Author
Universidade do PortoORCID 0000-0001-9546-4614Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Liina Nagirnaja, Alexandra Manuel Lopes, Wu‐Lin Charng…·Donald F. Conrad
This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.
Manon S. Oud, RM Smits, H E Smith…·Joris Andre Veltman
The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.
Margot Julia Wyrwoll, Şehime Gülsün Temel, Liina Nagirnaja…·Frank Tüttelmann
The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.