J R Lupski

发表

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

S M Leber, P. Stankiewicz, J. Lupski, 2001, American journal of human genetics.

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

J. Lupski, M. Leppert, A. Hutchinson, 1999, American journal of human genetics.

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

J. Lupski, E. Shooter, P. Patel, 1993, The New England journal of medicine.

Short, interspersed repetitive DNA sequences in prokaryotic genomes

J. Lupski, G. Weinstock, G M Weinstock, 1992, Journal of bacteriology.

Charcot-Marie-Tooth disease and related inherited neuropathies.

J. Lupski, L. Reiter, C A Garcia, 1996, Medicine.

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

M Nakagawa, J. Lupski, C. Boerkoel, 2004, Neurology.

Olfactory copy number association with age at onset of Alzheimer disease

J. Wiszniewska, C. Shaw, J. Belmont, 2011, Neurology.

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

F Greenberg, J. Lupski, P. Patel, 1996, American journal of human genetics.

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

C McCluggage, F Greenberg, J. Lupski, 1996, American journal of medical genetics.

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

J. Lupski, T. Wensel, R. Lewis, 2001, Human molecular genetics.

Conservation and evolution of the rpsU‐dnaG‐rpoD macromolecular synthesis operon in bacteria

J. Lupski, J. Versalovic, K. Geszvain, 1993, Molecular microbiology.