Concepedia

Diana Alcantara

DA

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Publications

11

Citations

1.5K

H-Index

11

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 medicine, pathology, and molecular genetics.

ORCID

Top concepts

Publications per year

2011–2019

11

Publications

11

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 · 737 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 · 191 citations · Full text

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 · 110 citations · Full text

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 · 105 citations · Full text

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