Below are the most recent publications written about "Facies" by people in Profiles.
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Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.
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Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Am J Med Genet A. 2018 03; 176(3):668-675.
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Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. Wieacker-Wolff syndrome with associated cleft palate in a female case. Am J Med Genet A. 2018 01; 176(1):167-170.
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Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, G?nther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. Eur J Hum Genet. 2017 10; 25(10):1126-1133.
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Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016 12; 170(12):3313-3318.
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Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A. 2011 Sep; 155A(9):2186-95.
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Holmes LB, Coull BA, Dorfman J, Rosenberger PB. The correlation of deficits in IQ with midface and digit hypoplasia in children exposed in utero to anticonvulsant drugs. J Pediatr. 2005 Jan; 146(1):118-22.