Novel somatic and germline mutations in intracranial germ cell tumours

Linghua Wang, Shigeru Yamaguchi, Matthew D. Burstein, +22

Nature

Neuro-oncologySomatic VariantTumor HeterogeneitySomatic Cell GeneticsPathology +7

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley, +72

The American Journal of Human Genetics

Mitochondrial MyopathyNeurodegenerative DiseasesMendelian DisorderMitochondrial FunctionGenetic Disorder +8

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

Zongxiao He, Brian J. O’Roak, Joshua D. Smith, +10

The American Journal of Human Genetics

Rare-variant ExtensionsTransmission Disequilibrium TestSyndromic AutismGenetic DisorderGenetics +6

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, +70

The American Journal of Human Genetics

Rare DiseasesMendelian DisorderGenetic DisorderGeneticsPathology +5

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Mohsin Shahzad, Sairah Yousaf, Yar Muhammad Waryah, +62

Scientific Reports

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

Linhai Zhao, Zongxiao He, Di Zhang, +7

The American Journal of Human Genetics

Neurodegenerative DiseasesAlzheimer's DiseaseGenotype-phenotype AssociationExtended PedigreesDementia +12

mirAct: a web tool for evaluating microRNA activity based on gene expression data

Zhi Liang, Hong Zhou, Zongxiao He, +2

Nucleic Acids Research

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

Zongxiao He, Di Zhang, Alan E. Renton, +6

The American Journal of Human Genetics

Genome-wide Association StudyGenetic AnalysisAssociation AnalysisAlzheimer's DiseaseGenotype-phenotype Association +10

SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data

Di Zhang, Linhai Zhao, Biao Li, +4

The American Journal of Human Genetics

Genome-wide Association StudyAllelic VariantFunctional GenomicsComplete Analysis ToolNext-generation Sequencing +9