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Publications in Genetics

Preparation and Biomedical Applications of Programmable and Multifunctional DNA Nanoflowers

Nature Protocols

Molecular Biology

English

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

English

Recurrent Germline DLST Mutations in Individuals With Multiple Pheochromocytomas and Paragangliomas

American Journal of Human Genetics

English

Haplotype Sharing Provides Insights Into Fine-Scale Population History and Disease in Finland

American Journal of Human Genetics

English

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

American Journal of Human Genetics

English

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American Journal of Human Genetics

English

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

American Journal of Human Genetics

English

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American Journal of Human Genetics

English

Tet-Assisted Bisulfite Sequencing of 5-Hydroxymethylcytosine

Nature Protocols

Molecular Biology

English

The Genetic Ancestry of Modern Indus Valley Populations From Northwest India

American Journal of Human Genetics

English