Author

Mario J. Cachia

Mater Dei Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alyssa Julia Jennifer PaganoniORCID

Mutual co-authors in cluster

Author profile →

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