Diana Alcantara

发表

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

P. Jeggo, E. Bongers, H. Brunner, 2013, PLoS genetics.

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

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.

Enfermedad poliquística hepática asociada a enfermedad poliquística renal autosómica dominante

J. Saavedra, Diana Alcantara, M. Garcés, 2011 .

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

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “PIK3CA‐Related Overgrowth Spectrum”

A. Rump, W. Dobyns, G. Mirzaa, 2016, Human mutation.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

J. Rivière, R. Boidot, L. Faivre, 2023, Oncotarget.

American Journal of Medical Genetics Part C (seminars in Medical Genetics) Congenital Microcephaly

M. O’Driscoll, Diana Alcantara, Mark O 'driscoll, 2022 .

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

M. Nowaczyk, A. Lehman, B. Maranda, 2016, JCI insight.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function

A. Carr, M. O’Driscoll, C. Kerzendorfer, 2011, Mechanisms of Ageing and Development.

Understanding at the molecular level the consequences of defective ATR signalling in humans

Diana Alcantara, 2013 .

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

M. Dorschner, P. Byers, W. Dobyns, 2019, American journal of human genetics.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Understanding the impact of 1q21.1 copy number variant

P. Pavlidis, E. Strong, M. O’Driscoll, 2011, Orphanet journal of rare diseases.

novel de novo mutation in PRKCE ( Protein Kinase C ) impairing TORC 2 dependent AKT ɛ activation

K. Boycott, T. Hartley, M. Tétreault, 2019 .

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation

K. Boycott, T. Hartley, M. Tétreault, 2017, Human molecular genetics.