Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study

(2017) Lian Duan et al.   STROKE

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

(2017) Maki Mukawa et al.   Journal of Stroke & Cerebrovascular Diseases

Neurofibromin is a novel regulator of Ras-induced reactive oxygen species production in mice and humans

(2016) Waylan K. Bessler et al.   FREE RADICAL BIOLOGY AND MEDICINE

Clinical characteristics and long-term outcomes of moyamoya syndrome associated with neurofibromatosis type 1

(2015) Cong Han et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

(2014) Dominique Hervé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders

(2014) Margherita Mutarelli et al.   BMC GENOMICS

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

(2013) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurofibromatosis Type 1 Associated With Moyamoya Syndrome in Children

(2013) Anna Duat-Rodríguez et al.   PEDIATRIC NEUROLOGY

Nf1 Loss and Ras Hyperactivation in Oligodendrocytes Induce NOS-Driven Defects in Myelin and Vasculature

(2013) Debra A. Mayes et al.   Cell Reports

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

(2011) Snaigune Miskinyte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Truncated IRAG variants modulate cGMP-mediated inhibition of human colonic smooth muscle cell contraction

(2011) Alexander von Werder et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

IRAG and novel PKG targeting in the cardiovascular system

(2011) Jens Schlossmann et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists

(2010) Andrew D Johnson et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Pathophysiology and genetic factors in moyamoya disease

(2009) Achal S. Achrol et al.   Neurosurgical Focus

Moyamoya Disease and Moyamoya Syndrome

(2009) R. Michael Scott et al.   NEW ENGLAND JOURNAL OF MEDICINE

NCBI Reference Sequences: current status, policy and new initiatives

(2008) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Moyamoya Disease in Europeans

(2008) Markus Kraemer et al.   STROKE

Prevalence and Clinicoepidemiological Features of Moyamoya Disease in Japan

(2007) Shinichi Kuriyama et al.   STROKE