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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G. Menten B, et al. Among authors: mcgillivray bc. J Med Genet. 2007 Apr;44(4):264-8. doi: 10.1136/jmg.2006.047860. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220210 Free PMC article.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Among authors: mcgillivray b. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
Segregation analysis of microcephaly.
Cohen T, Zeitune M, McGillivray BC, Hall JG, Lynn AH, Aston CE, Chakravarti A. Cohen T, et al. Among authors: mcgillivray bc. Am J Med Genet. 1996 Oct 28;65(3):226-34. doi: 10.1002/(SICI)1096-8628(19961028)65:3<226::AID-AJMG11>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 9240749
118 results