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Publications in Genetics

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

American Journal of Human Genetics

English

Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach

American Journal of Human Genetics

English

The Iceberg Under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

American Journal of Human Genetics

English

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

American Journal of Human Genetics

English

GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism

American Journal of Human Genetics

English

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly

American Journal of Human Genetics

English

Quantification of Nascent Transcription by Bromouridine Immunocapture Nuclear Run-On RT-qPCR

Nature Protocols

Molecular Biology

English

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

English

Metabolic Correction of Congenital Erythropoietic Porphyria With iPSCs Free of Reprogramming Factors

American Journal of Human Genetics

English

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English