Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture

per Lupski, James R.
Publicat 2003

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

per Lupski, James R
Publicat 2004

Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)

per Lupski, James R.
Publicat 2000

Allan Award Introduction: Arthur L. Beaudet

per Lupski, James R.
Publicat 2008

Genomic disorders ten years on

per Lupski, James R
Publicat 2009

Cognitive Phenotypes and Genomic Copy Number Variations

per Lupski, James R.
Publicat a JAMA (2015)

Structural Variation Mutagenesis of the Human Genome: Impact on Disease and Evolution

per Lupski, James R.
Publicat a Environ Mol Mutagen (2015)

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements

per Lupski, James R.
Publicat a Am J Hum Genet (2019)

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

per Lupski, James R, Stankiewicz, Pawel
Publicat 2005

Charcot–Marie–Tooth disease

per Szigeti, Kinga, Lupski, James R
Publicat 2009

Genomic disorders the genomic basis of disease /

per Lupski, James R., Stankiewicz, Pawel T.
Publicat c200

Non-coding genetic variants in human disease

per Zhang, Feng, Lupski, James R.
Publicat a Hum Mol Genet (2015)

From genes to genomes in the clinic

per Veltman, Joris A., Lupski, James R.
Publicat a Genome Med (2015)

Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

per Yan, Jiong, Bi, Weimin, Lupski, James R.
Publicat 2007

Copy number variation at the breakpoint region of isochromosome 17q

per Carvalho, Claudia M.B., Lupski, James R.
Publicat 2008

Mechanisms for human genomic rearrangements

per Gu, Wenli, Zhang, Feng, Lupski, James R
Publicat 2008

Personal genome research: what should the participant be told?

per McGuire, Amy L., Lupski, James R.
Publicat 2010

A functional role for structural variation in metabolism

per Lacaria, Melanie, Gu, Wenli, Lupski, James R.
Publicat 2013

Circadian Abnormalities in Mouse Models of Smith–Magenis Syndrome: Evidence for Involvement of RAI1

per Lacaria, Melanie, Gu, Wenli, Lupski, James R
Publicat 2013

Mechanisms underlying structural variant formation in genomic disorders

per Carvalho, Claudia M. B., Lupski, James R.
Publicat a Nat Rev Genet (2016)