De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

(2012) Marjolijn C.J. Jongmans et al.   AMERICAN JOURNAL OF HUMAN GENETICS

JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

(2012) Andrew Roth et al.   BIOINFORMATICS

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Activating mutations of TOR (target of rapamycin)

(2011) Molly Hardt et al.   GENES TO CELLS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

mTOR: A pathogenic signaling pathway in developmental brain malformations

(2011) Peter B. Crino   TRENDS IN MOLECULAR MEDICINE

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

(2010) S. Tokuda et al.   HUMAN MOLECULAR GENETICS

Improved outcomes in pediatric epilepsy surgery: The UCLA experience, 1986-2008

(2010) M. Hemb et al.   NEUROLOGY

Single amino-acid changes that confer constitutive activation of mTOR are discovered in human cancer

(2010) T Sato et al.   ONCOGENE

Contact Sensitization in Children

(2010) Bianca Maria Manzini et al.   PEDIATRIC DERMATOLOGY

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Revertant Mosaicism — Patchwork in the Skin

(2009) Marcel F. Jonkman et al.   NEW ENGLAND JOURNAL OF MEDICINE

A novel AKT3 mutation in melanoma tumours and cell lines

(2008) M A Davies et al.   BRITISH JOURNAL OF CANCER

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

(2008) John J. Bissler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hemimegalencephaly in a Patient With a Neurocutaneous Syndrome

(2008) Kevin Chapman et al.   Seminars in Pediatric Neurology