Related references
Note: Only part of the references are listed.Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
Hildegard Kehrer-Sawatzki et al.
HUMAN GENETICS (2022)
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant
Thomas Huby et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2022)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Damian Smedley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2021)
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Andre E. Minoche et al.
GENOME MEDICINE (2021)
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores
Philipp Rentzsch et al.
GENOME MEDICINE (2021)
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius et al.
GENETICS IN MEDICINE (2021)
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes
Cristina Perez-Becerril et al.
HUMAN MUTATION (2021)
Severe Phenotype in Patients with Large Deletions of NF1
Laurence Pacot et al.
CANCERS (2021)
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple cafe-au-lait macules
Elisabeth Castellanos et al.
CLINICAL GENETICS (2020)
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Christina Bergqvist et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
A structural variation reference for medical and population genetics
Ryan L. Collins et al.
NATURE (2020)
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting
L. Allach El Khattabi et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2019)
Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis
L. J. Salomon et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2019)
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
Aurelia Gruber et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2018)
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier et al.
NEURO-ONCOLOGY (2018)
Emerging genotype-phenotype relationships in patients with large NF1 deletions
Hildegard Kehrer-Sawatzki et al.
HUMAN GENETICS (2017)
Neurofibromatosis type 1
David H. Gutmann et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
D. G. Evans et al.
EBIOMEDICINE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Eric Pasmant et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor
Nancy Ratner et al.
NATURE REVIEWS CANCER (2015)
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian et al.
NUCLEIC ACIDS RESEARCH (2014)
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Audrey Sabbagh et al.
HUMAN MUTATION (2013)
A genomic view of mosaicism and human disease
Leslie G. Biesecker et al.
NATURE REVIEWS GENETICS (2013)
Review and update of SPRED1 mutations causing legius syndrome
Hilde Brems et al.
HUMAN MUTATION (2012)
Neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome
Ludwine Messiaen et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
E. Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2009)
Detection and Characterization of NF1 Microdeletions by Custom High Resolution Array CGH
Eric Pasmant et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2009)
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
Hilde Brems et al.
LANCET ONCOLOGY (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
Eric Pasmant et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Hilde Brems et al.
NATURE GENETICS (2007)
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
Ophelia Maertens et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene
MP Horan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Frequency of choroidal abnormalities in neurofibromatosis type 1
T Yasunari et al.
LANCET (2000)