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

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

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

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

(2017) Ayumi Nishiyama et al.   NEUROBIOLOGY OF AGING

Further evidence that variants inPPP1CBcause a rasopathy similar to Noonan syndrome with loose anagen hair

(2016) Regina M. Zambrano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multifocal nerve lesions andLZTR1germline mutations in segmental schwannomatosis

(2016) Said Farschtschi et al.   ANNALS OF NEUROLOGY

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

(2016) Lijiang Ma et al.   HUMAN GENETICS

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

(2015) Masako Yaoita et al.   HUMAN GENETICS

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

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

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

(2014) Sonja Hutter et al.   ACTA NEUROPATHOLOGICA

Expanding the mutational spectrum of LZTR1 in schwannomatosis

(2014) Irene Paganini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

(2014) Lisenka ELM Vissers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

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

A CULLINary ride across the secretory pathway: more than just secretion

(2014) Albert Lu et al.   TRENDS IN CELL BIOLOGY

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An MRAS, SHOC2, and SCRIB Complex Coordinates ERK Pathway Activation with Polarity and Tumorigenic Growth

(2013) Lucy C. Young et al.   MOLECULAR CELL

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

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

(2010) Tomoko Kobayashi et al.   HUMAN MUTATION

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION