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Page 1
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.
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Martignetti JA, et al. Among authors: mcpherson ew. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731542 Free PMC article.
A missense T (Brachyury) mutation contributes to vertebral malformations.
Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF. Ghebranious N, et al. J Bone Miner Res. 2008 Oct;23(10):1576-83. doi: 10.1359/jbmr.080503. J Bone Miner Res. 2008. PMID: 18466071 Free article.
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. 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.
Clinical genetics provider real-time workflow study.
McPherson E, Zaleski C, Benishek K, McCarty CA, Giampietro PF, Reynolds K, Rasmussen K. McPherson E, et al. Genet Med. 2008 Sep;10(9):699-706. doi: 10.1097/gim.0b013e318182206f. Genet Med. 2008. PMID: 18978682
Robinow syndrome with variable neurologic features.
McPherson E, Zaleski C, Giampietro PF. McPherson E, et al. Genet Med. 2006 Jan;8(1):59-60. doi: 10.1097/01.gim.0000195294.57969.92. Genet Med. 2006. PMID: 16418601 Free article. No abstract available.
DLL3 as a candidate gene for vertebral malformations.
Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD. Giampietro PF, et al. Am J Med Genet A. 2006 Nov 15;140(22):2447-53. doi: 10.1002/ajmg.a.31509. Am J Med Genet A. 2006. PMID: 17041936
64 results