Philippe Stanier to Pedigree
This is a "connection" page, showing publications Philippe Stanier has written about Pedigree.
Connection Strength
0.250
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Thomas AC, Williams H, Set?-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):611-21.
Score: 0.114
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Demetriou C, Chanudet E, Joseph A, Topf M, Thomas AC, Bitner-Glindzicz M, Regan L, Stanier P, Moore GE. Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. Hum Mol Genet. 2019 10 15; 28(20):3466-3474.
Score: 0.040
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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.
Score: 0.034
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Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet. 2017 Jan; 13(1):e1006470.
Score: 0.033
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Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet. 2006 Nov; 79(5):859-68.
Score: 0.016
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Braybrook C, Lisgo S, Doudney K, Henderson D, Mar?ano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet. 2002 Oct 15; 11(22):2793-804.
Score: 0.012