Transforming pediatric healthcare through genomic sequencing requires more than just discovery and innovation. Training and mentoring a workforce in genomic medicine is vital to making genetic testing the standard of care. The Institute offers opportunities for researchers and clinicians to expand their genomic literacy and develop expertise in this burgeoning field.
Save the date for the 2021 virtual Frontiers in Pediatric Genomic Medicine Conference: April 21-23, 2021, 8am-1pm PDT. More information to come.
Advancing Precision HealthcareWe are shaping the future of genomic medicine in newborn care with educational offerings for neonatal intensive care unit teams provided by the Vermont Oxford Rady Children’s Genomic Network.
Inside Rapid Precision MedicineIn our monthly education series, top clinicians and researchers share how genomic sequencing is helping to diagnose rare conditions from Infectious disease to pediatric brain disease. Register to watch the videos.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark, Amber Hildreth, Sergey Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna Ellsworth, Brandon Camp, Cyrielle I. Kint, Calum Yacoubian, Lauge Farnaes, Matthew N. Bainbridge, Curtis Beebe, Joshua J. A. Braun, Margaret Bray, Jeanne Carroll, Julie A. Cakici, Sara A. Caylor, Christina Clarke, Mitchell P. Creed, Jennifer Friedman, Alison Frith, Richard Gain, Mary Gaughran, Shauna George, Sheldon Gilmer, Joseph Gleeson, Jeremy Gore, Haiying Grunenwald, Raymond L. Hovey, Marie L. Janes, Kejia Lin, Paul D. McDonagh, Kyle McBride, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Albert Oriol, Laura Puckett, Zia Rady, Martin G. Reese, Julie Ryu, Lisa Salz, Erica Sanford, Lawrence Stewart, Nathaly Sweeney, Mari Tokita, Luca Van Der Kraan, Sarah White, Kristen Wigby, Brett Williams, Terence Wong, Meredith S. Wright, Catherine Yamada, Peter Schols, John Reynders, Kevin Hall, David Dimmock, Narayanan Veeraraghavan, Thomas Defay and Stephen F. Kingsmore
Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177.
Biallelic mutations in valyl-tRNA synthetase gene VARS, are associated with a progressive neurodevelopmental epileptic encephalopathy
Jennifer Friedman, Desiree Smith, Mahmoud Issa, Valentina Stanley, Rengang Wang, Marisa Mendes, Meredith Wright, Kristen Wigby, Amber Hildreth, John Crawford, Alanna Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan Tran, Tarek Omar, Tawfeg Ben-Omran, David Dimmock, Stephen Kingsmore, Gajja Salomons, Maha Zaki, Geneviève Bernard, and Joseph Gleeson
Nat Commun. 2019 Feb 12;10(1):707.
Effect of sociodemographic factors on uptake of a patient-facing information technology family health history risk assessment platform
R Ryanne Wu, MD, MHS1, Rachel A Myers, PhD1, Adam H Buchanan, MS, MPH2 , David Dimmock, MD3, et.al.
Appl Clin Inform 2019; 10(02): 180-188
A meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF
npj Genomic Medicine volume 3, Article number: 16 (2018) doi: 10.1038/s41525-018-0053-8
Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.
Wu RR, Myers RA, Sperber N, Voils CI, Neuner J, McCarty CA, Haller IV, Harry M, Fulda KG, Cross D, Dimmock D, Rakhra-Burris T, Buchanan AH, Ginsburg GS, Orlando LA.
Genet Med. 2018 Jun 6. doi: 10.1038/s41436-018-0049-x. [Epub ahead of print]
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1
Sanford E, Watkins K, Nahas S, Gottschalk M, Coufal NG, Farnaes L, Dimmock D, Kingsmore SF; RCIGM Investigators.
Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002485. doi: 10.1101/mcs.a002485. Print 2018 Jun. PMID: 29437776