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Works (14)

2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility

The American Journal of Human Genetics
2025-03 | Journal article
DOI: 10.1016/j.ajhg.2025.01.025
Contributors: James R. Lupski
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Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation

2024-12-02 | Preprint
DOI: 10.1101/2024.12.01.24318253
Contributors: Brandon T. Garcia; Lauren Westerfield; Priya Yelemali; Nikhita Gogate; E. Andres Rivera-Munoz; Haowei Du; Moez Dawood; Angad Jolly; James R. Lupski; Jennifer E. Posey
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Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Circulation: Genomic and Precision Medicine
2024-08 | Journal article
DOI: 10.1161/CIRCGEN.124.004614
Contributors: Adam S. Potter; Christina Y. Miyake; Claudia Gonzaga-Jauregui; Yuriana Aguilar-Sanchez; Mohit M. Hulsurkar; Satadru K. Lahiri; Lucia M. Moreira; Neelam Mehta; Mahshid S. Azamian; James R. Lupski et al.
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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature

American Journal of Medical Genetics Part A
2024-03 | Journal article
DOI: 10.1002/ajmg.a.63455
Contributors: Priya T. Bhola; Radha Mishra; Jennifer E. Posey; Leslie E. Hamilton; Gail E. Graham; Jaya Punetha; James R. Lupski; Kym M. Boycott; Damien D'Amours; Kristin D. Kernohan
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β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination

The Journal of Immunology
2024-03-15 | Journal article
DOI: 10.4049/jimmunol.2300671
Contributors: Abigail E Reed; Jackeline Peraza; Frederique van den Haak; Evelyn R Hernandez; Richard A Gibbs; Ivan K Chinn; James R Lupski; Enrica Marchi; Ran Reshef; Bachir Alobeid et al.
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Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

2024-02-19 | Preprint
DOI: 10.21203/rs.3.rs-3949622/v1
Contributors: James Lupski; Zain Dardas; Dana Marafi; Ruizhi Duan; Jawid Fatih; Omnia El-Rashidy; Christopher Grochowski; Claudia Carvalho; Shalini Jhangiani; Weimin Bi et al.
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Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine

Trends in Genetics
2022-06 | Journal article
DOI: 10.1016/j.tig.2022.03.001
Contributors: James R. Lupski
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Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Human Mutation
2022-03-21 | Journal article
DOI: 10.1002/humu.24359
Contributors: Eliete da S. Rodrigues; Sean Griffith; Renan Martin; Corina Antonescu; Jennifer E. Posey; Zeynep Coban‐Akdemir; Shalini N. Jhangiani; Kimberly F. Doheny; James R. Lupski; David Valle et al.
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Clan genomics: From OMIM phenotypic traits to genes and biology

American Journal of Medical Genetics Part A
2021-11 | Journal article
DOI: 10.1002/ajmg.a.62434
Contributors: James R. Lupski
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Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

Acta Cardiologica
2020-12-01 | Journal article
DOI: 10.1080/00015385.2019.1674490
Contributors: Tomas Robyns; Rik Willems; Johan Van Cleemput; Shalini Jhangiani; Donna Muzny; Richard Gibbs; James R. Lupski; Jeroen Breckpot; Koenraad Devriendt; Anniek Corveleyn
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Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human Mutation
2020-11 | Journal article
DOI: 10.1002/humu.24106
Contributors: Maria Pettersson; Christopher M. Grochowski; Josephine Wincent; Jesper Eisfeldt; Amy M. Breman; Sau W. Cheung; Ana C. V. Krepischi; Carla Rosenberg; James R. Lupski; Jesper Ottosson et al.
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Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

American Journal of Medical Genetics Part A
2020-05 | Journal article
DOI: 10.1002/ajmg.a.61539
Contributors: Morasha Plesser Duvdevani; Maria Pettersson; Jesper Eisfeldt; Ortal Avraham; Judith Dagan; Ayala Frumkin; James R. Lupski; Anna Lindstrand; Tamar Harel
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Genetics in Medicine
2017-01 | Journal article
DOI: 10.1038/gim.2016.42
Contributors: Samin A. Sajan; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Gibbs; James R. Lupski; Daniel G. Glaze; Walter E. Kaufmann; Steven A. Skinner; Fran Annese; Michael J. Friez et al.
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Clinical genomics: from a truly personal genome viewpoint

Human Genetics
2016-06 | Journal article
DOI: 10.1007/s00439-016-1682-6
Contributors: James R. Lupski
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Peer review (8 reviews for 4 publications/grants)

Review activity for Cell. (1)
Review activity for Genome medicine. (3)
Review activity for Nature communications (1)
Review activity for Nature genetics. (3)
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