Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Genomic Classification of Cutaneous Melanoma

(2015) Rehan Akbani et al.   CELL

Cooperation between Noncanonical Ras Network Mutations

(2015) Edward C. Stites et al.   Cell Reports

Turning Off AKT: PHLPP as a Drug Target

(2014) Alexandra C. Newton et al.   Annual Review of Pharmacology and Toxicology

Loss of NF1 in Cutaneous Melanoma Is Associated with RAS Activation and MEK Dependence

(2014) Moriah H. Nissan et al.   CANCER RESEARCH

The RAC1 P29S Hotspot Mutation in Melanoma Confers Resistance to Pharmacological Inhibition of RAF

(2014) Ian R. Watson et al.   CANCER RESEARCH

Combined BRAF (Dabrafenib) and MEK Inhibition (Trametinib) in Patients WithBRAFV600-Mutant Melanoma Experiencing Progression With Single-Agent BRAF Inhibitor

(2014) Douglas B. Johnson et al.   JOURNAL OF CLINICAL ONCOLOGY

BRAF/NRASwild-type melanoma, NF1 status and sensitivity to trametinib

(2014) Marco Ranzani et al.   Pigment Cell & Melanoma Research

Next-generation sequencing identifies rare variants associated with Noonan syndrome

(2014) P.-C. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Melanoma-associated mutations in protein phosphatase 6 cause chromosome instability and DNA damage owing to dysregulated Aurora-A

(2013) D. Hammond et al.   JOURNAL OF CELL SCIENCE

PP6C Hotspot Mutations in Melanoma Display Sensitivity to Aurora Kinase Inhibition

(2013) Heidi L. Gold et al.   MOLECULAR CANCER RESEARCH

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

(2013) Marcel Martin et al.   NATURE GENETICS

Oncogenic suppression of PHLPP1 in human melanoma

(2013) L Dong et al.   ONCOGENE

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

(2013) V. J. Guen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

(2013) J. J. Gartner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RAC1P29S is a spontaneously activating cancer-associated GTPase

(2013) M. J. Davis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

VEGFR and Type-V RTK Activation and Signaling

(2013) M. Shibuya   Cold Spring Harbor Perspectives in Biology

A Genome-Scale RNA Interference Screen Implicates NF1 Loss in Resistance to RAF Inhibition

(2013) Steven R. Whittaker et al.   Cancer Discovery

27-Hydroxycholesterol Promotes Cell-Autonomous, ER-Positive Breast Cancer Growth

(2013) Qian Wu et al.   Cell Reports

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

(2013) Alberto Magi et al.   GENOME BIOLOGY

Risk of benign tumours of nervous system and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

(2012) O O Seminog et al.   BRITISH JOURNAL OF CANCER

Disruption of Wild-Type IDH1 Suppresses D-2-Hydroxyglutarate Production in IDH1-Mutated Gliomas

(2012) G. Jin et al.   CANCER RESEARCH

A Landscape of Driver Mutations in Melanoma

(2012) Eran Hodis et al.   CELL

GSK3β regulates Bcl2L12 and Bcl2L12A anti-apoptosis signaling in glioblastoma and is inhibited by LiCl

(2012) Chia-Hua Chou et al.   CELL CYCLE

A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1

(2012) I. B. Stowe et al.   GENES & DEVELOPMENT

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

(2012) Michael Krauthammer et al.   NATURE GENETICS

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

(2012) Zhi Jiang Zang et al.   NATURE GENETICS

Lethal presentation of neurofibromatosis and Noonan syndrome

(2011) Carlos E. Prada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

(2011) Francesca Lepri et al.   HUMAN MUTATION

Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma

(2011) Todd D Prickett et al.   NATURE GENETICS

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing

(2011) Mitchell S Stark et al.   NATURE GENETICS

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation

(2011) Paul B. Chapman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeting the RAS pathway in melanoma

(2011) Zhenyu Ji et al.   TRENDS IN MOLECULAR MEDICINE

Histone Methyltransferase Gene SETD2 Is a Novel Tumor Suppressor Gene in Clear Cell Renal Cell Carcinoma

(2010) Gerben Duns et al.   CANCER RESEARCH

Genomic and Biological Characterization of Exon 4 KRAS Mutations in Human Cancer

(2010) M. Janakiraman et al.   CANCER RESEARCH

COT drives resistance to RAF inhibition through MAP kinase pathway reactivation

(2010) Cory M. Johannessen et al.   NATURE

Meenhard Herlyn

(2010) Ruth Halaban   Pigment Cell & Melanoma Research

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

(2010) J. W. Harbour et al.   SCIENCE

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

(2009) Christian Thiel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Cancer mortality in long-term survivors of retinoblastoma

(2009) T. Marees et al.   EUROPEAN JOURNAL OF CANCER

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins

(2008) Anna-Maja Nyström et al.   ACTA PAEDIATRICA

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

(2008) Jung Min Ko et al.   JOURNAL OF HUMAN GENETICS

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY