J. R. Lupski

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L. Shaffer, J. Lupski, C. Kashork, 1999, American journal of human genetics.

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

L. Shaffer, J. Lupski, A. Spikes, 1997, American journal of medical genetics.

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

J. Sebat, D. Malhotra, D. Rujescu, 2019, Biological Psychiatry.

Replicative mechanisms for CNV formation are error prone

J. Lupski, J. Belmont, D. Pehlivan, 2013, Nature Genetics.

Molecular genetics of Charcot-Marie-Tooth neuropathy.

J. Lupski, B. Roa, J. Lupski, 1994, Advances in human genetics.

Ophthalmic manifestations of Smith-Magenis syndrome.

J. Lupski, R. Lewis, F. Greenberg, 1996, Ophthalmology.

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

J. Lupski, P. Liu, P. Hastings, 2011, American journal of human genetics.

Genomic and clinical characteristics of microduplications in chromosome 17

S. Cheung, O. Shchelochkov, J. R. Lupski, 2010, American journal of medical genetics. Part A.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Z. Ou, E. Roeder, V. Enciso, 2008, Genetics in Medicine.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

J. Lupski, P. Patel, M. Lensch, 1994, Human molecular genetics.

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

J. Lupski, M. Leppert, N. Katsanis, 1999, American journal of human genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

J. Lupski, J. Wess, P. Chanson, 2014, The New England journal of medicine.

Detection of tandem duplications and implications for linkage analysis.

J. Lupski, T. Matise, P. Patel, 1994, American journal of human genetics.

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

J. Lupski, C. van Broeckhoven, V. Timmerman, 1999, Neurology.

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

J. Lupski, J. Millán, F. Palau, 2005, Journal of Medical Genetics.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

P. Stankiewicz, J. Lupski, S. Cheung, 2004, Clinical genetics.

Generation of the Sotos syndrome deletion in mice

Jacqueline K. White, J. Lupski, A. Rust, 2012, Mammalian Genome.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

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

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

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

J. Lupski, J. Milbrandt, J. Svaren, 1999, Human molecular genetics.

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.

Corinne M. Spencer, Melanie Lacaria, J. R. Lupski, 2012, Human molecular genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Chromosomal duplications in bacteria, fruit flies, and humans.

J. Lupski, G. Weinstock, J. Roth, 1996, American journal of human genetics.

Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

B. Otterud, M. Leppert, J. R. Lupski, 1994, Nature Genetics.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2020, The Journal of clinical investigation.

Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.

L. Shaffer, J. Lupski, D. Stockton, 2001, Archives of neurology.

Charcot-Marie-Tooth disease: a gene-dosage effect.

J. Lupski, J. R. Lupski, 1997, Hospital practice.

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

D. J. Driscoll, J. Lupski, P. Patel, 1993, American journal of medical genetics.