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Simon A Rock

3PUBLICATIONS

11CO-AUTHORS

Medical genetics (excl. cancer genetics)Cancer geneticsGenetic immunology

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Publications (3)

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|Oct 23, 2022

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Laura A Devlin, Janice Coles, Claire L Jackson

|Jan 24, 2021

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom

|Dec 28, 2019

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Simon A Ramsbottom, Peter E Thelwall, Katrina M Wood

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Frequent Collaborators

3 joint publications

John A Sayer

2 joint publications

Miguel Barroso-Gil

2 joint publications

Eric Olinger

1 joint publications

Helena L Spiewak

1 joint publications

Elisa Molinari

1 joint publications

Laura A Devlin

1 joint publications

N Simon Thomas

1 joint publications

James Thompson

1 joint publications

Heather J Cordell

1 joint publications

Gabrielle Wheway

Frequent Collaborators

3 joint publications

John A Sayer

2 joint publications

Miguel Barroso-Gil

2 joint publications

Eric Olinger

1 joint publications

Helena L Spiewak

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