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Page 1
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: strom sp. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: strom sp. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L, Verbrugge J, Schwantes-An TH, Schulze J, Foroud T, Hall A, Marder KS, Mata IF, Mencacci NE, Nance MA, Schwarzschild MA, Simuni T, Bressman S, Wills AM, Fernandez HH, Litvan I, Lyons KE, Shill HA, Singer C, Tropea TF, Vanegas Arroyave N, Carbonell J, Cruz Vicioso R, Katus L, Quinn JF, Hodges PD, Meng Y, Strom SP, Blauwendraat C, Lohmann K, Casaceli C, Rao SC, Ghosh Galvelis K, Naito A, Beck JC, Alcalay RN. Cook L, et al. Among authors: strom sp. Brain. 2024 Aug 1;147(8):2668-2679. doi: 10.1093/brain/awae142. Brain. 2024. PMID: 39074992 Free PMC article.
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, Della Ripa Rodrigues Assis B, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Strom SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering KC, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: strom sp. Genet Med Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. eCollection 2025. Genet Med Open. 2025. PMID: 40496713 Free PMC article.
36 results