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Peer-reviewedLicence not statedGenetics in medicine : official journal of the American College of Medical Genetics

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS

  • Nina B. Gold1,2
  • Britt A. Johnson3
  • Harini Somanchi1
  • Thomas Minten4
  • Stephanie A. Coury5
  • Carrie Blout Zawatsky5,6,7
  • Amber Begtrup3
  • Elizabeth Butler3
  • Katherine G. Langley3
  • Rebekah Zimmerman3
  • Heather M. McLaughlin3
  • Tessa Ellefson3
74 more authors
  • Adriann Kern3
  • Heidi L. Rehm8,9
  • David Bick10
  • Steven E. Brenner11
  • Dalia Kasperaviciute10
  • Roshini S. Abraham12,13
  • Ivona Aksentijevich14
  • Melanie Babinski15
  • Charles J. Billington16
  • Manish J. Butte17
  • Scott W. Canna18,19
  • Makena Caron20
  • Yee-Ming Chan15,2
  • Shanmuganathan Chandrakasan21
  • Samuel C.C. Chiang22,23
  • Ottavia M. Delmonte24
  • Lisa R. Diller25
  • Lilian Downie26
  • Julie Fleischer27
  • Anne Fulton28
  • Rebecca D. Ganetzky19,18
  • Jessica Gold29
  • Raphaela Goldbach-Mansky30
  • Eyal Grunebaum31
  • Rebecca C. Hale28,32
  • Ada Hamosh33
  • Friedhelm Hildebrandt28
  • Alexander M. Holtz34
  • Christina Jacobsen28
  • Matthew J. Kan35
  • Maleewan Kitcharoensakkul36
  • Vilmante Kodyte37,6,7
  • Raymond J. Kreienkamp38,32,7
  • Belinda S. Lennerz28,32
  • Angela E. Lin39
  • Adithya V. Madduri40
  • Joseph A. Majzoub38,32
  • Rebecca A. Marsh
  • David T. Miller
  • Joshua D. Milner
  • Deborah M. Mitchell
  • Brittney Murray
  • Luigi D. Notarangelo24
  • Xiao P. Peng
  • Emily M. Place
  • Craig D. Platt28
  • Sharon E. Plon
  • Scott R. Plotkin

60 listed; 86 in total.

40 affiliations
  1. 1Department of Pediatrics, Massachusetts General Hospital
  2. 2Department of Pediatrics, Harvard Medical School
  3. 3GeneDx, LLC
  4. 4KU Leuven
  5. 5Brigham and Women’s Hospital, Department of Medicine
  6. 6Ariadne Labs
  7. 7Broad Institute of MIT and Harvard, Cambridge, MA
  8. 8Center for Genomic Medicine, Massachusetts General Hospital
  9. 9Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA
  10. 10Genomics England
  11. 11University of California, Berkeley
  12. 12Department of Pathology and Laboratory Medicine, Nationwide Children’s Hospital
  13. 13Department of Pathology, The Ohio State University College of Medicine
  14. 14National Human Genome Research Institute, Bethesda, MD
  15. 15Division of Endocrinology, Department of Pediatrics, Boston Children’s Hospital
  16. 16University of Minnesota, Department of Pediatrics
  17. 17University of California Los Angeles
  18. 18Children’s Hospital of Philadelphia
  19. 19University of Pennsylvania Perelman School of Medicine
  20. 20Dartmouth-Hitchcock Medical Center
  21. 21Emory University School of Medicine
  22. 22Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
  23. 23Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH
  24. 24Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
  25. 25Dana-Farber Cancer Institute
  26. 26Victorian Clinical Genetics Service, Murdoch Children’s Research Institute, Parkville, Victoria, Australia
  27. 27Southern Illinois University School of Medicine
  28. 28Boston Children’s Hospital
  29. 29Northwell Health, Great Neck, NY
  30. 30Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases, National Institutes of Health
  31. 31Division of Immunology and Allergy, Hospital for Sick Children, Toronto, Ontario
  32. 32Harvard Medical School
  33. 33Johns Hopkins University School of Medicine
  34. 34Boston Children’s Hospital, Division of Genetics and Genomics
  35. 35Department of Pediatrics, University of California, San Francisco
  36. 36Division of Rheumatology/Immunology, Department of Pediatrics, Washington University in St. Louis
  37. 37Mass General Brigham
  38. 38Division of Endocrinology, Boston Children’s Hospital
  39. 39Mass General Brigham for Children, Medical Genetics
  40. 40Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA
Read full textDOICite

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Cite

BibTeXRIS
BibTeX
@article{gold2026selection,
  title = {{Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS}},
  author = {Nina B. Gold and Britt A. Johnson and Harini Somanchi and Thomas Minten and Stephanie A. Coury and Carrie Blout Zawatsky and Amber Begtrup and Elizabeth Butler and Katherine G. Langley and Rebekah Zimmerman and Heather M. McLaughlin and Tessa Ellefson and Adriann Kern and Heidi L. Rehm and David Bick and Steven E. Brenner and Dalia Kasperaviciute and Roshini S. Abraham and Ivona Aksentijevich and Melanie Babinski and Charles J. Billington and Manish J. Butte and Scott W. Canna and Makena Caron and Yee-Ming Chan and Shanmuganathan Chandrakasan and Samuel C.C. Chiang and Ottavia M. Delmonte and Lisa R. Diller and Lilian Downie and Julie Fleischer and Anne Fulton and Rebecca D. Ganetzky and Jessica Gold and Raphaela Goldbach-Mansky and Eyal Grunebaum and Rebecca C. Hale and Ada Hamosh and Friedhelm Hildebrandt and Alexander M. Holtz and Christina Jacobsen and Matthew J. Kan and Maleewan Kitcharoensakkul and Vilmante Kodyte and Raymond J. Kreienkamp and Belinda S. Lennerz and Angela E. Lin and Adithya V. Madduri and Joseph A. Majzoub and Rebecca A. Marsh and David T. Miller and Joshua D. Milner and Deborah M. Mitchell and Brittney Murray and Luigi D. Notarangelo and Xiao P. Peng and Emily M. Place and Craig D. Platt and Sharon E. Plon and Scott R. Plotkin},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  year = {2026},
  month = oct,
  doi = {10.1016/j.gim.2026.102777},
  url = {https://doi.org/10.1016/j.gim.2026.102777},
}
RIS
TY  - JOUR
TI  - Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BRIDGES-NBS
AU  - Nina B. Gold
AU  - Britt A. Johnson
AU  - Harini Somanchi
AU  - Thomas Minten
AU  - Stephanie A. Coury
AU  - Carrie Blout Zawatsky
AU  - Amber Begtrup
AU  - Elizabeth Butler
AU  - Katherine G. Langley
AU  - Rebekah Zimmerman
AU  - Heather M. McLaughlin
AU  - Tessa Ellefson
AU  - Adriann Kern
AU  - Heidi L. Rehm
AU  - David Bick
AU  - Steven E. Brenner
AU  - Dalia Kasperaviciute
AU  - Roshini S. Abraham
AU  - Ivona Aksentijevich
AU  - Melanie Babinski
AU  - Charles J. Billington
AU  - Manish J. Butte
AU  - Scott W. Canna
AU  - Makena Caron
AU  - Yee-Ming Chan
AU  - Shanmuganathan Chandrakasan
AU  - Samuel C.C. Chiang
AU  - Ottavia M. Delmonte
AU  - Lisa R. Diller
AU  - Lilian Downie
AU  - Julie Fleischer
AU  - Anne Fulton
AU  - Rebecca D. Ganetzky
AU  - Jessica Gold
AU  - Raphaela Goldbach-Mansky
AU  - Eyal Grunebaum
AU  - Rebecca C. Hale
AU  - Ada Hamosh
AU  - Friedhelm Hildebrandt
AU  - Alexander M. Holtz
AU  - Christina Jacobsen
AU  - Matthew J. Kan
AU  - Maleewan Kitcharoensakkul
AU  - Vilmante Kodyte
AU  - Raymond J. Kreienkamp
AU  - Belinda S. Lennerz
AU  - Angela E. Lin
AU  - Adithya V. Madduri
AU  - Joseph A. Majzoub
AU  - Rebecca A. Marsh
AU  - David T. Miller
AU  - Joshua D. Milner
AU  - Deborah M. Mitchell
AU  - Brittney Murray
AU  - Luigi D. Notarangelo
AU  - Xiao P. Peng
AU  - Emily M. Place
AU  - Craig D. Platt
AU  - Sharon E. Plon
AU  - Scott R. Plotkin
PY  - 2026
DA  - 2026/10/26
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102777
UR  - https://doi.org/10.1016/j.gim.2026.102777
SN  - 1098-3600
SN  - 1530-0366
ER  -