Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

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

(2021) Eric Legius et al.   GENETICS IN MEDICINE

DGCR8 and the six hit, three-step model of schwannomatosis

(2021) Clara Nogué et al.   ACTA NEUROPATHOLOGICA

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

(2021) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Oligo-astrocytoma in LZTR1-related Noonan syndrome

(2019) Adeline Jacquinet et al.   European Journal of Medical Genetics

Coexistence of schwannomatosis and glioblastoma in two families

(2019) Caroline Deiller et al.   European Journal of Medical Genetics

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

(2019) D. Gareth Evans et al.   GENETICS IN MEDICINE

A deep intronic SMARCB1 variant associated with schwannomatosis

(2019) Miriam J. Smith et al.   CLINICAL GENETICS

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

(2018) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Schwannomatosis: a genetic and epidemiological study

(2018) D Gareth Evans et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

(2018) Hildegard Kehrer-Sawatzki et al.   Molecular Genetics & Genomic Medicine

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

(2018) D. Gareth Evans et al.   GENETICS IN MEDICINE

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

(2018) Ikumi Umeki et al.   HUMAN GENETICS

CDKN2Amutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature

(2016) M.R. Sargen et al.   BRITISH JOURNAL OF DERMATOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Report of a patient with a constitutional missense mutation inSMARCB1, Coffin-Siris phenotype, and schwannomatosis

(2015) Nathan Gossai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

(2015) Guilherme Lopes Yamamoto et al.   JOURNAL OF MEDICAL GENETICS

Rhabdoid Tumor Predisposition Syndrome

(2015) Simone T. Sredni et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

(2014) Keqiang Zhang et al.   GENETICS IN MEDICINE

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

(2014) Miriam J. Smith et al.   Cancer Genetics

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The integrated landscape of driver genomic alterations in glioblastoma

(2013) Veronique Frattini et al.   NATURE GENETICS

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

(2011) Miriam J. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence of a four-hit mechanism involvingSMARCB1andNF2in schwannomatosis-associated schwannomas

(2007) Roberta Sestini et al.   HUMAN MUTATION