Velie B, Lindgren G, Rubin CJ, Schlötterer C, Rattei T, Brem G, Wallner B.

Anim Genet. 2018 Feb;49(1):90-93. doi: 10.1111/age.12635. Epub 2018 Jan 15.


Differential Expression of Serum MicroRNAs Supports CD4⁺ T Cell Differentiation into Th2/Th17 Cells in Severe Equine Asthma.

Pacholewska A, Kraft MF, Gerber V, Jagannathan V.

Genes (Basel). 2017 Dec 12;8(12). pii: E383. doi: 10.3390/genes8120383.


Novel insights into the pathways regulating the canine hair cycle and their deregulation in alopecia X.

Brunner MAT, Jagannathan V, Waluk DP, Roosje P, Linek M, Panakova L, Leeb T, Wiener DJ, Welle MM.

PLoS One. 2017 Oct 24;12(10):e0186469. doi: 10.1371/journal.pone.0186469. eCollection 2017.


OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

Caduff M, Bauer A, Jagannathan V, Leeb T.

PLoS One. 2017 Oct 3;12(10):e0185944. doi: 10.1371/journal.pone.0185944. eCollection 2017.


Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.

Bourneuf E, Otz P, Pausch H, Jagannathan V, Michot P, Grohs C, Piton G, Ammermüller S, Deloche MC, Fritz S, Leclerc H, Péchoux C, Boukadiri A, Hozé C, Saintilan R, Créchet F, Mosca M, Segelke D, Guillaume F, Bouet S, Baur A, Vasilescu A, Genestout L, Thomas A, Allais-Bonnet A, Rocha D, Colle MA, Klopp C, Esquerré D, Wurmser C, Flisikowski K, Schwarzenbacher H, Burgstaller J, Brügmann M, Dietschi E, Rudolph N, Freick M, Barbey S, Fayolle G, Danchin-Burge C, Schibler L, Bed'Hom B, Hayes BJ, Daetwyler HD, Fries R, Boichard D, Pin D, Drögemüller C, Capitan A.

Sci Rep. 2017 Sep 13;7(1):11466. doi: 10.1038/s41598-017-11523-3.


A curated catalog of canine and equine keratin genes.

Balmer P, Bauer A, Pujar S, McGarvey KM, Welle M, Galichet A, Müller EJ, Pruitt KD, Leeb T, Jagannathan V.

PLoS One. 2017 Aug 28;12(8):e0180359. doi: 10.1371/journal.pone.0180359. eCollection 2017.


A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.

Becker D, Minor KM, Letko A, Ekenstedt KJ, Jagannathan V, Leeb T, Shelton GD, Mickelson JR, Drögemüller C.

BMC Genomics. 2017 Aug 25;18(1):662. doi: 10.1186/s12864-017-4081-z.


A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

Agerholm JS, McEvoy FJ, Heegaard S, Charlier C, Jagannathan V, Drögemüller C.

BMC Genet. 2017 Aug 2;18(1):74. doi: 10.1186/s12863-017-0541-3.


Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds.

Schaefer RJ, Schubert M, Bailey E, Bannasch DL, Barrey E, Bar-Gal GK, Brem G, Brooks SA, Distl O, Fries R, Finno CJ, Gerber V, Haase B, Jagannathan V, Kalbfleisch T, Leeb T, Lindgren G, Lopes MS, Mach N, da Câmara Machado A, MacLeod JN, McCoy A, Metzger J, Penedo C, Polani S, Rieder S, Tammen I, Tetens J, Thaller G, Verini-Supplizi A, Wade CM, Wallner B, Orlando L, Mickelson JR, McCue ME.

BMC Genomics. 2017 Jul 27;18(1):565. doi: 10.1186/s12864-017-3943-8.


A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

Bauer A, De Lucia M, Jagannathan V, Mezzalira G, Casal ML, Welle MM, Leeb T.

G3 (Bethesda). 2017 Sep 7;7(9):3115-3121. doi: 10.1534/g3.117.1124.


A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.

Caduff M, Bauer A, Jagannathan V, Leeb T.

Anim Genet. 2017 Oct;48(5):619-621. doi: 10.1111/age.12582. Epub 2017 Jul 24.


A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

Hofstetter S, Welle M, Gorgas D, Balmer P, Roosje P, Mock T, Meylan M, Jagannathan V, Drögemüller C.

Vet Dermatol. 2017 Dec;28(6):616-e150. doi: 10.1111/vde.12462. Epub 2017 Jul 2.


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