List of works - Irene Monika Häfliger

A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis

scientific article published on 14 December 2020

A COL2A1 de novo variant in a Holstein bulldog calf

scientific article published on 31 October 2018

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome

scientific article published on 30 October 2020

A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern

scientific article published on 11 July 2019

A de novo germline mutation of KIT in a white-spotted Brown Swiss cow

scientific article published on 17 February 2020

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex

scientific article published on 02 November 2020

A de novo variant in OTX2 in a lamb with otocephaly

scientific article published on 22 January 2020

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

scientific article published on 02 October 2021

A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep

scientific article published on 16 January 2020

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

publication published on 19 November 2021

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

scientific article published on 07 September 2020

A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle

scientific article published on 03 July 2021

A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle

scientific article published on 02 December 2018

APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease

scientific article published on 18 June 2019

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis

scientific article published on 30 September 2019

Chromosomal imbalance in pigs showing a syndromic form of cleft palate

scientific article published on 08 May 2019

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

scientific article published on 06 November 2020

Constitutional trisomy 20 in an aborted Holstein fetus with pulmonary hypoplasia and anasarca syndrome

scientific article published on 02 October 2020

De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull

scientific article published on 02 April 2020

Ear type in sheep is associated with the MSRB3 locus

scientific article published on 17 August 2020

Genome-wide association study between copy number variants and hoof health traits in Holstein dairy cattle

scientific article published in 2021

High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data

scientific article published on 15 May 2020

Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome

scientific article published on 18 February 2020

Identification of two TYRP1 loss-of-function alleles in Valais Red sheep

scientific article published on 01 October 2019

Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?

scientific article published on 06 January 2020

Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success