Title:

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

Journal:

Journal of Human Genetics

Research area:

CNV analysis tools

Techniques:

AccuCopy

Title:

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

Journal:

BMC Genomics

Research area:

Congenital heart disease

Techniques:

CNVplex

Title:

Genomic variations of the mevalonate pathway in porokeratosis

Journal:

eLIFE

Research area:

Porokeratosis

Techniques:

EasyTarget; CNVplex

Title:

Genome-wide association study validation identifies novel loci for atherosclerotic cardiovascular disease

Journal:

Journal of Thrombosis and Haemostasis

Research area:

Atherosclerotic cardiovascular disease

Techniques:

SNPscan

Title:

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

Journal:

The American Journal of Human Genetics

Research area:

Primary Hypertrophic Osteoarthropathy

Techniques:

Exome sequencing

Title:

A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer

Journal:

The American Journal of Human Genetics

Research area:

Lung Cancer

Techniques:

AccuCopy

Title:

A Functional Copy Number Variation In The WWOX Gene Is Associated With Lung Cancer risk In Chinese

Journal:

Human Molecular Genetics

Research area:

Lung Cancer

Techniques:

AccuCopy

Title:

An Exploratory Study On STX6, MOBP, MAPT, And EIF2AK3 And Late-Onset Alzheimer’s Disease

Journal:

Neurobiology of Aging

Research area:

Alzheimer’s Disease

Techniques:

iMLDR

Title:

Characterization Of Large Deletions In The F8 Gene Using Multiple Competitive Amplification And Genome Walking Technique

Journal:

Journal of Thrombosis and Haemostasis

Research area:

Hemophilia A

Techniques:

AccuCopy

Title:

Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration

Journal:

PLOS Computational Biology

Research area:

Human Facial Morphology

Techniques:

Multiplex SNaPshot