James R. Lupski
Baylor College of Medicine(US)Texas Children's Hospital(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Retinal Diseases and Treatments, Retinal Development and Disorders, Connective tissue disorders research, Genetic factors in colorectal cancer
Most-Cited Works
- → Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome(2000)321 cited
- → Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease(1999)300 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited
- → Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous(1994)179 cited
- → Emergence of a Predominant Clone of Community-Acquired Staphylococcus aureus Among Children in Houston, Texas(2005)133 cited
- → The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial(1999)121 cited
- → Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)(2020)63 cited
- → Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes(2001)39 cited
- → An evaluation of the draft human genome sequence(2001)34 cited
- → (1996)7 cited