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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. Clark MM, et al. Among authors: white s. Sci Transl Med. 2019 Apr 24;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177. Sci Transl Med. 2019. PMID: 31019026 Free PMC article.
Pneumonectomy Space Infection After Thoracic Duct Embolization.
Guns W, Seadler BD, Linsky PL, White SB, Gasparri MG. Guns W, et al. Among authors: white sb. Ann Thorac Surg Short Rep. 2024 Jan 20;2(2):181-184. doi: 10.1016/j.atssr.2023.12.016. eCollection 2024 Jun. Ann Thorac Surg Short Rep. 2024. PMID: 39790169 Free PMC article.
A blended learning approach for capacity strengthening to improve the quality of integrated HIV, TB, and malaria services during antenatal and postnatal care in LMICs: a feasibility study.
Ladur AN, Egere U, Ravit M, Mgawadere F, Murray C, White SA, Hauwa M, Mutai R, Nyaga L, Duncan S, Bashir I, Ayinde OO, Bakar R, Katalambula L, Federici C, Torbica A, Furtado N, Kumah EA, Ameh C. Ladur AN, et al. Among authors: white sa. BMC Med Educ. 2025 Jan 8;25(1):35. doi: 10.1186/s12909-024-06633-2. BMC Med Educ. 2025. PMID: 39780210 Free PMC article.
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Tan TY, Thorburn DR, White SM; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Vilain E, Lek M, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: white sm. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.
6,487 results