Juarez E, Peterson B, Kobayashi E, Gilmer S, Tobin L, Schultz B
NPJ Digit Med. 2025; 8(1):72.
PMID: 39885315
PMC: 11782664.
DOI: 10.1038/s41746-025-01458-9.
Schnoll R, Bekelman J, Blumenthal D, Asch D, Buttenheim A, Chaiyachati K
J Clin Transl Sci. 2024; 8(1):e166.
PMID: 39619072
PMC: 11604509.
DOI: 10.1017/cts.2024.554.
Feddema J, Fernald K, Keijser B, Kieboom J, van de Burgwal L
Diagnostics (Basel). 2024; 14(17).
PMID: 39272630
PMC: 11394392.
DOI: 10.3390/diagnostics14171845.
Piers L, Wainstein T, Pelligra G, Osiovich H, GenCOUNSEL Study , Elliott A
Children (Basel). 2024; 11(8).
PMID: 39201845
PMC: 11352610.
DOI: 10.3390/children11080910.
Raper A, Weathers B, Drivas T, Ellis C, Kripke C, Oyer R
Implement Sci. 2024; 19(1):61.
PMID: 39160614
PMC: 11331805.
DOI: 10.1186/s13012-024-01385-5.
A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.
Juarez E, Peterson B, Kobayashi E, Gilmer S, Tobin L, Schultz B
medRxiv. 2024; .
PMID: 39006422
PMC: 11245077.
DOI: 10.1101/2024.07.05.24310008.
"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs.
DGama A, Wojcik M, Hills S, Douglas J, Yu T, Agrawal P
Genet Med. 2024; 26(9):101177.
PMID: 38855852
PMC: 11380591.
DOI: 10.1016/j.gim.2024.101177.
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R
Eur J Hum Genet. 2024; 32(9):1106-1115.
PMID: 38605122
PMC: 11369102.
DOI: 10.1038/s41431-024-01569-z.
Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices.
Symecko H, Schnoll R, Beidas R, Bekelman J, Blumenthal D, Bauer A
Implement Sci. 2023; 18(1):57.
PMID: 37932730
PMC: 10629034.
DOI: 10.1186/s13012-023-01308-w.
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.
Vears D, Lynch F, Nisselle A, Ayres S, Stark Z
Eur J Hum Genet. 2023; 32(2):150-154.
PMID: 37864047
PMC: 10853566.
DOI: 10.1038/s41431-023-01477-8.
Genomic medicine in neonatal care: progress and challenges.
DGama A, Agrawal P
Eur J Hum Genet. 2023; 31(12):1357-1363.
PMID: 37789085
PMC: 10689757.
DOI: 10.1038/s41431-023-01464-z.
Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
Wojcik M, Callahan K, Antoniou A, Del Rosario M, Brunelli L, ElHassan N
Genet Med. 2023; 25(10):100926.
PMID: 37422715
PMC: 10592224.
DOI: 10.1016/j.gim.2023.100926.
Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
Nurchis M, Raspolini G, Heidar Alizadeh A, Altamura G, Radio F, Tartaglia M
J Pers Med. 2023; 13(6).
PMID: 37373888
PMC: 10304348.
DOI: 10.3390/jpm13060899.
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
Reiley J, Botas P, Miller C, Zhao J, Jenkins S, Best H
Children (Basel). 2023; 10(6).
PMID: 37371223
PMC: 10296792.
DOI: 10.3390/children10060991.
The Gap Between AI and Bedside: Participatory Workshop on the Barriers to the Integration, Translation, and Adoption of Digital Health Care and AI Startup Technology Into Clinical Practice.
Olaye I, Seixas A
J Med Internet Res. 2023; 25():e32962.
PMID: 37129947
PMC: 10189623.
DOI: 10.2196/32962.
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Lumaka A, Fasquelle C, Debray F, Alkan S, Jacquinet A, Harvengt J
Int J Mol Sci. 2023; 24(4).
PMID: 36835410
PMC: 9967120.
DOI: 10.3390/ijms24044003.
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.
DGama A, Agrawal P
J Perinatol. 2023; 43(7):963-967.
PMID: 36774516
PMC: 9918837.
DOI: 10.1038/s41372-023-01630-7.
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Bupp C, Ames E, Arenchild M, Caylor S, Dimmock D, Fakhoury J
Children (Basel). 2023; 10(1).
PMID: 36670656
PMC: 9857227.
DOI: 10.3390/children10010106.
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
DGama A, Del Rosario M, Bresnahan M, Yu T, Wojcik M, Agrawal P
NPJ Genom Med. 2022; 7(1):51.
PMID: 36064943
PMC: 9441819.
DOI: 10.1038/s41525-022-00326-9.
Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery.
Lynch F, Nisselle A, Stark Z, Gaff C, McClaren B
Eur J Hum Genet. 2022; 30(11):1276-1282.
PMID: 35953518
PMC: 9626620.
DOI: 10.1038/s41431-022-01168-w.