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Open Access
Peer-reviewed
Research Article
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort
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Gioia Quarantani,
Roles Data curation, Formal analysis, Methodology, Validation, Visualization
Affiliation Genome-Phenome Relationship Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy
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Anna Sorgente,
Roles Data curation, Formal analysis, Methodology, Writing – original draft
Affiliation Genome-Phenome Relationship Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy
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Massimo Alfano,
Roles Data curation, Resources, Visualization
Affiliation Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy
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Giovanni Battista Pipitone,
Roles Methodology, Supervision
Affiliation Genomics for Human Disease Diagnosis Unit and Lab of Clinical Genomics, IRCCS Ospedale San Raffaele, Milan, Italy
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Luca Boeri,
Roles Methodology, Resources
Affiliations Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy, Department of Urology, Foundation IRCCS Ca’ Granda–Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Edoardo Pozzi,
Roles Methodology, Resources
Affiliation Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy
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Federico Belladelli,
Roles Methodology, Resources
Affiliation Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy
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Filippo Pederzoli,
Roles Methodology, Resources
Affiliation Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy
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Anna Maria Ferrara,
Roles Methodology, Resources
Affiliation Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy
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Francesco Montorsi,
Roles Resources
Affiliations Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy, Vita-Salute San Raffaele University, Milan, Italy
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Anna Moles,
Roles Formal analysis, Supervision, Writing – original draft
Affiliation CNR Institute of Biochemistry and Cell Biology, Rome, Italy
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Paola Carrera,
Roles Data curation, Investigation, Supervision
Affiliation Genomics for Human Disease Diagnosis Unit and Lab of Clinical Genomics, IRCCS Ospedale San Raffaele, Milan, Italy
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Andrea Salonia,
Roles Data curation, Funding acquisition, Writing – original draft
Affiliations Division of Experimental Oncology/Unit of Urology, URI, IRCCS Ospedale San Raffaele, Milan, Italy, Vita-Salute San Raffaele University, Milan, Italy
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Giorgio Casari
Roles Conceptualization, Formal analysis, Investigation, Supervision, Writing – original draft
* E-mail: casari.giorgio@hsr.it
Affiliations Genome-Phenome Relationship Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy, Vita-Salute San Raffaele University, Milan, Italy
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Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort
- Gioia Quarantani,
- Anna Sorgente,
- Massimo Alfano,
- Giovanni Battista Pipitone,
- Luca Boeri,
- Edoardo Pozzi,
- Federico Belladelli,
- Filippo Pederzoli,
- Anna Maria Ferrara,
- Francesco Montorsi
- Published: August 4, 2023
- https://doi.org/10.1371/journal.pone.0288336