McMaster University

McMaster University

 

Dr. Chumei Li

Director, Clinical Genetics Program

Ph: 905-521-2100 x 73246
Fx: 905 521 2651
Em:lichum@mcmaster.ca


Research Theme

Dysmorphology

  • genetics care delivery

Key words

dysmorphology, overgrowth and failure to thrive, genetic syndromes, genetics care delivery, cardiac genetics

Research Program Overview

  • Genomic copy number variants and their clinical correlations
  • Imprinting disorders in Childhood overgrowth and failure-to-thrive syndromes
  • Hereditary cardiomyopathies and cardiac dysrrhythmias
  • Genetics care delivery
  • Dysmorphic syndromes and underlying genetic etiologies

Current Projects

  • Genomic copy number variants and their clinical correlations
  • Imprinting disorders in Childhood overgrowth and failure-to-thrive syndromes
  • Hereditary cardiomyopathies and cardiac dysrrhythmias
  • Genetics care delivery
  • Dysmorphology

Publications & Achievements

  • 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, 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. 2009 American Journal of Medical Genetics. Accepted.
  • 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. 2009.  American Journal of Medical Genetics.  Accepted.
  • 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 (2009).  Accepted

Secondary Contact

Phone: 905-521-2100 x73246
Email:
Title: Administrative Assistant

 

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