# Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Keren Carss,Gavin Arno,Marie Erwood,Jonathan Stephens,Alba Sanchis-Juan,Sarah Hull,Karyn Mégy,Detelina Grozeva,Eleanor Dewhurst,Samantha Malka,Vincent Plagnol,Christopher J. Penkett,Kathleen Stirrups,Roberta Rizzo,Genevieve Wright,Dragana Josifova,Maria Bitner‐Glindzicz,Richard H. Scott,Emma Clement,Louise Allen,Ruth Armstrong,Angela F. Brady,Jenny Carmichael,Manali Chitre,Robert Henderson,Jane A. Hurst,Robert E. MacLaren,Elaine Murphy,Joan Paterson,Elisabeth Rosser,Dorothy Thompson,Emma Wakeling,Willem H. Ouwehand,Michel Michaelides,Anthony T. Moore,Andrew R. Webster,F. Lucy Raymond,Timothy J. Aitman,Hana Alachkar,Sonia Ali,Louise Allen,David Allsup,Gautum Ambegaonkar,Julie Anderson,Richard Antrobus,Ruth Armstrong,Gavin Arno,Gururaj Arumugakani,Sofie Ashford,William F. Astle,Antony Attwood,Steve Austin,Chiara Bacchelli,Tamam Bakchoul,Tadbir K. Bariana,Helen Baxendale,David Bennett,Claire Bethune,Shahnaz Bibi,Maria Bitner‐Glindzicz,Marta Bleda,Harm Boggard,Paula Bolton‐Maggs,Claire Booth,John R. Bradley,Angie Brady,Matthew A. Brown,Michael J. Browning,Christine Bryson,Siobhan O. Burns,Paul Calleja,Natalie Canham,Jenny Carmichael,Keren Carss,Mark J. Caulfield,Elizabeth Chalmers,Anita Chandra,Patrick F. Chinnery,Manali Chitre,Colin Church,Emma Clement,Emma Clement,Virginia Clowes,Gerry Coghlan,Peter Collins,Nichola Cooper,Amanda Creaser-Myers,Rosa DaCosta,Louise C. Daugherty,Sophie Davies,John S. Davis,Minka De Vries,Patrick Deegan,Sri V. V. Deevi,Charu Deshpande,Lisa Devlin,Eleanor Dewhurst,Rainer Döffinger,Natalie Dormand,Elizabeth Drewe |
| Citations | 490 |
| DOI | 10.1016/j.ajhg.2016.12.003 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://cris.maastrichtuniversity.nl/en/publications/45d819db-4cda-4bec-a5e0-3f66e7d815d6 |
| OpenAlex ID | https://openalex.org/W2564368426 |
| PMID | 28041643 |
| Type | article |
| Year | 2016 |

## Paper authors

- [Michel Michaelides](https://scholariq.org/researchers/michel-michaelides/)
- [Daniel P. Gale](https://scholariq.org/researchers/daniel-p-gale/)
- [Lisa Willcocks](https://scholariq.org/researchers/lisa-willcocks/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Retinal Development and Disorders](https://scholariq.org/topics/retinal-development-and-disorders/)
- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.