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Publications in Genetics

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

English

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C

American Journal of Human Genetics

English

The Anti-CMS Technique for Genome-Wide Mapping of 5-Hydroxymethylcytosine

Nature Protocols

Molecular Biology

English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

English

Nontargeted Virus Sequence Discovery Pipeline and Virus Clustering for Metagenomic Data

Nature Protocols

Molecular Biology

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

In Vitro Imaging Using Laser Photostimulation With Flavoprotein Autofluorescence

Nature Protocols

Molecular Biology

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Mouse Model of Chronic and Binge Ethanol Feeding (The NIAAA Model)

Nature Protocols

Molecular Biology

English

Synthesis of Complex Benzenoids via the Intermediate Generation of O-Benzynes Through the Hexadehydro-Diels-Alder Reaction

Nature Protocols

Molecular Biology

English