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Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

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Title: Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Authors: Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., French C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Truong TK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Hagen J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., McGonigle R; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Geltzeiler A; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Smith L; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA., Irons M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chou J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Immunology, Boston, MA, USA., Stoler J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Rodan L; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Shimamura A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA; Dana Farber Cancer Institute, Boston, MA, USA., Bodamer O; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Soul JS; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Srivastava S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Kennedy AR; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA., Abu-El-Haija A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Lai A; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Olson H; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Juusola J; GeneDx, LLC, Gaithersburg, MD, USA., Ryan E; GeneDx, LLC, Gaithersburg, MD, USA., Friedman B; GeneDx, LLC, Gaithersburg, MD, USA., Singh A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Li C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Mallik R; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Strickland G; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Prinzing G; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Mo A; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., O'Donnell-Luria A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bolton J; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Boone PM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Brucker W; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Duyzend M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Mahida S; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Omorodion J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Petit J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Picker J; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA, USA., Poduri A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wojcik MH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sliz P; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA., Chung WK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: wendy.chung@childrens.harvard.edu.
Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100582. Date of Electronic Publication: 2026 Feb 18.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. 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            NameFull: Mallik R
      – PersonEntity:
          Name:
            NameFull: Strickland G
      – PersonEntity:
          Name:
            NameFull: Prinzing G
      – PersonEntity:
          Name:
            NameFull: Mo A
      – PersonEntity:
          Name:
            NameFull: O'Donnell-Luria A
      – PersonEntity:
          Name:
            NameFull: Bolton J
      – PersonEntity:
          Name:
            NameFull: Boone PM
      – PersonEntity:
          Name:
            NameFull: Brucker W
      – PersonEntity:
          Name:
            NameFull: Duyzend M
      – PersonEntity:
          Name:
            NameFull: Mahida S
      – PersonEntity:
          Name:
            NameFull: Miller DT
      – PersonEntity:
          Name:
            NameFull: Omorodion J
      – PersonEntity:
          Name:
            NameFull: Petit J
      – PersonEntity:
          Name:
            NameFull: Picker J
      – PersonEntity:
          Name:
            NameFull: Poduri A
      – PersonEntity:
          Name:
            NameFull: Carlston C
      – PersonEntity:
          Name:
            NameFull: Wojcik MH
      – PersonEntity:
          Name:
            NameFull: Sliz P
      – PersonEntity:
          Name:
            NameFull: Chung WK
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 04
              Text: 2026 Apr 09
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2666-2477
          Numbering:
            – Type: volume
              Value: 7
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: HGG advances
              Type: main
ResultId 1