# Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/discovery-of-four-recessive-developmental-disorders-using-probabilistic-genotype/

## Facts

| Field | Value |
| --- | --- |
| Author Names | the DDD study,Nadia Akawi,Jeremy F. McRae,Morad Ansari,Meena Balasubramanian,Moira Blyth,Angela F. Brady,Stephen Clayton,Trevor Cole,Charu Deshpande,Tomas Fitzgerald,Nicola Foulds,Richard Francis,George C. Gabriel,Sebastian S. Gerety,Judith Goodship,Emma Hobson,Wendy D. Jones,Shelagh Joss,Daniel A. King,Nikolai Klena,Ajith Kumar,Melissa Lees,Chris Lelliott,Jenny Lord,Dominic McMullan,Mary O’Regan,Deborah Osio,Virginia Piombo,Elena Prigmore,Diana Rajan,Elisabeth Rosser,Alejandro Sifrim,Audrey Smith,G. Jawahar Swaminathan,Peter D. Turnpenny,James W. Whitworth,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Cecilia Lo,David Fitzpatrick,Matthew E. Hurles |
| Citations | 167 |
| DOI | 10.1038/ng.3410 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.research.ed.ac.uk/en/publications/a292df5b-aeed-46bd-ac8d-ed6a58fe4f46 |
| OpenAlex ID | https://openalex.org/W2096019836 |
| PMID | 26437029 |
| Type | article |
| Year | 2015 |

## Paper authors

- [George C. Gabriel](https://scholariq.org/researchers/george-c-gabriel/)

## 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/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

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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.