ArticleAdvanced genetics (Hoboken, N.J.)2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).
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Article in Advanced genetics (Hoboken, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
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Who cites it
3 citing papers in PubMed.
- Neurological and Neuropsychiatric Manifestations of Pediatric Inflammatory Multisystem Syndrome (PIMS/MIS-C): A Narrative Review.Journal of personalized medicine · 2026Review
- Association of blood group B and of rare variants affecting immune system with multisystem inflammatory syndrome in children in an Italian cohort.Frontiers in immunology · 2026Article
- Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).Advanced genetics (Hoboken, N.J.) · 2025Article
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Authors and funding
58 authors.
Catherine A BrownsteinDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.ORCID https://orcid.org/0000-0002-7371-0340
Caspar I van der MadeDepartment of Human Genetics Radboud University Medical Center Nijmegen the Netherlands.ORCID https://orcid.org/0000-0003-0763-4017
Kristin CabralDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Shira RockowitzDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.ORCID https://orcid.org/0000-0003-1490-592X
Donghun KangDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Maximilian SchieckCAIMed - Lower Saxony Center for Artificial Intelligence and Causal Methods in Medicine (CAIMed) Hannover Germany.ORCID https://orcid.org/0000-0001-5878-0546
Andy Wing Chun PangBionano Genomics San Diego California USA.
Jeffrey M RobinsonBionano Genomics San Diego California USA.
Alex R HastieBionano Genomics San Diego California USA.ORCID https://orcid.org/0000-0002-6401-5864
Alka ChaubeyBionano Genomics San Diego California USA.
C.O.V.I.D19hostgenomeS.V. Consortium
Alexander HoischenDepartment of Human Genetics Radboud University Medical Center Nijmegen the Netherlands.
Alan H BeggsDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Clement A AdebamowoDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Ali AndalibiDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Silviu-Alin BacanuDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Vineet BafnaDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Justin BahlDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Hayk BarseghyanDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Alan BeggsDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Laurie BurdetteDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Manish ButteDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Pantelis ConstantoulakisDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Keith A CrandallDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Siavash R DehkordiDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Megan DennisDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Gang FangDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Olivier FedrigoDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Darren FinlayDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Michael A GoldmanDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Umamaheswaran GurusamyDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Vanessa HayesDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Glenn HickeyDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Alexander HoischenDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Thomas IlligDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.ORCID https://orcid.org/0000-0003-4284-5389
Alexander IoannidisDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Erich JarvisDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Naoru KoizumiDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Ravindra KolheDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Meriem LaamartiDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Celia LabrancheDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Sandra LeibelDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Brynn LevyDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Matthew LooseDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Claudio MelloDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Jamal NasirDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Thuy L PhungDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Chethan P Venkatasubba RaoDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Ted RossDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Nikhil S SahajpalDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Rashmi K ShamannaDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Daniela C SotoDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Amir TrablesiDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Zi-Xuan WangDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Sion Llewelyn WilliamsDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Victoria WrightDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Hua ZhaoDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Michael ZodyDivision of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.
Funding
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4MNICHD NIH HHS P50 HD105351
Abstract
Multisystem inflammatory syndrome in children (MIS-C) is a pediatric complication of SARS-CoV-2 infection characterized by multiorgan inflammation and frequently by cardiovascular dysfunction. In a single-center prospective cohort study, optical genome mapping (OGM) was performed on 14 patients, including 11 meeting CDC criteria for MIS-C and 3 with MIS-C-like (MIS-CL) presentations. SVs and CNVs were filtered against population and internal OGM control databases. Seven patients (50%) harbored prioritized variants within or near genes implicated in immune regulation or SARS-CoV-2 response. These included intronic insertions or deletions in
Indexed as
MIS‐Coptical genome mappingSARS‐CoV‐2
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.