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A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Fertitta L, Bergqvist C, Sarin KY, Plotkin SR, Moertel C, Petersen AK, Cannon A, Berman Y, Pichard DC, Röhl C, Lessing A, Brizion B, Peiffer B, Ravaud P, Tran VT, Armand ML, Moryousef S, Ferkal S, Jannic A, Ezzedine K, Wolkenstein P; Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration. Fertitta L, et al. Among authors: berman y. Br J Dermatol. 2024 Jan 23;190(2):216-225. doi: 10.1093/bjd/ljad397. Br J Dermatol. 2024. PMID: 37877514
Current and Emerging Imaging Techniques for Neurofibromatosis Type 1-Associated Cutaneous Neurofibromas.
Li Y, Blakeley JO, Ly I, Berman Y, Lau J, Wolkenstein P, Bergqvist C, Jia W, Milner TE, Katta N, Durkin AJ, Kennedy GT, Rowland R, Romo CG, Fleming J, Kelly KM. Li Y, et al. Among authors: berman y. J Invest Dermatol. 2023 Aug;143(8):1397-1405. doi: 10.1016/j.jid.2023.03.1681. Epub 2023 Jun 17. J Invest Dermatol. 2023. PMID: 37330718 Free article. Review.
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: berman y. 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.
Incorporating a polygenic risk score-triaged coronary calcium score into cardiovascular disease examinations to identify subclinical coronary artery disease (ESCALATE): Protocol for a prospective, nonrandomized implementation trial.
Gray MP, Berman Y, Bottà G, Grieve SM, Ho A, Hu J, Hyun K, Ingles J, Jennings G, Kilov G, Levesque JF, Meikle P, Redfern J, Usherwood T, Vernon ST, Nicholls SJ, Figtree GA; PPP-CAD Collaborators. Gray MP, et al. Among authors: berman y. Am Heart J. 2023 Oct;264:163-173. doi: 10.1016/j.ahj.2023.06.009. Epub 2023 Jun 25. Am Heart J. 2023. PMID: 37364748 Free article.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Sachdev R, Field M, Baynam GS, Beilby J, Berarducci M, Berman Y, Boughtwood T, Cusack MB, Fitzgerald V, Fletcher J, Freckmann ML, Grainger N, Kirk E, Lundie B, Lunke S, McGregor L, Mowat D, Parasivam G, Tyrell V, Wallis M, White SM, S L Ma A. Sachdev R, et al. Among authors: berman y. J Paediatr Child Health. 2021 Apr;57(4):477-483. doi: 10.1111/jpc.15382. Epub 2021 Feb 10. J Paediatr Child Health. 2021. PMID: 33566436 Free PMC article.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Shah M, Selvanathan A, Baynam G, Berman Y, Boughtwood T, Freckmann ML, Parasivam G, White SM, Grainger N, Kirk EP, Ma AS, Sachdev R. Shah M, et al. Among authors: berman y. J Paediatr Child Health. 2022 Jan;58(1):8-15. doi: 10.1111/jpc.15703. Epub 2021 Aug 23. J Paediatr Child Health. 2022. PMID: 34427008 Free PMC article.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: berman y. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
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