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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Assis BDRR, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Samuel SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering K, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: coffey aj. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: coffey aj. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
Co-designing an interprofessional digital education resource on delirium: a student-led approach.
Wilson CB, Anderson T, Graham M, Murphy J, Mitchell G, Tuohy D, Barry HE, Boland P, Birch M, Tierney A, Stark P, McCurtin A, Creighton L, Henderson E, Craig S, McConnell H, Guttridge H, Cook L, Cunningham E, Curran GM, Coffey A. Wilson CB, et al. Among authors: coffey a. BMC Med Educ. 2024 Oct 10;24(1):1122. doi: 10.1186/s12909-024-06023-8. BMC Med Educ. 2024. PMID: 39390517 Free PMC article.
Distinct Longitudinal Changes in EEG Measures Reflecting Functional Network Disruption in ALS Cognitive Phenotypes.
Metzger M, Dukic S, McMackin R, Giglia E, Mitchell M, Bista S, Costello E, Peelo C, Tadjine Y, Sirenko V, McManus L, Buxo T, Fasano A, Chipika R, Pinto-Grau M, Schuster C, Heverin M, Coffey A, Broderick M, Iyer PM, Mohr K, Gavin B, Pender N, Bede P, Muthuraman M, Hardiman O, Nasseroleslami B. Metzger M, et al. Among authors: coffey a. Brain Topogr. 2024 Oct 4;38(1):3. doi: 10.1007/s10548-024-01078-8. Brain Topogr. 2024. PMID: 39367160 Free PMC article.
546 results