Author

Mirjam Spengeler

University of Bern

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Organism:bacteria (other)· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Hermann SchwarzenbacheriD· 2 shared Hubert PauschiD· 2 shared Maya HiltpoldiD· 2 shared Naveen Kumar KadriiD· 2 shared Ulrich WitschiiD· 2 shared Zih‐Hua FangiD· 2 shared Angelika SchniekeiD· 1 shared Bertram BrenigiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetics

Hermann SchwarzenbacherORCID

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3 papers

Recent·Most cited

A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

Maya Hiltpold, Fredi Janett, Xena Marie Mapel, Naveen Kumar Kadri, Zih‐Hua Fang, Hermann Schwarzenbacher, Franz R. Seefried, Mirjam Spengeler, Ulrich Witschi, Hubert Pausch

The paper identifies a 1-bp deletion in QRICH2 as a recessive cause of low sperm count and immotile sperm with morphological abnormalities in Brown Swiss bulls.

Genetics Selection Evolution · Mar 7, 2022Peer-reviewedGenetics

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

Maya Hiltpold, Guanglin Niu, Naveen Kumar Kadri, Danang Crysnanto, Zih‐Hua Fang, Mirjam Spengeler, Fritz Schmitz-Hsu, C. Fuerst, Hermann Schwarzenbacher, Franz R Seefried, Frauke Seehusen, Ulrich Witschi, Angelika Schnieke, Ruedi Fries, Heiner Bollwein, , Hubert Pausch

The paper identifies a recessive allele in WDR19 associated with reduced semen quality and male fertility in cattle, showing it activates cryptic splicing and reduces protein expression.

PLOS Genetics · May 14, 2020Peer-reviewedGenomics

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter

Bertram Brenig, Lilith Steingräber, Shuwen Shan, Fangzheng Xu, Marc Hirschfeld, Reiner Andag, Mirjam Spengeler, Elisabeth Dietschi, Reinhard H. Mischke, Tosso Leeb

The paper identifies a single nucleotide deletion in the F9 gene promoter of a Hovawart family causing hemophilia B resembling human hemophilia B Leyden, with reduced factor IX expression and altered transcription factor binding.

Haematologica · Mar 7, 2019Peer-reviewedGenetics