McMaster University

McMaster University

Recent publications from the Division of Clinical Genetics

The Division of Clinical Genetics has four abstracts accepted for publication for the upcoming American College of Medical Genetics meeting in Albuquerque, New Mexico. One of them was by a second year medical student Jessica Rollings-Scattergood, and another two by genetic counselors Susan Zeesman and Marta Szybowska.

2009 Publication List

Book Chapters

  • Khan A, Potter M. Inborn errors of metabolism in Manual of Pediatric Intensive Care (Eds. Kirpalani H, Huang L, Duffet M and Michenko M). 2009 PMPH/BC Decker.
  • Potter M, Li A, Shen F, Chang P. Microencapsulation for the treatment of lysosomal storage disease. The Bioartificial Endocrine Pancreas and Other Biohybrid Therapies (Eds. Halle J, de Vos P and Rosenberg L). 2009 Research Signpost.

Peer-Reviewed Articles

  • Shen F, Mazumder MAJ, Burke NAD, Stöver HDH, Potter MA. Mechanically enhanced microencapsules for cellular gene therapy. Journal of Biomedical Materials Research: Part B - Applied Biomaterials 2009, 90(1):350-61. Mazumder MA, Shen F, Burke NA, Potter MA, Stöver HD. Core-crosslinked alginate microcapsules for cell encapsulation. Biomacromolecules 2009, 10(6):1365-73.
  • Li AA, Hou DY, Shen F, Seidlitz E, Potter MA. Luciferase therapeutic microcapsules for gene therapy. Artificial Cells Blood Substit. Immobil. Biotechnol. 2009, 37(6):235-44.
  • Wang JC, Fisker T, Dang L, Teshima I, Nowaczyk MJ. 4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations. Am J Med Genet A. 2009 Oct;149A(10):2274-9.
  • Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P. Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. Am J Med Genet A. 2009 Mar;149A(3)372-9.
  • Gillis, J., Blaser, S., Miller S and Li, C. Phalangeal Hypoplasia, Mental Retardation, Agenesis of the Corpus Callosum, Brainstem Abnormalities and Ectopic Grey Matter: Unique Case or Newly Recognized Syndrome? Clinical Dysmorphology. 18(3):160-3, 2009
  • Li, C, Di Pierro E, Brancaleoni V, Cappellini M and Steensma D Novel Large Deletion and Three Polymorphisms in the FECH Gene Associated With Erythropoietic Protoporphyria. Clinical Chemistry and Laboratory Medicine.47:44-46, 2009.
  • Li, C, Mernagh J and Bourgeois J. Novel Craniofacial and Extracraniofacial Findings in a Case of Treacher-Collins Syndrome with a Pathogenic Mutation and a Missense Variant in the TCOF1 Gene. Clinical Dysmorphology. 18:63-6, 2009
  • Szybowska M and Li, C. Macrocephaly, Growth Failure, Translucent Skin, Renal cysts, Coarctation of the Aorta and Hepatic fibrosis: Novel features of a New Syndrome - the del17q12 syndrome. Clinical Dysmorphology. 18(3):149-50, 2009
  • Li, C. and McDonald S. Simpson-Golabi-Behmel Syndrome Type I With a Mutation in GPC3 and Increased Nuchal Translucency. Fetal Diagnosis and Therapy. 25(2):211-215, 2009
  • Li, C. A New Syndrome of ankyloglossia and Ulnar Ray Defects in a Newfoundland Kindred. Clinical Dysmorphology. 18(3):158-9, 2009.
  • Li,C. Homozygosity for the Common Mutation c.1085dupT in the ZMPSTE24 Gene in a Mennonite Baby with Restrictive Dermopathy and Abruptio Placenta. American Journal of Medical Genetics. 152A:262-3, 2010
  • Nagamani, S.C.S., Erez. A., Shen, J., Li, C., Roeder, E., Cox, S., Karaviti, L., Pearson, M., Kang, SH.L., Sahoo1, T., Lalani, S.R., Stankiewicz, P., Sutton, V.R., and Cheung, S.W. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. European Journal of Human Genetics 18:278-84, 2010
  • Goh E., Li, C., Horsburgh, S., Kolomietz E., and Morel, CF. The SC phocomelia/Roberts Syndrome Spectrum – A Case Report of an Adult with Review of the Literature. American Journal of Medical Genetics. 152A:472-8, 2010

Peer-Reviewed Abstracts

  • Shawli A, Brick L, Potter MA. Abstract – Minocycline–induced hyperpigmentation misdiagnosed as Alkaptonuria in a patient with ochronosis. Molecular Genetics and Metabolism 2009;98(1-2)p139. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • * Lambourne M, Potter MA. Abstract – Construction of brain-targeted murine &[beta]-galactosidase for application in the treatment of GM1 gangliosidosis: Mouse enzyme less susceptible to proteolytic degradation than human enzyme. Molecular Genetics and Metabolism 2009;98(1-2)p67. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • Khan A, Holland J, Brick L, Pender A, Potter MA. Abstract – Glutamate dehydrogenase deficiency due to a GLUD1 mutation presenting with hyperammonemia and growth hormone deficiency without hyperinsulinism. Molecular Genetics and Metabolism 2009;98(1-2)p129. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • Schwindt JM, Potter MA. Abstract – Brain-targeted therapy for mucopolysaccharidosis type II delivered by microencapsulated recombinant cells. Molecular Genetics and Metabolism 2009;98(1-2)p84. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • Pender A, Brick L, Potter MA. Abstract – Symptomatic Maternal 3-Methylcrotonyl-CoA Carboxylase Deficiency Ascertained from Newborn Screening. Molecular Genetics and Metabolism 2009;98(1-2)p127. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • * Hou DY, Potter MA. Abstract – Microencapsulated brain-targeted therapy for Metachromatic leukodystrophy. Molecular Genetics and Metabolism 2009;98(1-2)p83. The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • Howarth BS, Hou DY, Potter MA. Abstract – In vitro effect of NB-DGJ on arylsulfatase-A deficient fibroblasts. Molecular Genetics and Metabolism 2009;98(1-2)p60 The 11th International Congress of Inborn Errors of Metabolism San Diego, California, USA
  • Potter M, Brick L, Vandermeulen J. Late presentation of autosomal dominant congenital hyperinsulinism due to GCK gene mutation. 2009 American Society of Human Genetics, Honolulu, Oct 20-24, 2009
  • Brick L, Holland J, Vandermeulen J, McAssey K, Potter M. Paternally inherited ABCC8 mutations: The underlying cause of prolonged hyperinsulinism in Beckwith-Wiedemann Syndrome? American Society of Human Genetics, Honolulu, Oct 20-24, 2009
  • Li, C. Increased bone mineral density and body mass index in families of osteogenesis imperfecta: a new type of OI. European Society of Human Genetics June 2009 Vienna, Austria
  • Li, C Microdeletion 2p16.3 associated with familial multi-organ cystic disease in the females without hepatic and renal involvement. American Society of Human Genetics conference Oct 2009 Hawaii.
  • Li, C. Rare diseases and personalized Medicine, the other side of the coin. BIT life sciences 2nd annual congress and expo of molecular diagnostics. Theme: new leadership of personalized medicine, Beijing, November 2009.
  • Jessica Rollings-Scattergood and Chumei Li: Mosaic der(Y)t(Y;1)(q12;q21): a Recurrent Post-Zygotic Chromosomal Anomaly? 2010 American College of Medical genetics conference, Albuquerque, New Mexico
  • Marta Szybowska and Chumei Li: Large Contiguous Deletion Encompassing TWIST1 Gene Associated With Saethre Chotzen Syndrome with Novel Severe Craniofacial Features but Normal Hands. 2010 American College of Medical genetics conference, Albuquerque, New Mexico
  • Susan Zeesman, Marta Szybowska, Chumei Li and Margaret Nowaczyk: Array Comparative Genomic Hybridization Abnormalities in Patients with Intellectual Disabilities: What Proportion are Pathogenic in a Clinical Setting? 2010 American College of Medical genetics conference, Albuquerque, New Mexico
  • Chumei Li: Psychosocial Impairment in a Woman with a Novel Mutation c.862delG/p.E288fs in ARX Gene and Two Affected Sons with Hydranencephaly or Lissencephaly and Ambiguous Genitalia, 2010 American College of Medical genetics conference, Albuquerque, New Mexico

* travel award for trainee

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