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Page 1
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: parikh s. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: parikh s. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: parikh s. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Trochleoplasty Utilization in the Management of Patellofemoral Instability: Results From an International Survey of Surgeons.
Williams BA, Batley MG, Schlechter JA, Redler LH, Yaniv M, Friel NA, Parikh SN, Pace JL, Shubin Stein BE, Waldron S, Logterman SL, Shea K, Bradley KE, Crawford EA, Greenberg E, Hannon J, Kerrigan A, Kuba MHM, Albaugh J. Williams BA, et al. Among authors: parikh sn. Orthop J Sports Med. 2025 Jan 13;13(1):23259671241303147. doi: 10.1177/23259671241303147. eCollection 2025 Jan. Orthop J Sports Med. 2025. PMID: 39811153 Free PMC article.
Carotid Artery Stenting.
Li J, Feldman DN, Klein AJ, Malas MB, Metzger DC, Parikh SA, Roubin GS, Soukas PA, Tsai S, Gray WA; Members of the SCAI 2024 Think Tank Peripheral Consortium; Bliss C, Brounstein K, Canorea-Vega F, Dean R, Donnelly G, Farrel L, Gleason S, Hughes C, Kohler M, McGonigle J, Minor DJ, Newell A, O'Hara J, Perez O, Rangwala N, Sachar R, Williams J. Li J, et al. Among authors: parikh sa. J Soc Cardiovasc Angiogr Interv. 2024 Dec 19;3(12):102435. doi: 10.1016/j.jscai.2024.102435. eCollection 2024 Dec. J Soc Cardiovasc Angiogr Interv. 2024. PMID: 39807228 Free PMC article. No abstract available.
Anticoagulation Among Patients Hospitalized for COVID-19 : A Systematic Review and Prospective Meta-analysis.
WHO Rapid Evidence Appraisal for COVID-19 Therapies (REACT) Working Group; Vale CL, Godolphin PJ, Fisher DJ, Higgins JPT, McAleenan A, Spiga F, Tritschler T, de Barros E Silva PGM, Berg DD, Berger JS, Berry LR, Bikdeli B, Blondon M, Bohula EA, Cattaneo M, Colombo R, Coluccio V, DeSancho MT, Farkouh ME, Fuster V, Girardis M, Hochman JS, Jensen TP, Jha V, Jüni P, Kirtane AJ, Lawler P, Le Gal G, Lecumberri R, Lentz SR, Lopes RD, Lorenzi E, Marietta M, Miranda CH, Morici N, Morpeth SC, Morrow DA, McQuilten ZK, Muñoz-Rivas N, Neal MD, Pant S, Parikh SA, Perepu U, Sadeghipour P, Sethi S, Sholzberg M, Spyropoulos AC, Stone GW, Talasaz AH, Tong S, Totterdell J, Venkatesh B, Wu MA, Zarychanski R, Zuily S, Viry J, Rylance J, Adhikari NKJ, Diaz JV, Marshall JC, Sterne JAC, Murthy S. WHO Rapid Evidence Appraisal for COVID-19 Therapies (REACT) Working Group, et al. Among authors: parikh sa. Ann Intern Med. 2024 Dec 24. doi: 10.7326/ANNALS-24-00800. Online ahead of print. Ann Intern Med. 2024. PMID: 39715559 Free article. Review.
2,194 results