McMaster University

McMaster University

Dr. Chumei Li's Selected Publications

  • Li, C. Personalized medicine – the Promised Land: are we there yet? Clin Genet 2010 Dec epub ahead of print.
  • Li, C and Szybowska M, A novel mutation c.4003G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features.  Am J. Med. Genet 2010; 152A:2939-41
  • Li, C. A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der (Y)t(Y;1)(q12;q21. Am J. Med. Genet 2010; 152A2339-41
  • Friedrich, K., Lee. L., Leistritz, D.F., Nurnberg, G., Saha,B., Hisama, F..M., Eyman,D.K., Lessel, D., Nurnberg, P., Li. C., Garcia-F-Villalta,M.J., Kets, C.M., Schmidtke, J., Cruz, V.T., Van den Akker, P.C., Boak,J., Peter, D, Compoginis, G., Cefle,K.,Ozturk,S.,Lopez,N.,Wessel,T.,Poot,M,Ippel,P.F, Groff-Kellermann, B., Hoehn, H., Martin, G.M., Kubisch, C., Oshima, J.  WRN Mutations in Werner Syndrome Pations: Genomic Rearrangements, Unusual Intronic Mutations and Ethnic-Specific Alterations.  Human Genetics. 2010;128(1):103-1
  • Saltzman, A., Mancini-Di Nardo, C., Li, C. , Chung, W., Ho, C., Hurst, S., Wynn, J. 1, Care, M., Hamilton, R.M., Seidman, G.W., Gorham, J., BA, McDonough, B., Sparks, E., Seidman,J.G. PhD, Seidman, C., Rehm, H.Cardia Myosin Binding Protein C Arg502Trp.  Cardiac Myosin Binding Protein C ARG502Trp Missense. Mutation Causes Relatively Mild Hypertrophy Cardiomyopathy….Circ Res 2010;106(9):1549-52
  • Li.C. Restrictive Dermopathy and ZMPSTE24 Mutations in Mennonites: Evidence for Allelic Herterogeneity American Journal of Medical Genetics, 2010; 152A: 262-3
  • Nagamani, S.C.S., Erez, A., Shen, J., Li, C. Roder, E., Cox, S., Karaviti, L., Pearson, M., Kang, SH, L., Sahool, T., Lalani, S. R., Stanekiewicz, P., Sutton, V.R. and Cheng S.W.  Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.  European Journal of Human Genetics2010; 18:278-84.
  • Goh, E.SY., Li, C, Horsburgh, S.m, Kolomietz, E., and Morel, CF. The SC phocomelia/Roberts Syndrome Spectrum- A Case Report of an Adult with Reivew of the Literatures, American Journal of Medical Genetics2010; 152A:472-8
  • Li, C., Homozygosity for the Common Mutation c.1085dupT in the ZMPSTE24 Gene in the Mennonite Baby with Restrictive Dermopathy and Abruptio Placenta.  American Journal of Medical Genetics2010; 152A:262-3.
  • 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.
  • Li, C. Clinical genetics provider real-time workflow study. Genetics in Medicine.  10:915, 2008
  • 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.
  • Manitoba Oculotrichoanal syndrome. Li C. Genereview. Available at http://www.genetests.org published in July 2008.
  • A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. Li C, Di Pierro E, Brancaleoni V, Cappellini MD, Steensma DP. Clin Chem Lab Med. 2009;47(1):44-6. PMID: 19055472 [PubMed - indexed for MEDLINE]
  • Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. PMID: 17352387 [PubMed - indexed for MEDLINE]
  • Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Slavotinek A, Li C, Sherr EH, Chudley AE. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. PMID: 16894541 [PubMed - indexed for MEDLINE]
  • Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome? Li C, Chodirker BN, Dawson AJ, Chudley AE. Clin Dysmorphol. 2004 Apr;13(2):95-8. PMID: 15057125 [PubMed - indexed for MEDLINE]
  • Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2.Li C, Chudley AE, Soni R, Divekar A. Pediatr Cardiol. 2003 Nov-Dec;24(6):585-7. Epub 2003 Jul 29. PMID: 12881773 [PubMed - indexed for MEDLINE]
  • Heterophilic binding of L1 on unmyelinated sensory axons mediates Schwann cell adhesion and is required for axonal survival. Haney CA, Sahenk Z, Li C, Lemmon VP, Roder J, Trapp BD. J Cell Biol. 1999 Sep 6;146(5):1173-84. PMID: 10477768 [PubMed - indexed for MEDLINE]
  • Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons. Yin X, Crawford TO, Griffin JW, Tu P, Lee VM, Li C, Roder J, Trapp BD. J Neurosci. 1998 Mar 15;18(6):1953-62. Review. PMID: 9482781 [PubMed - indexed for MEDLINE]
  • Myelin associated glycoprotein modulates glia-axon contact in vivo.Li C, Trapp B, Ludwin S, Peterson A, Roder J. J Neurosci Res. 1998 Jan 15;51(2):210-7. PMID: 9469574 [PubMed - indexed for MEDLINE]
  • Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice. Vabnick I, Messing A, Chiu SY, Levinson SR, Schachner M, Roder J, Li C, Novakovic S, Shrager P. J Neurosci Res. 1997 Oct 15;50(2):321-36. PMID: 9373041 [PubMed - indexed for MEDLINE]
  • Myelin-associated glycoprotein inhibits neurite/axon growth and causes growth cone collapse. Li M, Shibata A, Li C, Braun PE, McKerracher L, Roder J, Kater SB, David S. J Neurosci Res. 1996 Nov 15;46(4):404-14. PMID: 8950700 [PubMed - indexed for MEDLINE]
  • Myelin from MAG-deficient mice is a strong inhibitor of neurite outgrowth. Ng WP, Cartel N, Li C, Roder J, Lozano A. Neuroreport. 1996 Mar 22;7(4):861-4. PMID: 8724661 [PubMed - indexed for MEDLINE]
  • Myelination in the absence of myelin-associated glycoprotein.Li C, Tropak MB, Gerlai R, Clapoff S, Abramow-Newerly W, Trapp B, Peterson A, Roder J.Nature. 1994 Jun 30;369(6483):747-50. PMID: 7516497 [PubMed - indexed for MEDLINE]

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