Wai Man Chan

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
  2. ncbi request reprint Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
    Koki Yamada
    Department of Medicine Genetics, Enders 5, Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Nat Genet 35:318-21. 2003
  3. pmc Expansion of the CHN1 strabismus phenotype
    Noriko Miyake
    Departments of Neurology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 52:6321-8. 2011
  4. pmc An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
    Gustav Y Cederquist
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    Hum Mol Genet 21:5484-99. 2012
  5. ncbi request reprint Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
    Koki Yamada
    Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 45:2218-23. 2004
  6. pmc A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
    Sheena Chew
    Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
    Brain 136:522-35. 2013
  7. pmc Two novel CHN1 mutations in 2 families with Duane retraction syndrome
    Wai Man Chan
    Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Arch Ophthalmol 129:649-52. 2011
  8. pmc HOXA1 mutations are not a common cause of Möbius syndrome
    Jessica K Rankin
    Department of Neurology, Children s Hospital Boston, Boston, Massachusetts, USA
    J AAPOS 14:78-80. 2010
  9. pmc Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
    Raidah Al-Baradie
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
    Am J Hum Genet 71:1195-9. 2002
  10. pmc Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
    Max A Tischfield
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    Cell 140:74-87. 2010

Collaborators

Detail Information

Publications17

  1. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
    ..To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A...
  2. ncbi request reprint Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
    Koki Yamada
    Department of Medicine Genetics, Enders 5, Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
    Nat Genet 35:318-21. 2003
    ..We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis...
  3. pmc Expansion of the CHN1 strabismus phenotype
    Noriko Miyake
    Departments of Neurology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 52:6321-8. 2011
    ..This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation...
  4. pmc An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
    Gustav Y Cederquist
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    Hum Mol Genet 21:5484-99. 2012
    ..Together with previous studies, these findings highlight that β-tubulin isotypes function in both conserved and divergent ways to support proper human nervous system development...
  5. ncbi request reprint Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
    Koki Yamada
    Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Invest Ophthalmol Vis Sci 45:2218-23. 2004
    ..This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3...
  6. pmc A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
    Sheena Chew
    Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
    Brain 136:522-35. 2013
    ..The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone...
  7. pmc Two novel CHN1 mutations in 2 families with Duane retraction syndrome
    Wai Man Chan
    Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Arch Ophthalmol 129:649-52. 2011
    ..To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait...
  8. pmc HOXA1 mutations are not a common cause of Möbius syndrome
    Jessica K Rankin
    Department of Neurology, Children s Hospital Boston, Boston, Massachusetts, USA
    J AAPOS 14:78-80. 2010
    ..Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population...
  9. pmc Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
    Raidah Al-Baradie
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
    Am J Hum Genet 71:1195-9. 2002
    ..SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development...
  10. pmc Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
    Max A Tischfield
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    Cell 140:74-87. 2010
    ..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
  11. ncbi request reprint Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    Max A Tischfield
    Department of Medicine, Program in Genomics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Nat Genet 37:1035-7. 2005
    ..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system...
  12. pmc Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome
    Noriko Miyake
    Department of Medicine Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Science 321:839-43. 2008
    ..We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding...
  13. ncbi request reprint Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations
    Timothy Y Y Lai
    Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
    Invest Ophthalmol Vis Sci 48:5212-20. 2007
    ..To evaluate the genotypic and phenotypic correlations of Bietti's crystalline dystrophy (BCD) in patients with the CYP4V2 gene by mutation screening and clinical and electrophysiological assessment...
  14. ncbi request reprint Persistent diplopia after retrobulbar anesthesia
    David T L Liu
    J Cataract Refract Surg 31:864; author reply 864-5. 2005
  15. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  16. ncbi request reprint [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]
    Dan Yi Wang
    Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
    Zhonghua Yi Xue Za Zhi 85:1613-7. 2005
    ..To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP...
  17. ncbi request reprint Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
    David A Mackey
    Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    Hum Genet 110:510-2. 2002
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