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

Saved in:
Bibliographic Details
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
Description
ISSN:2073-4425
DOI:10.3390/genes17060647