The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis.

Brattig-Correia R*, Almeida JM*, Wyrwoll MJ*, Julca I, Sobral D, Misra CS, Di Persio S, Guilgur LG, Schuppe HC, Silva N, Prudêncio P, Nóvoa A, Leocádio AS, Bom J, Laurentino S, Mallo M, Kliesch S, Mutwil M, Rocha LM*, Tüttelmann F*, Becker JD*, Navarro-Costa P*
Elife, October 10, 2024
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Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.

Berglund A*, Johannsen EB*, Skakkebæk A, Chang S, Rohayem J, Laurentino S, Hørlyck A, Drue SO, Bak EN, Fedder J, Tüttelmann F, Gromoll J, Just J, Gravholt CH
Biology of Sex Differences, October 8, 2024
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Genome-wide DNA methylation changes in human spermatogenesis.

Siebert-Kuss LM*, Dietrich V*, Di Persio S, Bhaskaran J, Stehling M, Cremers JF, Sandmann S, Varghese J, Kliesch S, Schlatt S, Vaquerizas JM, Neuhaus N*, Laurentino S*
The American Journal of Human Genetics, June 6, 2024
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OGRE: calculate, visualize, and analyze overlap between genomic input regions and public annotations.

Berres S, Gromoll J, Wöste M, Sandmann S, Laurentino S
BMC Bioinformatics, July 26, 2023
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Transcriptome analyses in infertile men reveal germ cell–specific expression and splicing patterns.

Siebert-Kuss LM*, Krenz H*, Tekath T, Wöste M, Di Persio S, Terwort N, Wyrwoll MJ, Cremers JF, Wistuba J, Dugas M, Kliesch S, Schlatt S, Tüttelmann F, Gromoll J, Neuhaus N*, Laurentino S*
Life Science Alliance, November 29, 2022
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Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis.

Di Persio S*, Tekath T*, Siebert-Kuss LM, Cremers JF, Wistuba J, Li X, Meyer zu Hörste G, Drexler HCA, Wyrwoll MJ, Tüttelmann F, Dugas M, Kliesch S, Schlatt S, Laurentino S*, Neuhaus N*
Cell Reports Medicine, September 9, 2021
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Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes.

Di Persio S*, Leitão E*, Wöste M, Tekath T, Cremers JF, Dugas M, Li X, Meyer zu Hörste G, Kliesch S, Laurentino S, Neuhaus N, Horsthemke B
Clinical Epigenetics, August 21, 2021
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A germ cell-specific ageing pattern in otherwise healthy men.

Laurentino S, Cremers JF, Horsthemke B, Tüttelmann F, Czeloth K, Zitzmann M, Pohl E, Rahmann S, Schröder C, Berres S, Redmann K, Krallmann C, Schlatt S, Kliesch S, Gromoll J
Aging Cell, September 20, 2020
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wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data.

Wöste M, Leitão E, Laurentino S, Horsthemke B, Rahmann S, Schröder C
BMC Bioinformatics, May 1, 2020
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High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting.

Laurentino S, Heckmann L, Di Persio S, Li X, Meyer Zu Hörste G, Wistuba J, Cremers JF, Gromoll J, Kliesch S, Schlatt S, Neuhaus N
Clinical Epigenetics, August 28, 2019
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