Search Results - "Forman, Oliver"

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs by Donner, Jonas, Anderson, Heidi, Davison, Stephen, Hughes, Angela M, Bouirmane, Julia, Lindqvist, Johan, Lytle, Katherine M, Ganesan, Balasubramanian, Ottka, Claudia, Ruotanen, Päivi, Kaukonen, Maria, Forman, Oliver P, Fretwell, Neale, Cole, Cynthia A, Lohi, Hannes

“…Knowledge on the genetic epidemiology of disorders in the dog population has implications for both veterinary medicine and sustainable breeding. Limited data…”
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Large scale across-breed genome-wide association study reveals a variant in HMGA2 associated with inguinal cryptorchidism risk in dogs by Blades, Matthew, Freyer, Jamie, Donner, Jonas, Chodroff Foran, Rebecca, Forman, Oliver P

“…Cryptorchidism is the most common congenital sex development disorder in dogs. Despite this, little progress has been made in understanding its genetic…”
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Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs by Donner, Jonas, Freyer, Jamie, Davison, Stephen, Anderson, Heidi, Blades, Matthew, Honkanen, Leena, Inman, Laura, Brookhart-Knox, Casey A, Louviere, Annette, Forman, Oliver P, Chodroff Foran, Rebecca

“…Hundreds of genetic variants implicated in Mendelian disease have been characterized in dogs and commercial screening is being offered for most of them…”
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A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 by Forman, Oliver P, Pettitt, Louise, Komáromy, András M, Bedford, Peter, Mellersh, Cathryn

“…Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive…”
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Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed by Forman, Oliver P, De Risio, Luisa, Mellersh, Cathryn S

“…Spinocerebellar ataxia (SCA) in the Parson Russell Terrier (PRT) dog breed is a disease of progressive incoordination of gait and loss of balance. Clinical…”
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Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog by Oliver, James A C, Forman, Oliver P, Pettitt, Louise, Mellersh, Cathryn S

“…Mutations in ADAMTS10 (CFA20) have previously been associated with primary open angle glaucoma (POAG) in the Beagle and Norwegian Elkhound. The closely related…”
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A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia by Heinonen, Tiina, Flegel, Thomas, Müller, Hanna, Kehl, Alexandra, Hundi, Sruthi, Matiasek, Kaspar, Fischer, Andrea, Donner, Jonas, Forman, Oliver P., Lohi, Hannes, Hytönen, Marjo K.

“…Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or acoustic stimuli. In this study, we…”
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A new Finnish flavor of feline coat coloration, “salmiak,” is associated with a 95‐kb deletion downstream of the KIT gene by Anderson, Heidi, Salonen, Milla, Toivola, Sari, Blades, Matthew, Lyons, Leslie A., Forman, Oliver P., Hytönen, Marjo K., Lohi, Hannes

“…Cats with a distinctive white hair pattern of unknown molecular cause have been discovered in the Finnish domestic cat population. Based on the unique…”
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Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed by Forman, Oliver P, Penderis, Jacques, Hartley, Claudia, Hayward, Louisa J, Ricketts, Sally L, Mellersh, Cathryn S

“…The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as…”
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Ageing-associated DNA methylation dynamics are a molecular readout of lifespan variation among mammalian species by Lowe, Robert, Barton, Carl, Jenkins, Christopher A, Ernst, Christina, Forman, Oliver, Fernandez-Twinn, Denise S, Bock, Christoph, Rossiter, Stephen J, Faulkes, Chris G, Ozanne, Susan E, Walter, Lutz, Odom, Duncan T, Mellersh, Cathryn, Rakyan, Vardhman K

“…Mammalian species exhibit a wide range of lifespans. To date, a robust and dynamic molecular readout of these lifespan differences has not yet been identified…”
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Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats by Anderson, Heidi, Davison, Stephen, Lytle, Katherine M, Honkanen, Leena, Freyer, Jamie, Mathlin, Julia, Kyöstilä, Kaisa, Inman, Laura, Louviere, Annette, Chodroff Foran, Rebecca, Forman, Oliver P, Lohi, Hannes, Donner, Jonas

“…In the largest DNA-based study of domestic cats to date, 11,036 individuals (10,419 pedigreed cats and 617 non-pedigreed cats) were genotyped via commercial…”
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Exonic Short Interspersed Nuclear Element Insertion in FAM161A Is Associated with Autosomal Recessive Progressive Retinal Atrophy in the English Shepherd by Stanbury, Katherine, Schofield, Ellen C, McLaughlin, Bryan, Forman, Oliver P, Mellersh, Cathryn S

“…Progressive retinal atrophies (PRAs) are a genetically heterogeneous group of inherited eye diseases that affect over 100 breeds of dog. The initial clinical…”
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Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration by Forman, Oliver P., Hitti, Rebekkah J., Boursnell, Mike, Miyadera, Keiko, Sargan, David, Mellersh, Cathryn

“…Retinal degeneration (RD) in the Miniature Long Haired Dachshund (MLHD) is a cone-rod dystrophy resulting in eventual blindness in affected individuals. In a…”
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An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs by Everson, Richard, Pettitt, Louise, Forman, Oliver P, Dower-Tylee, Olivia, McLaughlin, Bryan, Ahonen, Saija, Kaukonen, Maria, Komáromy, András M, Lohi, Hannes, Mellersh, Cathryn S, Sansom, Jane, Ricketts, Sally L

“…The domestic dog segregates a significant number of inherited progressive retinal diseases, several of which mirror human retinal diseases and which are…”
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Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs by Donner, Jonas, Anderson, Heidi, Davison, Stephen, Hughes, Angela M, Bouirmane, Julia, Lindqvist, Johan, Lytle, Katherine M, Ganesan, Balasubramanian, Ottka, Claudia, Ruotanen, Päivi, Kaukonen, Maria, Forman, Oliver P, Fretwell, Neale, Cole, Cynthia A, Lohi, Hannes

“…[This corrects the article DOI: 10.1371/journal.pgen.1007361.]…”
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Defining the ABC of gene essentiality in streptococci by Charbonneau, Amelia R L, Forman, Oliver P, Cain, Amy K, Newland, Graham, Robinson, Carl, Boursnell, Mike, Parkhill, Julian, Leigh, James A, Maskell, Duncan J, Waller, Andrew S

“…Utilising next generation sequencing to interrogate saturated bacterial mutant libraries provides unprecedented information for the assignment of genome-wide…”
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Association of FGF4L1 Retrogene Insertion with Prolapsed Gland of the Nictitans (Cherry Eye) in Dogs by Freyer, Jamie, Labadie, Julia D, Huff, Jason T, Denyer, Michael, Forman, Oliver P, Chodroff Foran, Rebecca, Donner, Jonas

“…Cherry eye is the common name for prolapse of the nictitans gland, a tear-producing gland situated under the third eyelid of dogs. Cherry eye is characterized…”
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Correction: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog by Oliver, James A C, Forman, Oliver P, Pettitt, Louise, Mellersh, Cathryn S

“…[This corrects the article DOI: 10.1371/journal.pone.0140436.]…”
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Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1 by Forman, Oliver P, De Risio, Luisa, Matiasek, Kaspar, Platt, Simon, Mellersh, Cathryn

“…Spinocerebellar ataxia in the Italian Spinone dog breed is characterised by a progressive gait abnormality that manifests from approximately 4 months of age…”
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Mining the 99 Lives Cat Genome Sequencing Consortium database implicates genes and variants for the Ticked locus in domestic cats (Felis catus) by Lyons, L. A., Buckley, R. M., Harvey, R. J., Abitbol, Marie, Aberdein, Danielle, Alves, Paulo C., Ohlsson Andersson, Asa, Bellone, Rebecca R., Bergström, Tomas F., Bilgen, Nuket, Boyko, Adam R., Brockman, Jeffrey A., Casal, Margret L., Castelhano, Marta G., Davis, Brian W., Davison, Lucy, Distl, Ottmar, Dodman, Nicholas H., Ellinwood, N. Matthew, Fogle, Jonathan E., Forman, Oliver P., Garrick, Dorian J., Ginns, Edward I., Häggström, Jens, Hasegawa, Daisuke, Haase, Bianca, Jagannathan, Vidhya, Lait, Philippa, Hernandez, Isabel, Hytönen, Marjo K., Kaukonen, Maria, Kosho, Tomoki, Leclerc, Emilie, Lear, Teri L., Leeb, Tosso, Li, Ronald H.L., Lohi, Hannes, Longeri, Maria, Magnuson, Mark A., Malik, Richard, Mane, Shrinivasrao P., Middleton, Rondo, Munday, John S., Murphy, William J., Myers, Alexandra N., Pedersen, Niels C., Peterson‐Jones, Simon M., Rothschild, Max F., Rusbridge, Clare, Schoenebeck, Jeffrey J., Shapiro, Beth, Stern, Joshua A., Swanson, William F., Terio, Karen A., Todhunter, Rory J., Warren, Wesley C., Wilcox, Elizabeth A., Wildschutte, Julia H., Yu, Yoshihiko

“…Summary Tabby patterns of fur coats are defining characteristics in wild and domestic felids. Historically, three autosomal alleles at one locus (Tabby):…”
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