James R. Lupski

ScholarGPS® ID: 18378722113557

Affiliation
Baylor College of Medicine, Houston, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Mutation | Human Genetics | Genomics | Medical Genetics | Charcot–Marie–Tooth Disease | Chromosome | Peripheral Neuropathy | Molecular Genetics | DNA | Exome Sequencing | Birth Defect | Copy-number Variation | Human Mutation | Bacteria | Escherichia Coli
Metrics Summary
Publication Count
832
Predicted Citations
87,219
Predicted h-index
145
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders (journal article)
Bozkurt-Yozgatli, Tugce | Pehlivan, Davut | Gibbs, Richard A. | Sezerman, Ugur | Posey, Jennifer E. | Lupski, James R. | Coban-Akdemir, Zeynep
BMC Medical Genomics, volume 17, issue 1 (2024).
10.1186/s12920-024-01852-4
Cite | Source
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy (journal article)
Dardas, Zain | Fatih, Jawid M. | Jolly, Angad | Dawood, Moez | Du, Haowei | Grochowski, Christopher M. | Jones, Edward G. | Jhangiani, Shalini N. | Wehrens, Xander H. T. | Liu, Pengfei | ... | Morris, Shaine A.
Genome Medicine, volume 16, issue 1 (2024).
10.1186/s13073-024-01312-9
Cite | Source
Phenotypic heterogeneity associated with KIF21A : Two new cases and review of the literature (journal article)
Bhola, Priya T. | Mishra, Radha | Posey, Jennifer E. | Hamilton, Leslie E. | Graham, Gail E. | Punetha, Jaya | Lupski, James R. | Boycott, Kym M. | D'Amours, Damien | Kernohan, Kristin D.
American Journal of Medical Genetics Part A, volume 194, issue 3 (2024).
10.1002/ajmg.a.63455
Cited by (1) | Cite | Source
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data (journal article)
Du, Haowei | Dardas, Zain | Jolly, Angad | Grochowski, Christopher M | Jhangiani, Shalini N | Li, He | Muzny, Donna | Fatih, Jawid M | Yesil, Gozde | Elçioglu, Nursel H | ... | Lupski, James R
Nucleic Acids Research, volume 52, issue 4, pages e18-e18 (2024).
10.1093/nar/gkad1223
Cited by (1) | Cite | Source
Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease (book chapter)
In Neurogenetics for the Practitioner
Calame, Daniel G. | Marafi, Dana | Lupski, James R.
Elsevier (2024)
10.1016/B978-0-323-99417-0.00009-4
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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits (journal article)
Duan, Ruizhi | Du, Haowei | Dardas, Zain | Lupski, James
Genetics in Medicine Open, volume 2 (2024).
10.1016/j.gimo.2024.101540
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Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency (journal article)
Alinger, Joshua B. | Mace, Emily M. | Porter, Justin.R. | Mah-Som, Annelise Y. | Daugherty, Allyssa L. | Li, Stephanie | Throm, Allison A. | Pingel, Jeanette T. | Saucier, Nermina | Yao, Albert | ... | French, Anthony R.
Journal of Allergy and Clinical Immunology, volume 153, issue 1, pages 216-229 (2024).
10.1016/j.jaci.2023.09.002
Cited by (4) | Cite | Source
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits (journal article)
Elbendary, Hasnaa M. | Marafi, Dana | Saad, Ahmed K. | Elhossini, Rasha | Duan, Ruizhi | Rafat, Karima | Jhangiani, Shalini N. | Gibbs, Richard A. | Pehlivan, Davut | Calame, Daniel G. | ... | Zaki, Maha S.
Clinical Genetics, volume 104, issue 3, pages 344-349 (2023).
10.1111/cge.14348
Cited by (1) | Cite | Source
Somatic cell structural variant mutagenesis and neurologic disease (journal article)
Lupski, James R.
Cell Genomics, volume 3, issue 8, pages 100376- (2023).
10.1016/j.xgen.2023.100376
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia (journal article)
Zemet, Roni | Du, Haowei | Gambin, Tomasz | Lupski, James R. | Liu, Pengfei | Stankiewicz, Paweł
Human Genetics, volume 142, issue 6, pages 721-733 (2023).
10.1007/s00439-023-02550-4
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CDC45 haploinsufficiency as a novel cause of natural killer cell deficiency (journal article)
Guilz, Nicole C. | Conte, Matilde I | Salinas, S. Andrea | Chinn, Ivan K. | Lupski, James R. | Mace, Emily M
Clinical Immunology, volume 250 (2023).
10.1016/j.clim.2023.109356
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Genomics in Clinical Practice (journal article)
Posey, Jennifer E. | Lupski, James R.
New England Journal of Medicine, volume 388, issue 17, pages 1619-1620 (2023).
10.1056/NEJMe2302643
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Excess folic acid intake increases DNA de novo point mutations (journal article)
Cao, Xuanye | Xu, Jianfeng | Lin, Ying L. | Cabrera, Robert M. | Chen, Qiuying | Zhang, Chaofan | Steele, John W. | Han, Xiao | Gross, Steven S. | Wlodarczyk, Bogdan J. | ... | Lei, Yunping
Cell Discovery, volume 9, issue 1 (2023).
10.1038/s41421-022-00512-0
Cited by (10) | Cite | Source
P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant (journal article)
Sobreira, Nara | Griffith, Sean | Antonescu, Corina | Vail, Laura | Posey, Jennifer | Coban-Akdemir, Zeynep | Jhangiani, Shalini | Doheny, Kimberly | Lupski, James | Valle, David | ... | Martin, Renan
Genetics in Medicine Open, volume 1, issue 1, pages 100734- (2023).
10.1016/j.gimo.2023.100734
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The human story behind human genome sequencing (journal article)
Lupski, James
Futurum Careers (2023).
10.33424/FUTURUM358
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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia (journal article)
Conte, Matilde I. | Poli, M. Cecilia | Taglialatela, Angelo | Leuzzi, Giuseppe | Chinn, Ivan K. | Salinas, Sandra A. | Rey-Jurado, Emma | Olivares, Nixa | Veramendi-Espinoza, Liz | Ciccia, Alberto | ... | Orange, Jordan S.
JCI Insight, volume 7, issue 21 (2022).
10.1172/jci.insight.154948
Cited by (7) | Cite | Source
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits (journal article)
Yuan, Bo | Schulze, Katharina V. | Assia Batzir, Nurit | Sinson, Jefferson | Dai, Hongzheng | Zhu, Wenmiao | Bocanegra, Francia | Fong, Chin-To | Holder, Jimmy | Nguyen, Joanne | ... | Liu, Pengfei
Genome Medicine, volume 14, issue 1 (2022).
10.1186/s13073-022-01113-y
Cited by (4) | Cite | Source
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila (journal article)
Chung, Hyung-Lok | Rump, Patrick | Lu, Di | Glassford, Megan R | Mok, Jung-Wan | Fatih, Jawid | Basal, Adily | Marcogliese, Paul C | Kanca, Oguz | Rapp, Michele | ... | Harel, Tamar
Human Molecular Genetics, volume 31, issue 19, pages 3231-3244 (2022).
10.1093/hmg/ddac053
Cited by (8) | Cite | Source
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms (journal article)
Huang, Yan | Ma, Mengqi | Mao, Xiao | Pehlivan, Davut | Kanca, Oguz | Un-Candan, Feride | Shu, Li | Akay, Gulsen | Mitani, Tadahiro | Lu, Shenzhao | ... | Bellen, Hugo J
Human Molecular Genetics, volume 31, issue 16, pages 2751-2765 (2022).
10.1093/hmg/ddac070
Cited by (3) | Cite | Source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (journal article)
Penon‐Portmann, Monica | Eldomery, Mohammad K. | Potocki, Lorraine | Marafi, Dana | Posey, Jennifer E. | Coban‐Akdemir, Zeynep | Harel, Tamar | Grochowski, Christopher M. | Loucks, Hailey | Devine, Walter Patrick | ... | Shieh, Joseph T.
American Journal of Medical Genetics Part A, volume 188, issue 8, pages 2360-2366 (2022).
10.1002/ajmg.a.62872
Cited by (3) | Cite | Source