Below are the most recent publications written about "Facies" by people in Profiles.
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Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban CM, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K. 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome. Genes (Basel). 2025 Jan 24; 16(2).
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Wood KA, Tong RS, Motta M, Cordeddu V, Scimone ER, Bush SJ, Maxwell DW, Giannoulatou E, Caputo V, Traversa A, Mancini C, Ferrero GB, Benedicenti F, Grammatico P, Melis D, Steindl K, Brunetti-Pierri N, Trevisson E, Wilkie AO, Lin AE, Cormier-Daire V, Twigg SR, Tartaglia M, Goriely A. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline. Am J Hum Genet. 2024 Sep 05; 111(9):1953-1969.
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Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir S, Arslan Ates E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S, Lin AE, Callewaert B. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. Eur J Hum Genet. 2024 Sep; 32(9):1086-1094.
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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. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023). Am J Med Genet A. 2024 Oct; 194(10):e63638.
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Sirohi N, Duker AL, Bober MB, DeFelice ML. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III. J Clin Immunol. 2023 07; 43(5):895-897.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 10; 188(10):3084-3088.
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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. Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects. Am J Med Genet A. 2022 05; 188(5):1384-1395.
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Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
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Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 05; 185(5):1486-1493.
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Lin AE, Brunetti-Pierri N, Callewaert B, Cormier-Daire V, Douzgou S, Kinane TB, Lindsay ME, Starr LJ. Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification. Geroscience. 2021 04; 43(2):459-461.