Publications





Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:




17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
Eur J Hum Genet 2011 Nov 1;19(11):1144-51. Epub 2011 Jun 1.
Department of Pediatrics, Queen's University/Kingston General Hospital, 20 Barrie Street, Kingston, Ontario, Canada.


Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
BMC Med Genet 2007 Jul 26;8:48. Epub 2007 Jul 26.
Centre for Molecular Medicine and Therapeutics, Child & Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 West 28th Ave, Vancouver, V5Z 4H4, Canada.





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