WDR45 mutations in three male patients with West syndrome

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature

(2015) Kyoko Takano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

(2015) S. Dimassi et al.   CLINICAL GENETICS

Lessons from a pair of siblings with BPAN

(2015) Yuri A Zarate et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

(2015) Affef Abidi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings

(2015) Mohamed Khalifa et al.   European Journal of Medical Genetics

WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome

(2015) T. Proikas-Cezanne et al.   JOURNAL OF CELL SCIENCE

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation inWDR45

(2015) Sook Won Ryu et al.   Journal of Clinical Neurology

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

(2015) Anne Tschentscher et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

(2015) Kenya Nishioka et al.   NEUROBIOLOGY OF AGING

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay

(2015) M. Long et al.   PEDIATRICS

WIPI-Mediated Autophagy and Longevity

(2015) Mona Grimmel et al.   Cells

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelWDR45mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

(2014) Tadashi Ozawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early manifestations of BPAN in a pediatric patient

(2014) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome

(2014) Mitsuko Nakashima et al.   JOURNAL OF HUMAN GENETICS

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

(2014) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

Novel mutation of theWDR45gene causing beta-propeller protein-associated neurodegeneration

(2014) Geetanjali S. Rathore et al.   MOVEMENT DISORDERS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

WIPI β-propellers in autophagy-related diseases and longevity

(2013) Daniela Bakula et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013

(2013) Piero Pavone et al.   BRAIN & DEVELOPMENT

Autophagy and human diseases

(2013) Peidu Jiang et al.   CELL RESEARCH

WDR45mutations define a novel disease entity-Static Encephalopathy of Childhood with Neurodegeneration in Adulthood

(2013) F Aminkeng   CLINICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients

(2013) Willem M.A. Verhoeven et al.   PARKINSONISM & RELATED DISORDERS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Syndromes of Neurodegeneration With Brain Iron Accumulation

(2012) Susanne A. Schneider et al.   Seminars in Pediatric Neurology

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

(2011) M.C. Kruer et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Genetics of Neurodegeneration with Brain Iron Accumulation

(2011) Allison Gregory et al.   Current Neurology and Neuroscience Reports

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Genetic and Biologic Classification of Infantile Spasms

(2011) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne et al.   EPILEPSIA

Dynamics and diversity in autophagy mechanisms: lessons from yeast

(2009) Hitoshi Nakatogawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Risk of autism spectrum disorders after infantile spasms: A population-based study nested in a cohort with seizures in the first year of life

(2008) Evald Saemundsen et al.   EPILEPSIA

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE