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Year Number of Results
2016 3
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2019 3
2020 1
2021 1
2022 1
2023 3
2024 0

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Page 1
Recommendations for centers performing pediatric heart surgery in the United States.
Backer CL, Overman DM, Dearani JA, Romano JC, Tweddell JS, Kumar SR, Marino BS, Bacha EA, Jaquiss RDB, Zaidi AN, Gurvitz M, Costello JM, Pierick TA, Ravekes WJ, Reagor JA, St Louis JD, Spaeth J, Mahle WT, Shin AY, Lopez KN, Karamlou T, Welke KF, Bryant R, Husain SA, Chen JM, Kaza A, Wells WJ, Glatz AC, Cohen MI, McElhinney DB, Parra DA, Pasquali SK. Backer CL, et al. J Thorac Cardiovasc Surg. 2023 Dec;166(6):1782-1820. doi: 10.1016/j.jtcvs.2023.09.001. Epub 2023 Sep 29. J Thorac Cardiovasc Surg. 2023. PMID: 37777958
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli… See abstract for full author list ➔ Koczkowska M, et al. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Recommendations for Centers Performing Pediatric Heart Surgery in the United States.
Backer CL, Overman DM, Dearani JA, Romano JC, Tweddell JS, Kumar SR, Marino BS, Bacha EA, Jaquiss RDB, Zaidi AN, Gurvitz M, Costello JM, Pierick TA, Ravekes WJ, Reagor JA, St Louis JD, Spaeth J, Mahle WT, Shin AY, Lopez KN, Karamlou T, Welke KF, Bryant R, Husain SA, Chen JM, Kaza A, Wells WJ, Glatz AC, Cohen MI, McElhinney DB, Parra DA, Pasquali SK. Backer CL, et al. Ann Thorac Surg. 2023 Nov;116(5):871-907. doi: 10.1016/j.athoracsur.2023.08.016. Epub 2023 Sep 29. Ann Thorac Surg. 2023. PMID: 37777933
Recommendations for Centers Performing Pediatric Heart Surgery in the United States.
Backer CL, Overman DM, Dearani JA, Romano JC, Tweddell JS, Ram Kumar S, Marino BS, Bacha EA, Jaquiss RDB, Zaidi AN, Gurvitz M, Costello JM, Pierick TA, Ravekes WJ, Reagor JA, St Louis JD, Spaeth J, Mahle WT, Shin AY, Lopez KN, Karamlou T, Welke KF, Bryant R, Adil Husain S, Chen JM, Kaza A, Wells WJ, Glatz AC, Cohen MI, McElhinney DB, Parra DA, Pasquali SK. Backer CL, et al. World J Pediatr Congenit Heart Surg. 2023 Sep;14(5):642-679. doi: 10.1177/21501351231190353. World J Pediatr Congenit Heart Surg. 2023. PMID: 37737602
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Young people's exposure to point-of-sale tobacco products and promotions.
Stead M, Eadie D, MacKintosh AM, Best C, Miller M, Haseen F, Pearce JR, Tisch C, Macdonald L, MacGregor A, Amos A, van der Sluijs W, Frank JW, Haw S. Stead M, et al. Public Health. 2016 Jul;136:48-56. doi: 10.1016/j.puhe.2016.03.032. Epub 2016 May 10. Public Health. 2016. PMID: 27178132 Free article.
Pancreatic Pain-Knowledge Gaps and Research Opportunities in Children and Adults: Summary of a National Institute of Diabetes and Digestive and Kidney Diseases Workshop.
Uc A, Andersen DK, Apkarian AV, Bellin MD, Colloca L, Drewes AM, Dunbar EK, Forsmark CE, Goodman MT, Kapural L, Koob GF, Palermo TM, Pandol SJ, Pasricha P, Phillips AE, Piomelli D, Saloman JL, Schwarzenberg SJ, Singh VK, Sowa G, Strouse T, Treisman GJ, Windsor JA, Yadav D. Uc A, et al. Pancreas. 2021 Aug 1;50(7):906-915. doi: 10.1097/MPA.0000000000001899. Pancreas. 2021. PMID: 34643606 Free PMC article.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8. Genet Med. 2019. PMID: 30275510 Free PMC article.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
12 results