Works by Friedenberg, Steven

Results: 42

Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants.

Published in:

Animal Genetics, 2022, v. 53, n. 5, p. 706, doi. 10.1111/age.13241

By:

Kinsey, Nathan A.;
Belanger, Janelle M.;
Oberbauer, Anita M.;
Aguirre, Gustavo;
André, Catherine;
Bannasch, Danika;
Becker, Doreen;
Davis, Brian;
Drögemüller, Cord;
Ekenstedt, Kari;
Faller, Kiterie;
Forman, Oliver;
Friedenberg, Steven;
Furrow, Eva;
Giger, Urs;
Hitte, Christophe;
Hytönen, Marjo;
Jagannathan, Vidhya;
Leeb, Tosso;
Lingaas, Frode

Publication type:

Article

Development and application of a next-generation sequencing protocol and bioinformatics pipeline for the comprehensive analysis of the canine immunoglobulin repertoire.

Published in:

PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0270710

By:

Cullen, Jonah N.;
Martin, Jolyon;
Vilella, Albert J.;
Treeful, Amy;
Sargan, David;
Bradley, Allan;
Friedenberg, Steven G.

Publication type:

Article

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.

Published in:

Skeletal Muscle, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13395-020-00257-y

By:

Mickelson, James R.;
Minor, Katie M.;
Guo, Ling T.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Ciavarella, Amanda;
Hambrook, Lydia E.;
Brenner, Karen M.;
Helmond, Sarah E.;
Marks, Stanley L.;
Shelton, G. Diane

Publication type:

Article

RNA sequencing of whole blood in dogs with primary immune-mediated hemolytic anemia (IMHA) reveals novel insights into disease pathogenesis.

Published in:

PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240975

By:

Borchert, Corie;
Herman, Adam;
Roth, Megan;
Brooks, Aimee C.;
Friedenberg, Steven G.

Publication type:

Article

The S-Measurement in the Diagnosis of Canine Hip Dysplasia.

Published in:

Veterinary Surgery, 2012, v. 41, n. 1, p. 78, doi. 10.1111/j.1532-950X.2011.00874.x

By:

Ogden, Daniel M.;
Scrivani, Peter V.;
Dykes, Nathan;
Lust, George;
Friedenberg, Steven G.;
Todhunter, Rory J.

Publication type:

Article

A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia.

Published in:

Journal of Fungi, 2024, v. 10, n. 3, p. 198, doi. 10.3390/jof10030198

By:

Coffey, Emily L.;
Ma, Liang;
Cissé, Ousmane H.;
Kovacs, Joseph A.;
Minor, Katie M.;
Sukura, Antti;
Danesi, Patrizia;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Weissenbacher-Lang, Christiane;
Nadeau, Julie C.;
Graham, Amber M.;
Granick, Martin N.;
Branson, Natalie K.;
Branson, Kyle C.;
Blasi, Barbara;
Jacobs, Casandra M.;
Furrow, Eva

Publication type:

Article

Red cell distribution width is a predictor of all‐cause mortality in hospitalized dogs.

Published in:

Journal of Veterinary Emergency & Critical Care, 2022, v. 32, n. 1, p. 9, doi. 10.1111/vec.13109

By:

Ludwik, Tasia M.;
Heinrich, Daniel A.;
Rendahl, Aaron;
Friedenberg, Steven G.

Publication type:

Article

Use of a vascular closure device during percutaneous arterial access in a dog with impaired hemostasis.

Published in:

Journal of Veterinary Emergency & Critical Care, 2017, v. 27, n. 4, p. 465, doi. 10.1111/vec.12614

By:

Scansen, Brian A.;
Hokanson, Caitlin M.;
Friedenberg, Steven G.;
Khabiri, Hooman

Publication type:

Article

Splenic vasculitis, thrombosis, and infarction in a febrile dog infected with Bartonella henselae.

Published in:

Journal of Veterinary Emergency & Critical Care, 2015, v. 25, n. 6, p. 789, doi. 10.1111/vec.12367

By:

Friedenberg, Steven G.;
Balakrishnan, Nandhakumar;
Guillaumin, Julien;
Cooper, Edward S.;
Lewis, Kristin;
Russell, Duncan S.;
Breitschwerdt, Edward B.

Publication type:

Article

Successful treatment of a dog with massive 5-fluorouracil toxicosis.

Published in:

Journal of Veterinary Emergency & Critical Care, 2013, v. 23, n. 6, p. 643, doi. 10.1111/vec.12116

By:

Friedenberg, Steven G.;
Brooks, Aimee C.;
Monnig, Andrea A.;
Cooper, Edward S.

Publication type:

Article

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement.

Published in:

Veterinary Dermatology, 2021, v. 32, n. 4, p. 379, doi. 10.1111/vde.12972

By:

Herrmann, Ina;
Linder, Keith E.;
Meurs, Kathryn M.;
Friedenberg, Steven G.;
Cullen, Jonah;
Olby, Natasha;
Bizikova, Petra

Publication type:

Article

An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.

Published in:

G3: Genes | Genomes | Genetics, 2022, v. 12, n. 11, p. 1, doi. 10.1093/g3journal/jkac227

By:

Batcher, Kevin;
Varney, Scarlett;
Affolter, Verena K.;
Friedenberg, Steven G.;
Bannasch, Danika

Publication type:

Article

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Published in:

Genes, 2023, v. 14, n. 8, p. 1557, doi. 10.3390/genes14081557

By:

Shelton, G. Diane;
Minor, Katie M.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Guo, Ling T.;
Mickelson, James R.

Publication type:

Article

An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates.

Published in:

2022

By:

Shelton, G. Diane;
Minor, Katie M.;
Guo, Ling T.;
Thomas-Hollands, Alison;
Walsh, Koranda A.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Mickelson, James R.

Publication type:

Case Study

Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus.

Published in:

Genes, 2021, v. 12, n. 12, p. 1964, doi. 10.3390/genes12121964

By:

Letko, Anna;
Minor, Katie M.;
Norton, Elaine M.;
Marinescu, Voichita D.;
Drögemüller, Michaela;
Ivansson, Emma;
Megquier, Kate;
Noh, Hyun Ji;
Starkey, Mike;
Friedenberg, Steven G.;
Lindblad-Toh, Kerstin;
Mickelson, James R.;
Drögemüller, Cord

Publication type:

Article

Special Issue "Molecular Basis of Inherited Diseases in Companion Animals".

Published in:

2021

By:

Friedenberg, Steven G.;
Bannasch, Danika L.

Publication type:

Editorial

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

Published in:

Genes, 2020, v. 11, n. 12, p. 1426, doi. 10.3390/genes11121426

By:

Letko, Anna;
Minor, Katie M.;
Friedenberg, Steven G.;
Shelton, G. Diane;
Salvador, Jill Pesayco;
Mandigers, Paul J. J.;
Leegwater, Peter A. J.;
Winkler, Paige A.;
Petersen-Jones, Simon M.;
Stanley, Bryden J.;
Ekenstedt, Kari J.;
Johnson, Gary S.;
Hansen, Liz;
Jagannathan, Vidhya;
Mickelson, James R.;
Drögemüller, Cord

Publication type:

Article

A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog.

Published in:

Genes, 2019, v. 10, n. 2, p. 168, doi. 10.3390/genes10020168

By:

Meurs, Kathryn M.;
Friedenberg, Steven G.;
Olby, Natasha J.;
Condit, Julia;
Weidman, Jess;
Rosenthal, Steve;
Shelton, G. Diane

Publication type:

Article

Familial Narcolepsy in Dogo Argentino Dogs Is Caused by a Tandem Duplication Mutation in HCRTR2.

Published in:

Journal of Veterinary Internal Medicine, 2025, v. 39, n. 2, p. 1, doi. 10.1111/jvim.70056

By:

Mondino, Alejandra;
Vandewege, Michael W.;
Artigas, Rody;
Delucchi, Luis;
Hermida, Karen M.;
Yanez, Camila E.;
Cullen, Jonah N.;
Friedenberg, Steven G.;
Meurs, Kathryn M.;
Stern, Joshua A.;
Olby, Natasha J.

Publication type:

Article

A case‐control survey study of environmental risk factors for primary hypoadrenocorticism in dogs.

Published in:

Journal of Veterinary Internal Medicine, 2023, v. 37, n. 6, p. 2073, doi. 10.1111/jvim.16896

By:

Treeful, Amy E.;
Searle, Kelly M.;
Carroll, Dana M.;
Yost, Kathleen J.;
Hedger, Anna L.;
Friedenberg, Steven G.

Publication type:

Article

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy.

Published in:

2023

By:

Jankelunas, Leanne;
Murthy, Vishal D.;
Chen, Annie V.;
Minor, Katie M.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Guo, Ling T.;
Mickelson, James R.;
Shelton, G. Diane

Publication type:

Case Study

Targeted sequencing of candidate gene regions for myelofibrosis in dogs.

Published in:

Journal of Veterinary Internal Medicine, 2022, v. 36, n. 4, p. 1237, doi. 10.1111/jvim.16476

By:

Campbell, Amelia G.;
Seelig, Davis M.;
Beckman, Joan D.;
Minor, Katie M.;
Heinrich, Daniel A.;
Friedenberg, Steven G.;
Modiano, Jaime F.;
Furrow, Eva

Publication type:

Article

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

Published in:

Journal of Veterinary Internal Medicine, 2022, v. 36, n. 4, p. 1454, doi. 10.1111/jvim.16471

By:

Woelfel, Christian;
Meurs, Kathryn;
Friedenberg, Steven;
DeBruyne, Nicole;
Olby, Natasha J.

Publication type:

Article

A scoping review of autoantibodies as biomarkers for canine autoimmune disease.

Published in:

Journal of Veterinary Internal Medicine, 2022, v. 36, n. 2, p. 363, doi. 10.1111/jvim.16392

By:

Treeful, Amy E.;
Coffey, Emily L.;
Friedenberg, Steven G.

Publication type:

Article

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.

Published in:

2022

By:

Shelton, G. Diane;
Minor, Katie M.;
Thomovsky, Stephanie;
Guo, Ling T.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Mickelson, James R.

Publication type:

Case Study

A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections.

Published in:

Journal of Veterinary Internal Medicine, 2021, v. 35, n. 3, p. 1542, doi. 10.1111/jvim.16100

By:

Hedgespeth, Barry A.;
Birkenheuer, Adam J.;
Friedenberg, Steven G.;
Olby, Natasha J.;
Meurs, Kathryn M.

Publication type:

Article

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 3, p. 986, doi. 10.1111/jvim.15073

By:

Friedenberg, Steven G.;
Vansteenkiste, Daniella;
Yost, Oriana;
Treeful, Amy E.;
Meurs, Kathryn M.;
Tokarz, Debra A.;
Olby, Natasha J.

Publication type:

Article

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the <italic>PTPRQ</italic> gene.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 2, p. 665, doi. 10.1111/jvim.15060

By:

Guevar, Julien;
Olby, Natasha J.;
Meurs, Kathryn M.;
Yost, Oriana;
Friedenberg, Steven G.

Publication type:

Article

A defect in the NOG gene increases susceptibility to spontaneous superficial chronic corneal epithelial defects (SCCED) in boxer dogs.

Published in:

BMC Veterinary Research, 2021, v. 17, n. 1, p. 1, doi. 10.1186/s12917-021-02955-1

By:

Meurs, Kathryn M.;
Montgomery, Keith;
Friedenberg, Steven G.;
Williams, Brian;
Gilger, Brian C.

Publication type:

Article

Successful Surgical Correction of a Mesenteric Volvulus with Concurrent Foreign Body Obstruction in Two Puppies.

Published in:

Journal of the American Animal Hospital Association, 2017, v. 53, n. 6, p. 297, doi. 10.5326/JAAHA-MS-6468

By:

Jones, Susan;
Friedenberg, Steven G.;
Callard, Jason;
Abernathy, Leslie;
Guillaumin, Julien

Publication type:

Article

Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1563, doi. 10.1007/s00439-021-02297-w

By:

Williams, Brian;
Friedenberg, Steven G.;
Keene, Bruce W.;
Tou, Sandy P.;
DeFrancesco, Teresa C.;
Meurs, Kathryn M.

Publication type:

Article

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 515, doi. 10.1007/s00439-019-01973-2

By:

Meurs, Kathryn M.;
Friedenberg, Steven G.;
Kolb, Justin;
Saripalli, Chandra;
Tonino, Paola;
Woodruff, Kathleen;
Olby, Natasha J.;
Keene, Bruce W.;
Adin, Darcy B.;
Yost, Oriana L.;
DeFrancesco, Teresa C.;
Lahmers, Sunshine;
Tou, Sandra;
Shelton, G. Diane;
Granzier, Henk

Publication type:

Article

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs.

Published in:

Animals (2076-2615), 2024, v. 14, n. 5, p. 722, doi. 10.3390/ani14050722

By:

Shelton, G. Diane;
Mickelson, James R.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Graham, Karina;
Carpentier, Missy C.;
Guo, Ling T.;
Minor, Katie M.

Publication type:

Article

DLA class II haplotypes show sex-specific associations with primary hypoadrenocorticism in Standard Poodle dogs.

Published in:

Immunogenetics, 2019, v. 71, n. 5/6, p. 373, doi. 10.1007/s00251-019-01113-0

By:

Treeful, Amy E.;
Rendahl, Aaron K.;
Friedenberg, Steven G.

Publication type:

Article

Evaluation of a DLA-79 allele associated with multiple immune-mediated diseases in dogs.

Published in:

Immunogenetics, 2016, v. 68, n. 3, p. 205, doi. 10.1007/s00251-015-0894-6

By:

Friedenberg, Steven;
Buhrman, Greg;
Chdid, Lhoucine;
Olby, Natasha;
Olivry, Thierry;
Guillaumin, Julien;
O'Toole, Theresa;
Goggs, Robert;
Kennedy, Lorna;
Rose, Robert;
Meurs, Kathryn

Publication type:

Article

Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine.

Published in:

Genes, 2024, v. 15, n. 12, p. 1561, doi. 10.3390/genes15121561

By:

Furrow, Eva;
Peralta, Jade A.;
Moore, A Russell;
Minor, Katie M.;
Guerrero, Candace;
Hemmila, Charlotte R.;
DiCiccio, Victoria;
Cullen, Jonah N.;
Friedenberg, Steven G.;
Giger, Urs

Publication type:

Article

Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia.

Published in:

Genes, 2024, v. 15, n. 2, p. 193, doi. 10.3390/genes15020193

By:

Tate, Nicole M.;
Underwood, Michaela;
Thomas-Hollands, Alison;
Minor, Katie M.;
Cullen, Jonah N.;
Friedenberg, Steven G.;
Mickelson, James R.;
Xenoulis, Panagiotis G.;
Steiner, Joerg M.;
Furrow, Eva

Publication type:

Article

GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.

Published in:

Mammalian Genome, 2023, v. 34, n. 3, p. 464, doi. 10.1007/s00335-023-09991-2

By:

Bell, Sarah M.;
Evans, Jacquelyn M.;
Greif, Elizabeth A.;
Tsai, Kate L.;
Friedenberg, Steven G.;
Clark, Leigh Anne

Publication type:

Article

Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing.

Published in:

Mammalian Genome, 2017, v. 28, n. 1/2, p. 56, doi. 10.1007/s00335-016-9671-6

By:

Friedenberg, Steven;
Lunn, Katharine;
Meurs, Kathryn

Publication type:

Article

Evaluation of artificial selection in Standard Poodles using whole-genome sequencing.

Published in:

Mammalian Genome, 2016, v. 27, n. 11/12, p. 599, doi. 10.1007/s00335-016-9660-9

By:

Friedenberg, Steven;
Meurs, Kathryn;
Mackay, Trudy

Publication type:

Article

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.

Published in:

2021

By:

Meurs, Kathryn M.;
Williams, Brian G.;
DeProspero, Dylan;
Friedenberg, Steven G.;
Malarkey, David E.;
Ezzell, J. Ashley;
Keene, Bruce W.;
Adin, Darcy B.;
DeFrancesco, Teresa C.;
Tou, Sandra

Publication type:

journal article

Genomic analyses in Cavalier King Charles spaniels identify loci associated with clinical signs of Chiari-like malformation and Syringomyelia.

Published in:

BMC Veterinary Research, 2025, p. 1, doi. 10.1186/s12917-025-04754-4

By:

Sparks, Courtney R.;
Cullen, Jonah N.;
Vandewege, Michael W.;
Leber, Meghan;
Minor, Katie M.;
Friedenberg, Steven G.;
Olby, Natasha J.

Publication type:

Article