Selected Publications

Keller SH, Johnson GS, Bullock G, Mhlanga-Mutangadura T, Schwartz M, Pattridge SG, Guo J, Kortz GD, Katz ML.  Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.  Genes 15:246, 2024.

Bullock G, Johnson GS, Pattridge SG, Mhlanga-Mutangadura T, Guo J, Cook J, Campbell RS, Vite CH, Katz ML.  A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.  Genes 14:1746, 2023.

Jaffey, J.A.; Bullock, G.; Guo, J.; Mhlanga-Mutangadura, T.; O’Brien, D.P.; Coates, J.R.; Morrissey, R.; Hutchison, R.; Donnelly, K.S.; Cohn, L.A. Katz, M.L.; Johnson, G.S.  Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome. Genes 13:2158, 2022.

Bullock G, Johnson, GS, Mhlanga-Mutangadura T, Petesch SC, Thompson S, Goebbels S, Katz ML.  Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. Gene 830:146513, 2022.

Whitacre LK, Wildhaber ML, Johnson GS, Durbin HJ, Rowan TN, Tribe P, Schnabel RD, Mhlanga-Mutangadura T, Tabor VM, Fenner D, Decker JE.  Exploring genetic variation and population structure in a threatened species, Noturus placidus, with whole-genome sequence data.  G3 Genes – Genomes – Genetics. 12(4), 04 0 4, 2022.

St Jean SC, Jortner BS, Doan RN, Dindot SV, Johnson GS, Bullock G, Whitley DB, Levine JM, Hancock SK, Ambrus A, Porter BF.  Pathologic characterization of canine multiple system degeneration in the Ibizan hound. Veterinary Pathology. 59(1):132-137, 2022.

Leach SB, Briggs M, Hansen L, Johnson  GS.  Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. Journal of Veterinary Cardiology. 40:119-125, 2022.

Edwards RJ, Field MA, Ferguson JM, Dudchenko O, Keilwagen J, Rosen BD, Johnson GS, Rice ES, Hillier D, Hammond JM, Towarnicki SG, Omer A, Khan R, Skvortsova K, Bogdanovic O, Zammit RA, Aiden EL, Warren WC, Ballard JWO.  Chromosome-length genome assembly and structural variations of the primal Basenji dog (Canis lupus familiaris) genome. BMC Genomics. 22(1):188, 2021.

Letko A, Minor KM, Friedenberg SG, Shelton GD, Salvador JP, Mandigers PJJ, Leegwater PAJ, Winkler PA, Petersen-Jones SM, Stanley BJ, Ekenstedt KJ, Johnson GS, Hansen L, Jagannathan V, Mickelson JR, Drogemuller C . A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. Genes (Basel). 11(12):27, 2020.

Jaffey JA, Reading NS, Abdulmalik O, Kreisler R, Bullock G, Wiest A, Villani NA, Mhlanga-Mutangadura T, Johnson GS, Cohn LA, Isaza N, Harvey JW, Giger U . Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b₅ reductase deficiency in 30 dogs.  Scientific Reports. 10(1):21399, 2020.

Abrams SR, Hawks AL, Evans JM, Famula TR, Mahaffey M, Johnson GS, Mason JM, Clark LA. Variants in FtsJ RNA 2′-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs. Proceedings of the National Academy of Sciences of the United States of America. 117(40):24929-24935, 2020.

Guo J, Johnson GS, Cook J, Harris OK, Mhlanga-Mutangadura T, Schnabel RD, Jensen CA, Katz ML.  Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.  Molec Genet Metabol Reports 21:100521, 2019.

Villani NA, Bullock G, Michaels JR, Yamato O, O’Brien DP, Mhlanga-Mutangadura T, Johnson GS, Katz ML.  A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for aCLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.  Molec Genet Metabol  127:107-115, 2019.

Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS . A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Animal Genetics. 50(5):543-545, 2019.