De novopoint mutations in patients diagnosed with ataxic cerebral palsy

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Clinical whole exome sequencing in child neurology practice

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 -III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

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Genome sequencing identifies major causes of severe intellectual disability

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Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

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A Diagnostic Approach for Cerebral Palsy in the Genomic Era

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Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset

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Mutations in gamma adducin are associated with inherited cerebral palsy

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Next-generation sequencing in childhood disorders

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

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Point mutations as a source of de novo genetic disease

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Population-based studies of brain imaging patterns in cerebral palsy

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What constitutes cerebral palsy in the twenty-first century?

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An update on the prevalence of cerebral palsy: a systematic review and meta-analysis

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Rare copy number variation in cerebral palsy

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Erratum: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

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Cerebral palsy

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De novo mutations in epileptic encephalopathies

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Cellular and molecular basis of cerebellar development

(2013) Salvador Martinez et al.   Frontiers in Neuroanatomy

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

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

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

(2012) Morag E Shanks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

(2012) Wayne I.L. Davies et al.   GENETICS IN MEDICINE

Case of Infantile Onset Spinocerebellar Ataxia Type 5

(2012) Francois-Dominique Jacob et al.   JOURNAL OF CHILD NEUROLOGY

Genetic insights into the causes and classification of the cerebral palsies

(2012) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

De novo mutations in human genetic disease

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

(2012) Stefano Lise et al.   PLoS Genetics

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift

(2012) Pablo Cingolani et al.   Frontiers in Genetics

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

(2011) Hiroshi Doi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

(2011) Namik Kaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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Role of IP3 receptor in development

(2011) Katsuhiko Mikoshiba   CELL CALCIUM

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Malpractice Risk According to Physician Specialty

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Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

DYSKINETIC CEREBRAL PALSY: A CLINICAL AND:GENETIC STUDY

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Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects

(2010) Maja Steinlin   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

 -III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

(2010) Y. L. Clarkson et al.   HUMAN MOLECULAR GENETICS

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Loss of  -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

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A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

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

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

Molecular mechanisms controlling brain development: an overview of neuroepithelial secondary organizers

(2009) Claudia Vieira et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

(2009) Seval Türkmen et al.   PLoS Genetics

A systematic review of the role of intrapartum hypoxia-ischemia in the causation of neonatal encephalopathy

(2008) Ernest M. Graham et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Diagnosis, Treatment, and Prevention of Cerebral Palsy

(2008) THOMAS MICHAEL OʼSHEA   CLINICAL OBSTETRICS AND GYNECOLOGY

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

(2008) T. Ozcelik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Differential diagnosis of cerebellar atrophy in childhood

(2007) Andrea Poretti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY