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Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

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Title: Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.
Authors: Brownstein CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Madden JA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chin J; GeneDx, LLC, Gaithersburg, MD 20877, USA., Ustach VD; GeneDx, LLC, Gaithersburg, MD 20877, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Madden A; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Edisis N; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Li H; Department of Data Science, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA., Johnson DA; GeneDx, LLC, Gaithersburg, MD 20877, USA., McWalter K; GeneDx, LLC, Gaithersburg, MD 20877, USA., Noya J; GeneDx, LLC, Gaithersburg, MD 20877, USA., Schmitz-Abe K; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA., Rockowitz S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA 02115, USA., Agrawal PB; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA., Newman S; GeneDx, LLC, Gaithersburg, MD 20877, USA., Devaney JM; GeneDx, LLC, Gaithersburg, MD 20877, USA., Kruszka P; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Division of Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Source: Genes [Genes (Basel)] 2026 May 31; Vol. 17 (6). Date of Electronic Publication: 2026 May 31.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.
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  Data: <searchLink fieldCode="AU" term="%22Brownstein+CA%22">Brownstein CA</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Madden+JA%22">Madden JA</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Shao+W%22">Shao W</searchLink>; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Chin+J%22">Chin J</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Ustach+VD%22">Ustach VD</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Madden+A%22">Madden A</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Edisis+N%22">Edisis N</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Department of Data Science, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215, USA.<br /><searchLink fieldCode="AU" term="%22Johnson+DA%22">Johnson DA</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Noya+J%22">Noya J</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Schmitz-Abe+K%22">Schmitz-Abe K</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Rockowitz+S%22">Rockowitz S</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Holtz Children's Hospital, Jackson Health System, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Newman+S%22">Newman S</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Devaney+JM%22">Devaney JM</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Division of Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 May 31; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 May 31.
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