James Lupski

Affiliations: 
Molecular and Human Genetics Baylor College of Medicine, Houston, TX 
Google:
"James Lupski"
BETA: Related publications

Publications

You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect.

Pehlivan D, Bengtsson JD, Bajikar SS, et al. (2024) Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Medicine. 16: 146
Rai A, Klonowski J, Yuan B, et al. (2024) Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach. Medrxiv : the Preprint Server For Health Sciences
Du H, Lun MY, Gagarina L, et al. (2024) VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data. Biorxiv : the Preprint Server For Biology
Dardas Z, Marafi D, Duan R, et al. (2024) Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. European Journal of Human Genetics : Ejhg
Grochowski CM, Bengtsson JD, Du H, et al. (2024) Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genomics. 100590
Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, et al. (2024) Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. Bmc Medical Genomics. 17: 85
Lupski J, Dardas Z, Marafi D, et al. (2024) Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Research Square
Shepherdson JL, Hutchison K, Don DW, et al. (2024) Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. American Journal of Human Genetics
Dharmadhikari AV, Abad MA, Khan S, et al. (2024) RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Medrxiv : the Preprint Server For Health Sciences
Poli MC, Rebolledo-Jaramillo B, Lagos C, et al. (2024) Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. European Journal of Human Genetics : Ejhg
See more...