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Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Selective nanopore sequencing of human BRCA1 by Cas9-assisted targeting of chromosome segments (CATCH)

(2018) Tslil Gabrieli et al.   NUCLEIC ACIDS RESEARCH

Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis

(2018) Yuan Zhang et al.   Frontiers in Molecular Neuroscience

GBA mutations in Parkinson disease: earlier death but similar neuropathological features

(2017) C. H. Adler et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutational analysis in BCR - ABL1 positive leukemia by deep sequencing based on nanopore MinION technology

(2017) Crescenzio F. Minervini et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

Precision newborn screening for lysosomal disorders

(2017) Melissa M Minter Baerg et al.   GENETICS IN MEDICINE

GBA Analysis in Next-Generation Era

(2017) Stefania Zampieri et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

(2017) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

(2017) Victoria Berge-Seidl et al.   NEUROSCIENCE LETTERS

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

(2017) Elizabeth Nacheva et al.   PLoS One

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

(2016) Ganqiang Liu et al.   ANNALS OF NEUROLOGY

TP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing

(2016) Crescenzio Francesco Minervini et al.   Diagnostic Pathology

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment

(2016) Anthony H.V. Schapira et al.   MOVEMENT DISORDERS

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients

(2016) Nino Spataro et al.   MOVEMENT DISORDERS

Real-time, portable genome sequencing for Ebola surveillance

(2016) Joshua Quick et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

(2016) Joshua T. Geiger et al.   NEUROBIOLOGY OF DISEASE

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

(2016) Silvia Jesús et al.   PLoS One

Fast and sensitive mapping of nanopore sequencing reads with GraphMap

(2016) Ivan Sović et al.   Nature Communications

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

(2016) Thomas W. Laver et al.   Scientific Reports

The genetics of Parkinson's disease

(2015) Stephen Mullin et al.   BRITISH MEDICAL BULLETIN

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian et al.   GENETICS IN MEDICINE

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

A complete bacterial genome assembled de novo using only nanopore sequencing data

(2015) Nicholas J Loman et al.   NATURE METHODS

Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort

(2015) Michelle Beavan et al.   JAMA Neurology

Poretools: a toolkit for analyzing nanopore sequence data

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Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort

(2013) Sophie E. Winder-Rhodes et al.   BRAIN

Novel pathogenic mutations in the glucocerebrosidase locus

(2012) Raquel Duran et al.   MOLECULAR GENETICS AND METABOLISM

Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

(2011) Seon-Yong Jeong et al.   JOURNAL OF HUMAN GENETICS

The importance of phase information for human genomics

(2011) Ryan Tewhey et al.   NATURE REVIEWS GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION