Lista de obras - Hubert Pausch - Dominio Público Uruguay

A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

artículo científico publicado en 2020

A comprehensive study of the genomic differentiation between temperate Dent and Flint maize

artículo científico publicado en 2016

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

artículo científico publicado en 2016

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

artículo científico publicado en 2016

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

artículo científico publicado en 2016

A multi-trait meta-analysis with imputed sequence variants reveals twelve QTL for mammary gland morphology in Fleckvieh cattle

artículo científico publicado en 2016

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

artículo científico publicado en 2014

A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle

artículo científico publicado en 2014

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

artículo científico publicado en 2016

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

artículo científico publicado en 2014

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

scientific article published on 11 April 2019

Accurate sequence variant genotyping in cattle using variation-aware genome graphs

artículo científico publicado en 2019

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

scientific article published on 14 May 2020

Altered microRNA profiles during early colon adenoma progression in a porcine model of familial adenomatous polyposis

artículo científico publicado en 2017

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

artículo científico publicado en 2013

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

artículo científico publicado en 2022

Classic selective sweeps revealed by massive sequencing in cattle

artículo científico publicado en 2014

Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).

artículo científico publicado en 2016

Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken

artículo científico publicado en 2015

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

artículo científico publicado en 2016

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

artículo científico publicado en 2015

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

artículo científico publicado en 2017

Deletion of porcine BOLL is associated with defective acrosomes and subfertility in Yorkshire boars

artículo científico publicado en 2020

Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)

artículo científico publicado en 2013

Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle

artículo científico publicado en 2017

Genome-wide association study identifies two major loci affecting calving ease and growth-related traits in cattle

artículo científico publicado en 2010

Genome-wide association study uncovers four QTL predisposing to supernumerary teats in cattle

artículo científico publicado en 2012

Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle

artículo científico publicado en 2017

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

artículo científico publicado en 2015

Identification and dissection of four major QTL affecting milk fat content in the German Holstein-Friesian population

artículo científico publicado en 2012

Identification of QTL for UV-protective eye area pigmentation in cattle by progeny phenotyping and genome-wide association analysis

artículo científico publicado en 2012

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle

artículo científico publicado en 2016

Imputation of high-density genotypes in the Fleckvieh cattle population

artículo científico publicado en 2013

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

artículo científico publicado en 2014

Maternal placenta modulates a deleterious fetal mutation

artículo científico publicado en 2017

Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals

artículo científico publicado en 2018

Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution.

artículo científico publicado en 2017

Multi-trait meta-analyses reveal 25 quantitative trait loci for economically important traits in Brown Swiss cattle

scientific article published on 03 September 2019

Novel insights into Sabino1 and splashed white coat color patterns in horses.

artículo científico publicado en 2018

On the limited increase in validation reliability using high-density genotypes in genomic best linear unbiased prediction: observations from Fleckvieh cattle

artículo científico publicado en 2013

PEG3 domain gene expression in maternal and foetal placenta in intrauterine growth restricted bovine foetuses

artículo científico publicado en 2015

Population networks associated with runs of homozygosity reveal new insights into the breeding history of the Haflinger horse

artículo científico publicado en 2017

Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression

artículo científico publicado en 2017

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

artículo científico publicado en 2017

Short communication: Validation of 4 candidate causative trait variants in 2 cattle breeds using targeted sequence imputation

artículo científico publicado en 2015

Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies

scientific article published on 31 May 2022

The effect of mislabeled phenotypic status on the identification of mutation-carriers from SNP genotypes in dairy cattle.

artículo científico publicado en 2017

Use of SNP genotypes to identify carriers of harmful recessive mutations in cattle populations.

artículo científico publicado en 2016

Usefulness of multiparental populations of maize (Zea mays L.) for genome-based prediction

artículo científico publicado en 2014

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

artículo científico publicado en 2014

Lista de obras de Hubert Pausch

A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

A comprehensive study of the genomic differentiation between temperate Dent and Flint maize

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

A multi-trait meta-analysis with imputed sequence variants reveals twelve QTL for mammary gland morphology in Fleckvieh cattle

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

Accurate sequence variant genotyping in cattle using variation-aware genome graphs

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

Altered microRNA profiles during early colon adenoma progression in a porcine model of familial adenomatous polyposis

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

Bull fertility and semen quality are not correlated with dairy and production traits in Brown Swiss cattle

Classic selective sweeps revealed by massive sequencing in cattle

Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).

Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development

Deletion of porcine BOLL is associated with defective acrosomes and subfertility in Yorkshire boars

Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)

Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle

Genome-wide association study identifies two major loci affecting calving ease and growth-related traits in cattle

Genome-wide association study uncovers four QTL predisposing to supernumerary teats in cattle

Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

Identification and dissection of four major QTL affecting milk fat content in the German Holstein-Friesian population

Identification of QTL for UV-protective eye area pigmentation in cattle by progeny phenotyping and genome-wide association analysis

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle

Imputation of high-density genotypes in the Fleckvieh cattle population

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

Maternal placenta modulates a deleterious fetal mutation

Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals

Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution.

Multi-trait meta-analyses reveal 25 quantitative trait loci for economically important traits in Brown Swiss cattle

Novel insights into Sabino1 and splashed white coat color patterns in horses.

On the limited increase in validation reliability using high-density genotypes in genomic best linear unbiased prediction: observations from Fleckvieh cattle

PEG3 domain gene expression in maternal and foetal placenta in intrauterine growth restricted bovine foetuses

Population networks associated with runs of homozygosity reveal new insights into the breeding history of the Haflinger horse

Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

Short communication: Validation of 4 candidate causative trait variants in 2 cattle breeds using targeted sequence imputation

Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies

The effect of mislabeled phenotypic status on the identification of mutation-carriers from SNP genotypes in dairy cattle.

Use of SNP genotypes to identify carriers of harmful recessive mutations in cattle populations.

Usefulness of multiparental populations of maize (Zea mays L.) for genome-based prediction

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle