Author

John G. Torpiano

Mater Dei HospitalORCID 0000-0002-8348-464XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Alyssa Julia Jennifer PaganoniiD· 1 shared Anna Maria CariboniiD· 1 shared Antonella LettieriiD· 1 shared Daniel Field· 1 shared Danielle WhittakeriD· 1 shared GOSgene· 1 shared Hywel J. WilliamsiD· 1 shared Iain C. A. F. RobinsoniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alyssa Julia Jennifer PaganoniORCID

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1 paper

Recent·Most cited

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

Danielle Whittaker, Roberto Oleari, Louise Cheryl Gregory, Polona Le Quesne Stabej, Hywel J. Williams, GOSgene, John G. Torpiano, Nancy Formosa, Mario J. Cachia, Daniel Field, Antonella Lettieri, Louise Ocaka, Alyssa Julia Jennifer Paganoni, Sakina Rajabali, Kimberley L. H. Riegman, , Mehul Dattani

This study identifies a recessive PRDM13 mutation causing congenital hypogonadotropic hypogonadism and cerebellar hypoplasia through mouse models and human expression analysis.

Journal of Clinical Investigation · Nov 3, 2021Peer-reviewedGenetic & Genomic Medicine