Author

Kevin R. McEleny

Newcastle upon Tyne Hospitals NHS Foundation TrustORCID 0000-0001-9827-8139Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexandra Manuel LopesiD· 2 shared Corinna FriedrichiD· 2 shared Donald F. ConradiD· 2 shared Filipa CarvalhoiD· 2 shared Frank TüttelmanniD· 2 shared Godfried W. van der HeijdeniD· 2 shared João GonçalvesiD· 2 shared Joris Andre VeltmaniD· 2 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Alexandra Manuel LopesORCID

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2 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedJan 10, 2022

A de novo paradigm for male infertility

Manon S. Oud, RM Smits, H E Smith…·Joris Andre Veltman

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

98 citationstop 1%

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 15, 2020

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

Margot Julia Wyrwoll, Şehime Gülsün Temel, Liina Nagirnaja…·Frank Tüttelmann

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.

104 citationstop 1%

humanmouse

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