Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Selumetinib in Children with Inoperable Plexiform Neurofibromas

(2020) Andrea M. Gross et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

(2019) Magdalena Koczkowska et al.   HUMAN MUTATION

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

(2019) Elisabeth Castellanos et al.   CLINICAL GENETICS

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

(2018) Manon Suerink et al.   JOURNAL OF MEDICAL GENETICS

Prevalence of neurofibromatosis type 1 in the Finnish population

(2017) Roope A Kallionpää et al.   GENETICS IN MEDICINE

Neurofibromatosis type 1

(2017) David H. Gutmann et al.   Nature Reviews Disease Primers

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

(2016) C. Cassiman et al.   CLINICAL GENETICS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1

(2016) Elina Uusitalo et al.   JOURNAL OF CLINICAL ONCOLOGY

Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population

(2015) Aldo Vagge et al.   ACTA OPHTHALMOLOGICA

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

(2014) M. Ruggieri et al.   CLINICAL GENETICS

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

(2014) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Juvenile xanthogranulomas are highly prevalent but transient in young children with neurofibromatosis type 1

(2014) Marion Fenot et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Anemic Nevus in Neurofibromatosis Type 1

(2013) G. Tadini et al.   DERMATOLOGY

Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1

(2011) Francesco Viola et al.   OPHTHALMOLOGY

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

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

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