Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

(2014) Bernadett Balla et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A cost savings approach toSPRED1mutational analysis in individuals at risk for neurofibromatosis type 1

(2013) Talia M. Muram et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

(2013) Audrey Sabbagh et al.   HUMAN MUTATION

Mutational landscape and significance across 12 major cancer types

(2013) Cyriac Kandoth et al.   NATURE

Emerging landscape of oncogenic signatures across human cancers

(2013) Giovanni Ciriello et al.   NATURE GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

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

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

An Unholy Alliance: Cooperation between BRAF and NF1 in Melanoma Development and BRAF Inhibitor Resistance

(2013) Geoffrey T. Gibney et al.   Cancer Discovery

Review and update ofSPRED1mutations causing legius syndrome

(2012) Hilde Brems et al.   HUMAN MUTATION

Neurofibromatosis type 1: from genotype to phenotype

(2012) Eric Pasmant et al.   JOURNAL OF MEDICAL GENETICS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Elucidating Distinct Roles for NF1 in Melanomagenesis

(2012) Ophélia Maertens et al.   Cancer Discovery

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

(2011) María Carmen Valero et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A standardized framework for the validation and verification of clinical molecular genetic tests

(2010) Christopher J Mattocks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

(2010) Eric Pasmant et al.   HUMAN MUTATION

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

(2010) V.-F. Mautner et al.   JOURNAL OF MEDICAL GENETICS

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

(2009) Audrey Sabbagh et al.   HUMAN MOLECULAR GENETICS

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

(2009) Hilde Brems et al.   LANCET ONCOLOGY

Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

(2008) Eva Pros et al.   HUMAN MUTATION