James Lupski
Affiliations: | Molecular and Human Genetics | Baylor College of Medicine, Houston, TX |
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"James Lupski"Children
Sign in to add traineeLawrence T. Reiter | grad student | Baylor College of Medicine | |
Feng Zhang | grad student | Baylor College of Medicine | |
Christine R. Beck | post-doc | 2012-2017 | Baylor College of Medicine (Cell Biology Tree) |
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Publications
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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 |