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Publications by James R Lupski

Mutations in COL27A1 Cause Steel Syndrome and Suggest a Founder Mutation Effect in the Puerto Rican Population

European Journal of Human Genetics

English

PacBio-LITS: A Large-Insert Targeted Sequencing Method for Characterization of Human Disease-Associated Chromosomal Structural Variations

English

Circadian Abnormalities in Mouse Models of Smith-Magenis Syndrome: Evidence for Involvement ofRAI1

American Journal of Medical Genetics, Part A

English

The DNA Replication FoSTeS/MMBIR Mechanism Can Generate Genomic, Genic and Exonic Complex Rearrangements in Humans

Nature Genetics

English

Genomic Disorders Ten Years On

Genome Medicine

Molecular Medicine

Molecular Biology

English

Charcot-Marie-Tooth Disease and Related Hereditary Polyneuropathies: Molecular Diagnostics Determine Aspects of Medical Management

Genetics in Medicine

English

Microduplications of 22q11.2 Are Frequently Inherited and Are Associated With Variable Phenotypes

Genetics in Medicine

English

A Syndrome of Short Stature, Microcephaly and Speech Delay Is Associated With Duplications Reciprocal to the Common Sotos Syndrome Deletion

European Journal of Human Genetics

English