Publications by authors named "B Matija Peterlin"

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Borut Peterlin

Am J Hum Genet· December 2025

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Borut Peterlin

medRxiv· December 2025

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Towards clinical application of whole exome sequencing in the diagnosis of men with severely impaired spermatogenesis.
Rebeka Podgrajsek, Alenka Hodzic, Ales Maver, Martin Stimpfel, Aleksander Andjelic, Borut Peterlin

Fertil Steril· December 2025

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The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.
Rebeka Podgrajsek, Alenka Hodzic, Ales Maver, Martin Stimpfel, Aleksander Andjelic, Borut Peterlin

Reprod Biol Endocrinol· November 2025

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Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.
Aleš Maver, Peter Juvan, Urška Kotnik, Luca Lovrecic, Gaber Bergant, Borut Peterlin

Sci Rep· November 2025

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