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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Tan TY, et al. Among authors: farlie pg. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198724 Free PMC article.
Rare syndromes of the head and face-Pierre Robin sequence.
Tan TY, Farlie PG. Tan TY, et al. Among authors: farlie pg. Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):369-77. doi: 10.1002/wdev.69. Epub 2012 May 14. Wiley Interdiscip Rev Dev Biol. 2013. PMID: 23799581
Long-range regulation at the SOX9 locus in development and disease.
Gordon CT, Tan TY, Benko S, Fitzpatrick D, Lyonnet S, Farlie PG. Gordon CT, et al. Among authors: farlie pg. J Med Genet. 2009 Oct;46(10):649-56. doi: 10.1136/jmg.2009.068361. Epub 2009 May 26. J Med Genet. 2009. PMID: 19473998 Review.
Developmental and genetic perspectives on Pierre Robin sequence.
Tan TY, Kilpatrick N, Farlie PG. Tan TY, et al. Among authors: farlie pg. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):295-305. doi: 10.1002/ajmg.c.31374. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127256 Review.
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: farlie pg. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380
50 results