# James R. Lupski

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/james-r-lupski/

## Facts

| Field | Value |
| --- | --- |
| Citations | 88,743 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 146 |
| i10-index | 758 |
| Last Known Institution | Baylor College of Medicine |
| OpenAlex ID | https://openalex.org/A5000612576 |
| ORCID iD | https://orcid.org/0000-0001-9907-9246 |
| Works | 1,077 |

## Researcher papers

Showing 12 of 18.

- [Copy Number Variation in Human Health, Disease, and Evolution](https://scholariq.org/papers/copy-number-variation-in-human-health-disease-and-evolution/)
- [Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy](https://scholariq.org/papers/whole-genome-sequencing-in-a-patient-with-charcot-marie-tooth-neuropathy/)
- [Mechanisms for human genomic rearrangements](https://scholariq.org/papers/mechanisms-for-human-genomic-rearrangements/)
- [Non-coding genetic variants in human disease: Figure 1.](https://scholariq.org/papers/non-coding-genetic-variants-in-human-disease-figure-1/)
- [The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans](https://scholariq.org/papers/the-dna-replication-fostes-mmbir-mechanism-can-generate-genomic-genic-and-exonic/)
- [Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype](https://scholariq.org/papers/characterization-of-potocki-lupski-syndrome-dup-17-p11-2p11-2-and-delineation-of/)
- [A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases](https://scholariq.org/papers/a-drosophila-genetic-resource-of-mutants-to-study-mechanisms-underlying-human/)
- [Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease](https://scholariq.org/papers/genes-that-affect-brain-structure-and-function-identified-by-rare-variant/)
- [Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)](https://scholariq.org/papers/multi-disciplinary-clinical-study-of-smith-magenis-syndrome-deletion-17p11-2/)
- [<i>TBX6</i> Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis](https://scholariq.org/papers/i-tbx6-i-null-variants-and-a-common-hypomorphic-allele-in-congenital-scoliosis/)
- [Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome](https://scholariq.org/papers/autism-and-other-neuropsychiatric-symptoms-are-prevalent-in-individuals-with-i/)
- [Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males](https://scholariq.org/papers/increased-mecp2-gene-copy-number-as-the-result-of-genomic-duplication-in/)

## Researcher topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Chromosomal and Genetic Variations](https://scholariq.org/topics/chromosomal-and-genetic-variations/)

## Researcher university

- [Baylor College of Medicine](https://scholariq.org/institutions/baylor-college-of-medicine/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.