Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

Diffuse hypomyelination is not obligate for POLR3-related disorders

(2016) Roberta La Piana et al.   NEUROLOGY

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy

(2015) Mariana Gutierrez et al.   Orphanet Journal of Rare Diseases

Comparison of predicted and actual consequences of missense mutations

(2015) Lisa A. Miosge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

(2015) Isabelle Thiffault et al.   Nature Communications

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

(2014) Michael Yourshaw et al.   BRIEFINGS IN BIOINFORMATICS

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

(2014) Matthew Mort et al.   GENOME BIOLOGY

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Mutations inPOLR3AandPOLR3Bare a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

(2013) Hussein Daoud et al.   JOURNAL OF MEDICAL GENETICS

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

(2013) David H. Margolin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network

(2011) Ravikumar Balasubramanian et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

FAMI1,IAL ATAXIA, HYPOGONADISM AND RETINAL DEGENERATION

(2010) R. J. Boucher et al.   ACTA NEUROLOGICA SCANDINAVICA

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

(2010) Hélène Dumay-Odelot et al.   CELL CYCLE

Congenital Idiopathic Hypogonadotropic Hypogonadism: Evidence of Defects in the Hypothalamus, Pituitary, and Testes

(2010) Gerasimos P. Sykiotis et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

(2010) Geneviève Bernard et al.   NEUROGENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Structure–function analysis of RNA polymerases I and III

(2009) Michel Werner et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum

(2008) Masayuki Sasaki et al.   BRAIN & DEVELOPMENT