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Page 1
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Solomon BD, et al. Among authors: mcpherson e. J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2. J Med Genet. 2010. PMID: 19955556 Free PMC article.
Sacral tumors in Schinzel-Giedion syndrome.
McPherson E, Clemens M, Hoffner L, Surti U. McPherson E, et al. Am J Med Genet. 1998 Aug 27;79(1):62-3. Am J Med Genet. 1998. PMID: 9738870 No abstract available.
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E. Clemens M, et al. Among authors: mcpherson e. Am J Med Genet. 1996 Dec 2;66(1):95-100. doi: 10.1002/(SICI)1096-8628(19961202)66:1<95::AID-AJMG26>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8957524
Further delineation of the Baller-Gerold syndrome.
Lin AE, McPherson E, Nwokoro NA, Clemens M, Losken HW, Mulvihill JJ. Lin AE, et al. Among authors: mcpherson e. Am J Med Genet. 1993 Feb 15;45(4):519-24. doi: 10.1002/ajmg.1320450423. Am J Med Genet. 1993. PMID: 8465861 Review.
SeqHBase: a big data toolset for family based sequencing data analysis.
He M, Person TN, Hebbring SJ, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin SM, Peissig PL, Brilliant MH, O'Rawe J, Robison RJ, Lyon GJ, Wang K. He M, et al. Among authors: mcpherson ew. J Med Genet. 2015 Apr;52(4):282-8. doi: 10.1136/jmedgenet-2014-102907. Epub 2015 Jan 13. J Med Genet. 2015. PMID: 25587064 Free PMC article.
230 results