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References from Whole exome sequencing as a screening tool in dogs: A pilot study. Local targets link to admitted publications; unresolved targets remain external evidence.
Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1)
2014 · External reference
Exome sequencing identifies the cause of a Mendelian disorder HHS public access author manuscript
10.1038/ng.499 · 2010 · External reference
Clinical exome sequencing for genetic identification of rare mendelian disorders
2014 · External reference
Clinical Whole-exome sequencing for the diagnosis of mendelian disorders
10.1056/nejmoa1306555 · 2014 · External reference
Mutation discovery in mice by whole exome sequencing
10.1186/gb-2011-12-9-r86 · 2011 · External reference
Design and development of exome capture sequencing for the domestic pig (Sus scrofa)
10.1186/1471-2164-15-550 · 2014 · External reference
10.1038/ejhg.2016.146
10.1038/ejhg.2016.146 · External reference
10.1016/j.ajhg.2010.04.006
10.1016/j.ajhg.2010.04.006 · External reference
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy
10.1002/pd.6056 · 2022 · External reference
10.1016/j.ajhg.2019.08.009
10.1016/j.ajhg.2019.08.009 · External reference
Lumbosacral stenosis in Labrador retriever military working dogs – an exomic exploratory study
10.1186/s40575-017-0052-6 · 2017 · External reference
10.1016/j.nmd.2018.05.002
10.1016/j.nmd.2018.05.002 · External reference
A CNGB1 frameshift mutation in papillon and phalène dogs with progressive retinal atrophy
10.1371/journal.pone.0072122 · 2013 · External reference
10.1016/j.cvsm.2015.06.003
10.1016/j.cvsm.2015.06.003 · External reference
10.1038/s41431-019-0432-3
10.1038/s41431-019-0432-3 · External reference
Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs
10.1371/journal.pgen.1007361 · 2018 · External reference
Unresolved reference
External reference
10.1186/s12917-025-04495-4
10.1186/s12917-025-04495-4 · External reference
Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes
2015 · External reference
10.1093/bioinformatics/btp698
10.1093/bioinformatics/btp698 · External reference
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation
10.1167/iovs.09-5142 · 2010 · External reference
Homozygous PPT1 splice donor mutation in a cane corso dog with neuronal ceroid lipofuscinosis
10.1111/jvim.14632 · 2017 · External reference
Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs
10.1016/j.domaniend.2018.04.005 · 2018 · External reference
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism
10.1371/journal.pone.0185944 · 2017 · External reference
10.1111/age.12660
10.1111/age.12660 · External reference
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
10.1371/journal.pgen.1008659 · 2020 · External reference
A Point Mutation in a lincRNA upstream of GDNF is associated to a canine insensitivity to pain: a spontaneous model for human sensory neuropathies
10.1371/journal.pgen.1006482 · 2016 · External reference
10.1186/s12859-023-05426-6
10.1186/s12859-023-05426-6 · External reference
10.1007/s00335-004-2377-1
10.1007/s00335-004-2377-1 · External reference
MCIR studies in dogs with melanistic mask or brindle patterns
10.1093/jhered/esg014 · 2003 · External reference
10.1111/age.12010
10.1111/age.12010 · External reference
TYRP1 and MC1R genotypes and their effects on coat color in dogs
10.1007/s00335-001-2147-2 · 2002 · External reference
Melanocortin 1 receptor variation in the domestic dog
10.1007/s003350010005 · 2000 · External reference
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs
10.1093/jhered/esm021 · 2007 · External reference
Identification of the novel canine CYP1A2 1117C > T SNP causing protein deletion
10.1080/00498250412331285436 · 2004 · External reference
Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene
10.1097/00008571-200111000-00012 · 2001 · External reference
Association of missense variants in GDF9 with litter size in Entlebucher Mountain dogs
10.1111/age.12882 · 2020 · External reference
Variation of BMP3 contributes to dog breed skull diversity
10.1371/journal.pgen.1002849 · 2012 · External reference
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders
10.1242/dmm.020263 · 2016 · External reference
A cntnap1 missense variant is associated with canine laryngeal paralysis and polyneuropathy
10.3390/genes11121426 · 2020 · External reference
A COL11A2 mutation in labrador retrievers with mild disproportionate dwarfism
10.1371/journal.pone.0060149 · 2013 · External reference
10.1038/ng.224
10.1038/ng.224 · External reference
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans
10.1016/j.ygeno.2006.07.007 · 2006 · External reference
10.1016/j.nbd.2005.06.009
10.1016/j.nbd.2005.06.009 · External reference
10.1073/pnas.0812297106
10.1073/pnas.0812297106 · External reference
Two novel real-time PCR methods for genotyping the von Willebrand disease type I mutation in Doberman Pinscher dogs
10.1016/j.tvjl.2013.02.023 · 2013 · External reference
An ABCA4 loss-of-function mutation causes a canine form of stargardt disease
10.1371/journal.pgen.1007873 · 2019 · External reference
An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome
10.1371/journal.pgen.1008102 · 2019 · External reference
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis
10.1073/pnas.0914206107 · 2010 · External reference
DNA mircoarrays: types, applications and their future
10.1002/0471142727.mb2201s101 · 2013 · External reference
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data
10.1038/s41598-018-38346-0 · 2019 · External reference
Standardization of sequencing coverage depth in NGS: recommendation for detection of clonal and subclonal mutations in cancer diagnostics
10.3389/fonc.2019.00851 · 2019 · External reference
Genetic insights in canine degenerative myelopathy
10.21825/vdt.v89i5.16951 · 2020 · External reference
Breed Distribution of SOD1 alleles previously associated with canine degenerative myelopathy
10.1111/jvim.12317 · 2014 · External reference
The dog 2.0: Lessons learned from the past
10.1016/j.theriogenology.2020.01.043 · 2020 · External reference
Rules, regulations, strategies and activities within the Fédération Cynologique Internationale (FCI) to promote canine genetic health
10.1016/j.tvjl.2011.06.011 · 2011 · External reference
Guidelines for diagnostic next-generation sequencing
10.1038/ejhg.2015.226 · 2016 · External reference
10.1534/g3.115.018564
10.1534/g3.115.018564 · External reference
10.1038/nature13127
10.1038/nature13127 · External reference
10.1038/nrg3046
10.1038/nrg3046 · External reference
Carrier testing for severe childhood recessive diseases by next-generation sequencing
2011 · External reference
10.1111/nyas.12850
10.1111/nyas.12850 · External reference
Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment
10.1001/jama.2014.14601 · 2014 · External reference
Daily controlled physiotherapy increases survival time in dogs with suspected degenerative myelopathy
10.1111/j.1939-1676.2006.tb01807.x · 2006 · External reference
Pet genomics medicine runs wild
10.1038/d41586-018-05771-0 · 2018 · External reference
Mispairing C57BL/6 Substrains of Genetically Engineered Mice and Wild-Type Controls Can Lead to Confounding Results as It Did in Studies of JNK2 in Acetaminophen and Concanavalin A Liver Injury
10.1021/tx200143x · 2011 · External reference
Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
10.3390/ijms24043192 · 2023 · External reference
10.1074/jbc.273.25.15866
10.1074/jbc.273.25.15866 · External reference
Absence of dystrophin disrupts skeletal muscle signaling: Roles of Ca2+ , reactive oxygen species, and nitric oxide in the development of muscular dystrophy
10.1152/physrev.00007.2015 · 2015 · External reference
10.1016/j.ajhg.2012.08.005
10.1016/j.ajhg.2012.08.005 · External reference
10.1007/s00439-015-1631-9
10.1007/s00439-015-1631-9 · External reference
10.1038/s41576-018-0074-2
10.1038/s41576-018-0074-2 · External reference
Next generation sequencing demands next generation phenotyping
2012 · External reference
10.1111/age.70003
10.1111/age.70003 · External reference
10.3389/fvets.2024.1327081
10.3389/fvets.2024.1327081 · External reference
10.3389/fvets.2024.1497817
10.3389/fvets.2024.1497817 · External reference
