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Publications by Pak Chung Sham

Hedgehog/Notch-Induced Premature Gliogenesis Represents a New Disease Mechanism for Hirschsprung Disease in Mice and Humans

Journal of Clinical Investigation
Medicine
2011English

Genetic Variant Representation, Annotation and Prioritization in the Post-Gwas Era

Cell Research
Cell BiologyMolecular Biology
2012English

A Fast and Accurate SNP Detection Algorithm for Next-Generation Sequencing Data

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2012English

Diversity Spectrum Analysis Identifies Mutation-Specific Effects of Cancer Driver Genes

Communications Biology
GeneticsMolecular BiologyBiochemistryBiological SciencesMedicineAgricultural
2020English

PacBio but Not Illumina Technology Can Achieve Fast, Accurate and Complete Closure of the High GC, Complex Burkholderia Pseudomallei Two-Chromosome Genome

Frontiers in Microbiology
Microbiology
2017English

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred With Familial Amyloid Polyneuropathy

Scientific Reports
Multidisciplinary
2016English

Statistical Issues and Approaches in Endophenotype Research

Chinese Science Bulletin
2011English

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