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Christen, Matthias; Gregor, Katharina M; Böttcher-Künneke, Ariane; Lombardo, Mara S; Baumgärtner, Wolfgang; Jagannathan, Vidhya; Puff, Christina; Leeb, Tosso (2024). Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. Animal genetics, 55, pp. 588-598. Wiley 10.1111/age.13441
Suiter, Emma; Baiker, Kerstin; Kaczmarska, Adriana; Christen, Matthias; Leeb, Tosso; Ororbia, Alejandro; Anselmi, Carlo; Minguez, Juan; Gutierrez-Quintana, Rodrigo (2024). Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy. (In Press). Veterinary radiology & ultrasound Wiley 10.1111/vru.13342
Christen, Matthias; Oevermann, Anna; Rupp, Stefan; Vaz, Frédéric M; Wever, Eric J M; Braus, Barbara K; Jagannathan, Vidhya; Kehl, Alexandra; Hytönen, Marjo K; Lohi, Hannes; Leeb, Tosso (2024). PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Molecular genetics and metabolism, 141(3), p. 108149. Elsevier 10.1016/j.ymgme.2024.108149
Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7
Rawson, Faye; Christen, Matthias; Rose, Jeremy; Paran, Emilie; Leeb, Tosso; Fadda, Angela (2024). Polioencephalopathy in Eurasier dogs. Journal of veterinary internal medicine, 38(1), pp. 277-284. Wiley 10.1111/jvim.16945
Bannasch, Danika L; Oertle, Danielle T; Vo, Julia; Batcher, Kevin L; Stern, Joshua A; Kaplan, Joanna L; Li, Ronald H L; Madden, Indiana E; Christen, Matthias; Leeb, Tosso; Joshi, Nikhil (2023). Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever. Scientific Reports, 13(1), p. 19077. Nature Publishing Group 10.1038/s41598-023-46601-2
Christen, Matthias; Zdora, Isabel; Leschnik, Michael; Jagannathan, Vidhya; Puff, Christina; Hünerfauth, Enrice; Volk, Holger A; Baumgärtner, Wolfgang; Koch, Tessa C; Schäfer, Wencke; Kleiter, Miriam; Leeb, Tosso (2023). RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia. Genes, 14(8) MDPI 10.3390/genes14081520
Christen, Matthias; Gutierrez-Quintana, Rodrigo; Green, Matthew; Faller, Kiterie M E; Lowrie, Mark; Rusbridge, Clare; Bossens, Kenny; Mellersh, Cathryn; Pettitt, Louise; Heinonen, Tiina; Lohi, Hannes; Jagannathan, Vidhya; Leeb, Tosso (2023). A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Movement disorders, 38(6), pp. 1094-1099. Wiley 10.1002/mds.29391
Lourdes Frehner, Bianca; Christen, Matthias; Reichler, Iris M; Jagannathan, Vidhya; Novacco, Marilisa; Riond, Barbara; Peters, Laureen M; Suárez Sánchez-Andrade, José; Pieńkowska-Schelling, Aldona; Schelling, Claude; Kipar, Anja; Leeb, Tosso; Balogh, Orsolya (2023). Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS genetics, 19(6), e1010805. Public Library of Science 10.1371/journal.pgen.1010805
Gutierrez-Quintana, Rodrigo; Christen, Matthias; Faller, Kiterie M E; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso (2023). Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". Journal of veterinary internal medicine, 37(3), p. 793. Wiley 10.1111/jvim.16707
Christen, Matthias; Gonzalo-Nadal, Veronica; Kaczmarska, Adriana; Dyrka, Magdalena; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso; Gutierrez-Quintana, Rodrigo (2023). A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions. Journal of veterinary internal medicine, 37(2), pp. 676-680. Wiley 10.1111/jvim.16675
Gutierrez-Quintana, Rodrigo; Christen, Matthias; Faller, Kiterie M E; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso (2023). SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. Journal of veterinary internal medicine, 37(1), pp. 230-235. Wiley 10.1111/jvim.16610
Hilton, Stephanie; Christen, Matthias; Bilzer, Thomas; Jagannathan, Vidhya; Leeb, Tosso; Giger, Urs (2023). Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy. International journal of molecular sciences, 24(4), p. 3192. MDPI 10.3390/ijms24043192
Christen, Matthias; Ludwig-Peisker, Odette; Jagannathan, Vidhya; Hetzel, Udo; Schönball, Ulrike; Leeb, Tosso (2023). STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Animal genetics, 54(3), pp. 412-415. Wiley 10.1111/age.13306
Dell'Apa, Diletta; Fumeo, Martina; Volta, Antonella; Bernardini, Marco; Fidanzio, Francesca; Buffagni, Valentina; Christen, Matthias; Jagannathan, Vidhya; Leeb, Tosso; Bianchi, Ezio (2023). Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome. Frontiers in veterinary science, 10, p. 1201484. Frontiers Media 10.3389/fvets.2023.1201484
Christen, Matthias; Gutierrez-Quintana, Rodrigo; Vandenberghe, Helene; Kaczmarska, Adriana; Penderis, Jacques; José-López, Roberto; Rupp, Angie; Griffiths, Ian R; Jagannathan, Vidhya; Leeb, Tosso (2022). Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy. Animal genetics, 53(6), pp. 814-820. Wiley 10.1111/age.13263
Jacinto, Joana G P; Häfliger, Irene M; Christen, Matthias; Paris, Julia M; Seefried, Franz R; Drögemüller, Cord (2022). Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf? Animal genetics, 53(4), pp. 530-531. Wiley 10.1111/age.13207
Rudd Garces, Gabriela; Christen, Matthias; Loechel, Robert; Jagannathan, Vidhya; Leeb, Tosso (2022). FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract. Genes, 13(2), p. 334. MDPI 10.3390/genes13020334
Christen, Matthias; Rupp, Stefan; Van Soens, Iris; Bhatti, Sofie F. M.; Matiasek, Kaspar; von Klopmann, Thilo; Jagannathan, Vidhya; Madden, Indiana; Batcher, Kevin; Bannasch, Danika; Leeb, Tosso (2022). SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC). Genes, 13(7), p. 1223. MDPI 10.3390/genes13071223
Østergård Jensen, Sarah; Christen, Matthias; Rondahl, Veronica; Holland, Christopher T.; Jagannathan, Vidhya; Leeb, Tosso; Giger, Urs (2022). EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes, 13(9), p. 1533. MDPI 10.3390/genes13091533
Christen, Matthias; Bongers, Jos; Mathis, Déborah; Jagannathan, Vidya; Quintana, Rodrigo Gutierrez; Leeb, Tosso (2022). ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Genes, 13(10), p. 1847. MDPI 10.3390/genes13101847
Christen, Matthias; Reineking, Wencke; Beineke, Andreas; Jagannathan, Vidhya; Baumgärtner, Wolfgang; Leeb, Tosso (2021). Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A). Animal genetics, 52(6), pp. 900-902. Wiley 10.1111/age.13146
Christen, Matthias; Högler, Sandra; Kleiter, Miriam; Leschnik, Michael; Weber, Corinna; Thaller, Denise; Jagannathan, Vidya; Leeb, Tosso (2021). Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS genetics, 17(8), e1009716. Public Library of Science 10.1371/journal.pgen.1009716
Christen, Matthias; Janzen, Nils; Fraser, Anne; Sewell, Adrian C.; Jagannathan, Vidhya; Guevar, Julien; Leeb, Tosso; Sanchez-Masian, Daniel (2021). L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria. Genes, 12(5), p. 682. MDPI 10.3390/genes12050682
Christen, Matthias; de le Roi, Madeleine; Jagannathan, Vidhya; Becker, Kathrin; Leeb, Tosso (2021). MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1. Genes, 12(10), p. 1479. MDPI 10.3390/genes12101479
Christen, Matthias; Booij-Vrieling, Henriëtte; Oksa-Minalto, Jelena; de Vries, Cynthia; Kehl, Alexandra; Jagannathan, Vidhya; Leeb, Tosso (2021). MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes, 12(10), p. 1497. MDPI 10.3390/genes12101497
Christen, Matthias; Indzhova, Victoria; Guo, Ling T.; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G. Diane; Brocal, Josep (2021). LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy. Genes, 12(11), p. 1823. MDPI 10.3390/genes12111823
Christen, Matthias; Austel, Michaela; Banovic, Frane; Jagannathan, Vidhya; Leeb, Tosso (2020). NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. Genes, 11(11) MDPI 10.3390/genes11111297
