James R. Lupski
0000-0001-9907-9246
Publication & Citation Trends
Publications
0 total
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus OA
Cited by 7
Semantic Scholar
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.
Cited by 1
Semantic Scholar
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. OA
Cited by 18
Semantic Scholar
Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus OA
Cited by 0
Semantic Scholar
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide OA
Cited by 30
Semantic Scholar
Diagnostic yield and clinical effects of exome sequencing analysis in patients with early-onset scoliosis OA
Cited by 0
Semantic Scholar
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. OA
Cited by 163
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(319)
Genomics and Rare Diseases
(247)
Hereditary Neurological Disorders
(149)
Genetics and Neurodevelopmental Disorders
(133)
Chromosomal and Genetic Variations
(117)
Affiliations
Kagoshima University
Human Genome Sciences (United States)
Jiangnan University
Northwestern University
Tulane University