Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

(2019) Devesh C. Pant et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

(2019) Huifang Yan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

(2018) Huifang Yan et al.   BRAIN

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

(2018) Haoran Ji et al.   PLoS One

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Diffuse hypomyelination is not obligate for POLR3-related disorders

(2016) Roberta La Piana et al.   NEUROLOGY

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

(2016) Omar Soukarieh et al.   PLoS Genetics

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

(2015) Natsuko Arai-Ichinoi et al.   HUMAN GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

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

(2015) Isabelle Thiffault et al.   Nature Communications

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

(2015) Slavé Petrovski et al.   PLoS Genetics

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

(2014) Eline M. Hamilton et al.   BRAIN

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH