# International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

**Type:** Papers  
**Canonical URL:** https://picoportal.org/library/papers/international-cooperation-to-enable-the-diagnosis-of-all-rare-genetic-diseases/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Kym M. Boycott,Ana Rath,Jessica X. Chong,Taila Hartley,Fowzan S. Alkuraya,Gareth Baynam,Anthony J. Brookes,Michael Brudno,Ángel Carracedo,Johan T. den Dunnen,Stephanie O. M. Dyke,Xavier Estivill,Jack Goldblatt,Catherine Gonthier,Stephen C. Groft,Marta Gut,Ada Hamosh,Philip Hieter,Sophie Höhn,Matthew E. Hurles,Petra Kaufmann,Bartha Maria Knoppers,Jeffrey P. Krischer,Milan Maçek,Gert Matthijs,Annie Olry,Samantha Parker,Justin Paschall,Anthony Philippakis,Heidi L. Rehm,Peter N. Robinson,Pak C. Sham,Румен Стефанов,Domenica Taruscio,Divya Unni,Megan R. Vanstone,Feng Zhang,Han G. Brunner,Michael J. Bamshad,Hanns Lochmüller |
| Citations | 465 |
| DOI | 10.1016/j.ajhg.2017.04.003 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://www.cell.com/article/S0002929717301477/pdf |
| OpenAlex ID | https://openalex.org/W2611574484 |
| PMID | 28475856 |
| Type | article |
| Year | 2017 |

## Paper authors

Showing 10 of 25.

- [Kym M. Boycott](https://picoportal.org/library/researchers/kym-m-boycott/)
- [Matthew E. Hurles](https://picoportal.org/library/researchers/matthew-e-hurles/)
- [Ángel Carracedo](https://picoportal.org/library/researchers/a-ngel-carracedo/)
- [Fowzan S. Alkuraya](https://picoportal.org/library/researchers/fowzan-s-alkuraya/)
- [Jeffrey P. Krischer](https://picoportal.org/library/researchers/jeffrey-p-krischer/)
- [Philip Hieter](https://picoportal.org/library/researchers/philip-hieter/)
- [Feng Zhang](https://picoportal.org/library/researchers/feng-zhang-6/)
- [Anthony J. Brookes](https://picoportal.org/library/researchers/anthony-j-brookes/)
- [Anthony Philippakis](https://picoportal.org/library/researchers/anthony-philippakis/)
- [Michael Brudno](https://picoportal.org/library/researchers/michael-brudno/)

## Paper journal

- [The American Journal of Human Genetics](https://picoportal.org/library/journals/the-american-journal-of-human-genetics/)

## Paper primary topic

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

## Paper topics

- [Genomics and Rare Diseases](https://picoportal.org/library/topics/genomics-and-rare-diseases/)
- [Cystic Fibrosis Research Advances](https://picoportal.org/library/topics/cystic-fibrosis-research-advances/)
- [Genomic variations and chromosomal abnormalities](https://picoportal.org/library/topics/genomic-variations-and-chromosomal-abnormalities/)

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Source: PICO Portal — public research metadata, principally OpenAlex. See https://picoportal.org/library/sources/ for provenance and https://picoportal.org/library/methodology/ for what these figures mean.