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Page 1
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: raskin s. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: raskin s. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: raskin s. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: raskin s. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Clinical characteristics and outcome of central nervous system tumors harboring NTRK gene fusions.
Lamoureux AA, Fisher MJ, Lemelle L, Pfaff E, Amir-Yazdani P, Kramm C, De Wilde B, Kazanowska B, Hutter C, Pfister SM, Sturm D, Jones DTW, Orbach D, Pierron G, Raskin S, Drilon A, Diamond EL, Harada G, Zapotocky M, Zamecnik J, Krskova L, Ellezam B, Weil AG, Venne D, Barritault M, Leblond P, Coltin H, Hammad R, Tabori U, Hawkins C, Hansford JR, Meyran D, Erker C, McFadden K, Sato M, Gottardo NG, Dholaria H, Nørøxe DS, Goto H, Ziegler DS, Lin FY, Parsons DW, Lindsay H, Wong TT, Liu YL, Wu KS, Franson AT, Hwang E, Aguilar-Bonilla A, Cheng S, Cacciotti C, Massimino M, Schiavello E, Wood P, Hoffman LM, Cappellano A, Lassaletta A, Van Damme A, Llort A, Gerber NU, Spalato Ceruso M, Bendel AE, Skrypek M, Hamideh D, Mushtaq N, Walter A, Jabado N, Alsahlawi A, Farmer JP, Coleman C, Mueller S, Mazewski C, Aguilera D, Robison NJ, O'Halloran K, Abbou S, Berlanga P, Geoerger B, Øra I, Moertel CL, Razis ED, Vernadou A, Ducray F, Bronnimann C, Seizeur R, Clarke M, Resnick AC, Alves M, Jones C, Doz F, Laetsch TW, Perreault S. Lamoureux AA, et al. Among authors: raskin s. Clin Cancer Res. 2024 Dec 3. doi: 10.1158/1078-0432.CCR-24-0581. Online ahead of print. Clin Cancer Res. 2024. PMID: 39625867
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM. Giugliani R, et al. Among authors: raskin s. Orphanet J Rare Dis. 2024 Nov 26;19(1):436. doi: 10.1186/s13023-024-03463-9. Orphanet J Rare Dis. 2024. PMID: 39593190 Free PMC article.
Commissioning of a novel gantry-less proton therapy system.
Feldman J, Pryanichnikov A, Achkienasi A, Polyansky I, Hillman Y, Raskin S, Blumenfeld P, Popovtzer A, Marash M. Feldman J, et al. Among authors: raskin s. Front Oncol. 2024 Nov 7;14:1417393. doi: 10.3389/fonc.2024.1417393. eCollection 2024. Front Oncol. 2024. PMID: 39575421 Free PMC article.
Ibrutinib With Bendamustine and Rituximab for Treatment of Patients With Relapsed/Refractory Aggressive B-Cell Lymphoma.
Kedmi M, Ribakovsy E, Benjamini O, Schiby G, Barshack I, Raskin S, Eshet Y, Mehr R, Horowitz N, Gurion R, Goldschmidt N, Perry C, Levi I, Aviv A, Herzog-Tzarfati K, Nagler A, Avigdor A. Kedmi M, et al. Among authors: raskin s. Hematol Oncol. 2024 Nov;42(6):e70001. doi: 10.1002/hon.70001. Hematol Oncol. 2024. PMID: 39572395 Clinical Trial.
345 results