Search filters

List of works by Hubert Pausch

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

scientific article published on 20 July 2020

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

scientific article

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

scientific article

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

scientific article published on 31 March 2016

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

scientific article published on 25 May 2016

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

scientific article published on 16 February 2016

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

scientific article published on 22 July 2014

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

scientific article (publication date: 2014)

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

scientific article published in December 2016

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

scientific article

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

scientific article published on 15 May 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

scientific article published on 10 October 2017

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

scientific article

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

scientific article published in 2022

Classic selective sweeps revealed by massive sequencing in cattle

scientific article

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

scientific article

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

scientific article

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

scientific article published on 18 March 2016

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

scientific article published in October 2015

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

scientific article published on 17 January 2017

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

scientific article published on 25 September 2020

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

scientific article

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

scientific article published on 21 February 2017

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

scientific article published on 8 November 2010

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

scientific article published on 15 March 2012

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

scientific article published on 29 December 2017

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

scientific article

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

scientific article published in 2012

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

scientific article (publication date: 2012)

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

scientific article published in November 2016

Imputation of high-density genotypes in the Fleckvieh cattle population

scientific article published on 13 February 2013

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

scientific article

Maternal placenta modulates a deleterious fetal mutation

scientific article

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

scientific article published on 19 February 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.

scientific article published on 9 November 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.

scientific article published on 10 April 2018

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

scientific article published on 7 November 2013

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

scientific article published on 5 November 2015

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

scientific article published on 26 December 2017

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

scientific article published on 26 July 2017

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

scientific article published on 13 September 2017

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

scientific article published on 16 April 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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 13 July 2014

Paulina is supported by:

About Paulina

Help