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A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern.

Küttel L, Letko A, Häfliger IM, Signer-Hasler H, Joller S, Hirsbrunner G, Mészáros G, Sölkner J, Flury C, Leeb T, Drögemüller C.

Anim Genet. 2019 Jul 11. doi: 10.1111/age.12821. [Epub ahead of print]


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.


Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs.

Batcher K, Dickinson P, Giuffrida M, Sturges B, Vernau K, Knipe M, Rasouliha SH, Drögemüller C, Leeb T, Maciejczyk K, Jenkins CA, Mellersh C, Bannasch D.

Genes (Basel). 2019 Jun 7;10(6). pii: E435. doi: 10.3390/genes10060435.


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.


Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.

Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS.

Genes (Basel). 2019 May 21;10(5). pii: E385. doi: 10.3390/genes10050385.


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 May 17;60:116-124. doi: 10.1016/j.tiv.2019.05.011. [Epub ahead of print]


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.


Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses.

Gmel AI, Druml T, von Niederhäusern R, Leeb T, Neuditschko M.

Genes (Basel). 2019 May 14;10(5). pii: E370. doi: 10.3390/genes10050370.


X-linked cutaneous mosaicism in a dog.

De Lucia M, Angileri M, Bauer A, Spycher M, Jaggannathan V, Denti D, Di Diodoro F, Ferro S, Mezzalira G, Welle M, Leeb T.

Vet Dermatol. 2019 Aug;30(4):361-362. doi: 10.1111/vde.12748. Epub 2019 Apr 22. No abstract available.


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.


Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.

Burger B, Spoerri I, Imahorn E, Wariwoda H, Leeb T, Itin PH.

Br J Dermatol. 2019 Apr 9. doi: 10.1111/bjd.17997. [Epub ahead of print]


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.


Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Brenig B, Steingräber L, Shan S, Xu F, Hirschfeld M, Andag R, Spengeler M, Dietschi E, Mischke R, Leeb T.

Haematologica. 2019 Mar 7. pii: haematol.2018.215426. doi: 10.3324/haematol.2018.215426. [Epub ahead of print]


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.


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.


Generation of an equine biobank to be used for Functional Annotation of Animal Genomes project.

Burns EN, Bordbari MH, Mienaltowski MJ, Affolter VK, Barro MV, Gianino F, Gianino G, Giulotto E, Kalbfleisch TS, Katzman SA, Lassaline M, Leeb T, Mack M, Müller EJ, MacLeod JN, Ming-Whitfield B, Alanis CR, Raudsepp T, Scott E, Vig S, Zhou H, Petersen JL, Bellone RR, Finno CJ.

Anim Genet. 2018 Dec;49(6):564-570. doi: 10.1111/age.12717. Epub 2018 Oct 11.


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 EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.

Hadji Rasouliha S, Bauer A, Dettwiler M, Welle MM, Leeb T.

Anim Genet. 2018 Dec;49(6):651-654. doi: 10.1111/age.12729. 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.


eQTL discovery and their association with severe equine asthma in European Warmblood horses.

Mason VC, Schaefer RJ, McCue ME, Leeb T, Gerber V.

BMC Genomics. 2018 Aug 2;19(1):581. doi: 10.1186/s12864-018-4938-9.


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.


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.


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.


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.


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.


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 genome-wide association study for equine recurrent airway obstruction in European Warmblood horses reveals a suggestive new quantitative trait locus on chromosome 13.

Schnider D, Rieder S, Leeb T, Gerber V, Neuditschko M.

Anim Genet. 2017 Dec;48(6):691-693. doi: 10.1111/age.12583. Epub 2017 Jul 24.


Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions.

Wallner B, Palmieri N, Vogl C, Rigler D, Bozlak E, Druml T, Jagannathan V, Leeb T, Fries R, Tetens J, Thaller G, Metzger J, Distl O, Lindgren G, Rubin CJ, Andersson L, Schaefer R, McCue M, Neuditschko M, Rieder S, Schlötterer C, Brem G.

Curr Biol. 2017 Jul 10;27(13):2029-2035.e5. doi: 10.1016/j.cub.2017.05.086. Epub 2017 Jun 29.


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

Awasthi Mishra N, Drögemüller C, Jagannathan V, Keller I, Wüthrich D, Bruggmann R, Beck J, Schütz E, Brenig B, Demmel S, Moser S, Signer-Hasler H, Pieńkowska-Schelling A, Schelling C, Sande M, Rongen R, Rieder S, Kelsh RN, Mercader N, Leeb T.

PLoS One. 2017 Jun 28;12(6):e0180170. doi: 10.1371/journal.pone.0180170. eCollection 2017.


A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

Mauri N, Kleiter M, Dietschi E, Leschnik M, Högler S, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T.

G3 (Bethesda). 2017 Aug 7;7(8):2729-2737. doi: 10.1534/g3.117.043018.


Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation.

Syrjä P, Anwar T, Jokinen T, Kyöstilä K, Jäderlund KH, Cozzi F, Rohdin C, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Sukura A, Leeb T, Lohi H, Eskelinen EL.

Vet Pathol. 2017 Nov;54(6):953-963. doi: 10.1177/0300985817712793. Epub 2017 Jun 6.


Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2.

Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, Kuehn D, Svenson K, Bermingham ML, Drögemüller M, Nussbaumer M, Davey MG, Argyle DJ, Powell RM, Guilherme S, Lang J, Ter Haar G, Leeb T, Schwarz T, Mellanby RJ, Clements DN, Schoenebeck JJ.

Curr Biol. 2017 Jun 5;27(11):1573-1584.e6. doi: 10.1016/j.cub.2017.04.057. Epub 2017 May 25.


Identification of key contributors in complex population structures.

Neuditschko M, Raadsma HW, Khatkar MS, Jonas E, Steinig EJ, Flury C, Signer-Hasler H, Frischknecht M, von Niederhäusern R, Leeb T, Rieder S.

PLoS One. 2017 May 16;12(5):e0177638. doi: 10.1371/journal.pone.0177638. eCollection 2017.

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