Author

Maggie H. Shepherd

Royal Devon & Exeter NHS Foundation TrustORCID 0000-0003-2660-0955Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew Tym HattersleyiD· 2 shared Kashyap Amratlal PateliD· 2 shared Kevin ColcloughiD· 2 shared Alena Stančáková· 1 shared Andrew M. SchaeferiD· 1 shared Annemarie ThaeleiD· 1 shared Boriana BüchneriD· 1 shared Catherine L FeeneyiD· 1 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew Tym HattersleyORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 18, 2022

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

Róisín M. Boggan, Yi Shiau Ng, Imogen G. Franklin…·Sarah J. Pickett

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

2 citations

humanstatistical model

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GeneticsNature CommunicationsPeer-reviewedOct 6, 2017

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Kashyap Amratlal Patel, Jarno L. T. Kettunen, Markku Laakso…·Michael N. Weedon

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.

139 citationstop 1%

humanwhole-exome sequencing

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