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Publications in Genetics

Two-Way Communication With Neural Networks in Vivo Using Focused Light

Nature Protocols

Molecular Biology

English

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

American Journal of Human Genetics

English

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

English

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

American Journal of Human Genetics

English

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

American Journal of Human Genetics

English

Lessons Learned From Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American Journal of Human Genetics

English

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

American Journal of Human Genetics

English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics

English

Response to Lee Et Al.: SNP-Based Heritability Analysis With Dense Data

American Journal of Human Genetics

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English