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on behalf of the DDD study

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Alejandro SifrimiD· 1 shared Caroline Fiona WrightiD· 1 shared Daniel H. GeschwindiD· 1 shared David R FitzPatrickiD· 1 shared Giuseppe GalloneiD· 1 shared Helen V. FirthiD· 1 shared Hyejung WoniD· 1 shared Jeffrey C. BarrettiD· 1 shared

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1 shared paperGenetics

Alejandro SifrimORCID

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Recent·Most cited

De novo mutations in regulatory elements cause neurodevelopmental disorders

Patrick Short, Jeremy F. McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H. Geschwind, Caroline Fiona Wright, Helen V. Firth, David R FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, on behalf of the DDD study

The paper identifies de novo mutations in fetal-brain active regulatory elements as a cause of 1-3% of neurodevelopmental disorders in patients without coding variants.

Nature · Mar 1, 2018Peer-reviewedGenetics