Concepedia

Diana Alcantara

DA

Statistics

Publications

12

Citations

1.6K

H-Index

12

Active since

2011

Affiliations

University of Sussex(Current)

University of Washington

Seattle Children's Hospital

University of Ottawa

Children's Hospital of Eastern Ontario

Diana Alcantara is an author at University of Sussex specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2011–2019

12

Publications

12

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

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Mutations in PIK3R1 Cause SHORT Syndrome

David A. Dyment, Amanda Smith, Diana Alcantara et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text

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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara et al. · Nature Genetics · 2013 · 116 citations · Full text

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E. Timms, Karen W. Gripp et al. · Brain · 2017 · 113 citations · Full text

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara et al. · The American Journal of Human Genetics · 2016 · 110 citations · Full text

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