Simon Ramsden

Affiliations

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

Publications (6)

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

European journal of human genetics : EJHG

Avec: Shalaw R Sallah , Panagiotis I Sergouniotis , Stephanie Barton , Simon Ramsden , Rachel L Taylor , Amro Safadi , Mitra Kabir , Jamie M Ellingford , Nick Lench , Simon C Lovell , Graeme C M Black

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Journal of clinical medicine

Avec: Amy Gerrish , Benjamin Bowns , Chipo Mashayamombe-Wolfgarten , Elizabeth Young , Samantha Court , Joshua Bott , Maureen McCalla , Simon Ramsden , Michael Parks , David Goudie , Sue Carless , Samuel Clokie , Trevor Cole , Stephanie Allen

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

Human mutation

Avec: Dianalee McKnight , Lora Bean , Izabela Karbassi , Katelynn Beattie , Thierry Bienvenu , Hope Bonin , Ping Fang , John Chrisodoulou , Michael Friez , Maria Helgeson , Rahul Krishnaraj , Linyan Meng , Lindsey Mighion , Jeffrey Neul , Alan Percy , Simon Ramsden , Huda Zoghbi , Soma Das

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

European journal of medical genetics

Avec: A Redwood , S Douzgou , S Waller , S Ramsden , A Roberts , H Bonin , I C Lloyd , J Ashworth , G C M Black , J Clayton-Smith

First Aid and Voluntarism in England, 1945-85.

20 century British history

Avec: Stefan Ramsden , Rosemary Cresswell

Understanding the long-term impact of flooding on the wellbeing of residents: A mixed methods study.

PloS one

Avec: Maureen Twiddy , Brendan Trump , Samuel Ramsden

Réseau de co-auteurs

Shalaw R Sallah 1 collaboration

Panagiotis I Sergouniotis 1 collaboration

Stephanie Barton 1 collaboration

Rachel L Taylor 1 collaboration

Amro Safadi 1 collaboration

Mitra Kabir 1 collaboration

Jamie M Ellingford 1 collaboration

Nick Lench 1 collaboration

Simon C Lovell 1 collaboration

Graeme C M Black 1 collaboration

Amy Gerrish 1 collaboration

Benjamin Bowns 1 collaboration

Chipo Mashayamombe-Wolfgarten 1 collaboration

Elizabeth Young 1 collaboration

Samantha Court 1 collaboration

Joshua Bott 1 collaboration

Maureen McCalla 1 collaboration

Michael Parks 1 collaboration

David Goudie 1 collaboration

Sue Carless 1 collaboration

Samuel Clokie 1 collaboration

Trevor Cole 1 collaboration

Stephanie Allen 1 collaboration

Dianalee McKnight 1 collaboration

Lora Bean 1 collaboration

Izabela Karbassi 1 collaboration

Katelynn Beattie 1 collaboration

Thierry Bienvenu 1 collaboration

Hope Bonin 1 collaboration

Ping Fang 1 collaboration

John Chrisodoulou 1 collaboration

Michael Friez 1 collaboration

Maria Helgeson 1 collaboration

Rahul Krishnaraj 1 collaboration

Linyan Meng 1 collaboration

Lindsey Mighion 1 collaboration

Jeffrey Neul 1 collaboration

Alan Percy 1 collaboration

Huda Zoghbi 1 collaboration

Soma Das 1 collaboration

A Redwood 1 collaboration

S Douzgou 1 collaboration

S Waller 1 collaboration

S Ramsden 1 collaboration

A Roberts 1 collaboration

H Bonin 1 collaboration

I C Lloyd 1 collaboration

J Ashworth 1 collaboration

G C M Black 1 collaboration

J Clayton-Smith 1 collaboration

Stefan Ramsden 1 collaboration

Rosemary Cresswell 1 collaboration

Maureen Twiddy 1 collaboration

Brendan Trump 1 collaboration

Samuel Ramsden 1 collaboration