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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Among authors: pellecchia g. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. C Yuen RK, et al. Among authors: pellecchia g. Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6. Nat Neurosci. 2017. PMID: 28263302 Free PMC article.
A large data resource of genomic copy number variation across neurodevelopmental disorders.
Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. Zarrei M, et al. Among authors: pellecchia g. NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019. NPJ Genom Med. 2019. PMID: 31602316 Free PMC article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: pellecchia g. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Fehlings DL, et al. Among authors: pellecchia g. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.
Mitina A, Khan M, Lesurf R, Yin Y, Engchuan W, Hamdan O, Pellecchia G, Trost B, Backstrom I, Guo K, Pallotto LM, Lam Doong PH, Wang Z, Nalpathamkalam T, Thiruvahindrapuram B, Papaz T, Pearson CE, Ragoussis J, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Scherer SW, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S, Yuen RKC. Mitina A, et al. Among authors: pellecchia g. EBioMedicine. 2024 Mar;101:105027. doi: 10.1016/j.ebiom.2024.105027. Epub 2024 Feb 27. EBioMedicine. 2024. PMID: 38418263 Free PMC article.
Management of Patients Diagnosed with Endometrial Cancer: Comparison of Guidelines.
Restaino S, Paglietti C, Arcieri M, Biasioli A, Della Martina M, Mariuzzi L, Andreetta C, Titone F, Bogani G, Raimondo D, Perelli F, Buda A, Petrillo M, Greco P, Ercoli A, Fanfani F, Scambia G, Driul L, Vizzielli G; The Udine Hospital Gynecological-Oncological Tumor Board Group. Restaino S, et al. Cancers (Basel). 2023 Feb 8;15(4):1091. doi: 10.3390/cancers15041091. Cancers (Basel). 2023. PMID: 36831434 Free PMC article. Review.
Scar-Free Laparoscopy in BRCA-Mutated Women.
Restaino S, Finelli A, Pellecchia G, Biasioli A, Mauro J, Ronsini C, Martina MD, Arcieri M, Della Corte L, Sorrentino F, Driul L, Vizzielli G. Restaino S, et al. Among authors: pellecchia g. Medicina (Kaunas). 2022 Jul 17;58(7):943. doi: 10.3390/medicina58070943. Medicina (Kaunas). 2022. PMID: 35888662 Free PMC article.
Management for Cervical Cancer Patients: A Comparison of the Guidelines from the International Scientific Societies (ESGO-NCCN-ASCO-AIOM-FIGO-BGCS-SEOM-ESMO-JSGO).
Restaino S, Pellecchia G, Arcieri M, Bogani G, Taliento C, Greco P, Driul L, Chiantera V, Ercoli A, Fanfani F, Fagotti A, Ciavattini A, Scambia G, Vizzielli G; Gynecologic Oncology Group. Restaino S, et al. Among authors: pellecchia g. Cancers (Basel). 2024 Jul 15;16(14):2541. doi: 10.3390/cancers16142541. Cancers (Basel). 2024. PMID: 39061181 Free PMC article. Review.
Simple hysterectomy versus radical hysterectomy in early-stage cervical cancer: A systematic review and meta-analysis.
Taliento C, Scutiero G, Arcieri M, Pellecchia G, Tius V, Bogani G, Petrillo M, Pavone M, Bizzarri N, Driul L, Greco P, Scambia G, Restaino S, Vizzielli G. Taliento C, et al. Among authors: pellecchia g. Eur J Surg Oncol. 2024 Apr;50(4):108252. doi: 10.1016/j.ejso.2024.108252. Epub 2024 Mar 5. Eur J Surg Oncol. 2024. PMID: 38471373 Free article. Review.
98 results