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Page 1
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G, Brunetti-Pierri N, Clift P, Learn C, Dykes JC, Mercer CL, Callewaert B, Meerschaut I, Spinelli AM, Bruno I, Gillespie MJ, Dorfman AT, Grimberg A, Lindsay ME, Lin AE. Cappuccio G, et al. Among authors: dorfman at. Am J Med Genet A. 2022 May;188(5):1384-1395. doi: 10.1002/ajmg.a.62645. Epub 2022 Jan 13. Am J Med Genet A. 2022. PMID: 35025139
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME; MGH Myhre Syndrome Study Group. Lin AE, et al. Among authors: dorfman at. Am J Med Genet A. 2024 Oct;194(10):e63638. doi: 10.1002/ajmg.a.63638. Epub 2024 May 23. Am J Med Genet A. 2024. PMID: 38779990 Free PMC article.
The Turner syndrome research registry: Creating equipoise between investigators and participants.
Prakash SK, Lugo-Ruiz S, Rivera-Dávila M, Rubio N Jr, Shah AN, Knickmeyer RC, Scurlock C, Crenshaw M, Davis SM, Lorigan GA, Dorfman AT, Rubin K, Maslen C, Bamba V, Kruszka P, Silberbach M; Scientific Advisory Board of the TSRR. Prakash SK, et al. Among authors: dorfman at. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):135-140. doi: 10.1002/ajmg.c.31689. Epub 2019 Feb 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 30758128 Free PMC article.
Critical heart disease in the neonate: presentation and outcome at a tertiary care center.
Dorfman AT, Marino BS, Wernovsky G, Tabbutt S, Ravishankar C, Godinez RI, Priestley M, Dodds KM, Rychik J, Gruber PJ, Gaynor JW, Levy RJ, Nicolson SC, Montenegro LM, Spray TL, Dominguez TE. Dorfman AT, et al. Pediatr Crit Care Med. 2008 Mar;9(2):193-202. doi: 10.1097/PCC.0b013e318166eda5. Pediatr Crit Care Med. 2008. PMID: 18477933