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Publications in Genetics

Biallelic Mutations in LRRC56, Encoding a Protein Associated With Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

American Journal of Human Genetics

English

Fabrication and Operation of GRIN Probes for in Vivo Fluorescence Cellular Imaging of Internal Organs in Small Animals

Nature Protocols

Molecular Biology

English

Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies

American Journal of Human Genetics

English

Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

American Journal of Human Genetics

English

Establishment of Primary Cultures of Human Brain Microvascular Endothelial Cells to Provide an in Vitro Cellular Model of the Blood-Brain Barrier

Nature Protocols

Molecular Biology

English

RAD21 Mutations Cause a Human Cohesinopathy

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Differential Gene and Transcript Expression Analysis of RNA-seq Experiments With TopHat and Cufflinks

Nature Protocols

Molecular Biology

English

Principal-Component Analysis for Assessment of Population Stratification in Mitochondrial Medical Genetics

American Journal of Human Genetics

English

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland

American Journal of Human Genetics

English