Alexandra M. Lopes

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Csilla Krausz, Antoni Riera‐Escamilla, Daniel Moreno‐Mendoza et al. · Genetics in Medicine · 2020 · 164 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

Alexandra M. Lopes, Kenneth I. Aston, Emma E. Thompson et al. · PLoS Genetics · 2013 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

Laura Kasak, Margus Punab, Liina Nagirnaja et al. · The American Journal of Human Genetics · 2018 · 132 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Margot J. Wyrwoll, Şehime Gülsün Temel, Liina Nagirnaja et al. · The American Journal of Human Genetics · 2020 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Variant <i>PNLDC1</i> , Defective piRNA Processing, and Azoospermia

Liina Nagirnaja, Nina Mørup, John Nielsen et al. · New England Journal of Medicine · 2021 · 99 citations · Full text

Life Sciences, Genetics, Molecular Biology +14