Dr Alan Ma

Clinical Associate Lecturer
Genetic Medicine, Children's Hospital, Westmead

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Selected publications

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Journals

  • O'Grady, G., Ma, A., Sival, D., Wong, M., Peduto, A., Menezes, M., Young, H., Waddell, L., Ghaoui, R., Needham, M., Lek, M., Clarke, N., et al (2016). Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics, 24(8), 1216-1219. [More Information]
  • Ma, A., Grigg, J., Ho, G., Prokudin, I., Farnsworth, E., Holman, K., Cheng, A., Billson, F., Martin, F., Fraser, C., Christodoulou, J., Flaherty, M., Bennetts, B., Jamieson, R., et al (2016). Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing. Human Mutation, 37(4), 371-384. [More Information]
  • Hsu, P., Ma, A., Barnes, E., Wilson, M., Hoefsloot, L., Rinne, T., Munns, C., Williams, G., Wong, M., Mehr, S. (2016). The Immune Phenotype of Patients with CHARGE Syndrome. The Journal of Allergy and Clinical Immunology: In Practice, 4(1), 96-103e.2. [More Information]
  • Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Loebel, D., Grigg, J., Tam, P., Becker, T., Jamieson, R., et al (2015). Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human Molecular Genetics, 24(20), 5789-5804. [More Information]
  • Hsu, P., Ma, A., Wilson, M., Williams, G., Curotta, J., Munns, C., Mehr, S. (2014). CHARGE syndrome: A review. Journal of Paediatrics and Child Health, 50(7), 504-511. [More Information]
  • Murray, J., Bicknell, L., Yigit, G., Duker, A., Van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M., Wise, C., Ades, L., Ma, A., et al (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation, 35(1), 76-85. [More Information]

2016

  • O'Grady, G., Ma, A., Sival, D., Wong, M., Peduto, A., Menezes, M., Young, H., Waddell, L., Ghaoui, R., Needham, M., Lek, M., Clarke, N., et al (2016). Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease. European Journal of Human Genetics, 24(8), 1216-1219. [More Information]
  • Ma, A., Grigg, J., Ho, G., Prokudin, I., Farnsworth, E., Holman, K., Cheng, A., Billson, F., Martin, F., Fraser, C., Christodoulou, J., Flaherty, M., Bennetts, B., Jamieson, R., et al (2016). Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing. Human Mutation, 37(4), 371-384. [More Information]
  • Hsu, P., Ma, A., Barnes, E., Wilson, M., Hoefsloot, L., Rinne, T., Munns, C., Williams, G., Wong, M., Mehr, S. (2016). The Immune Phenotype of Patients with CHARGE Syndrome. The Journal of Allergy and Clinical Immunology: In Practice, 4(1), 96-103e.2. [More Information]

2015

  • Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Loebel, D., Grigg, J., Tam, P., Becker, T., Jamieson, R., et al (2015). Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human Molecular Genetics, 24(20), 5789-5804. [More Information]

2014

  • Hsu, P., Ma, A., Wilson, M., Williams, G., Curotta, J., Munns, C., Mehr, S. (2014). CHARGE syndrome: A review. Journal of Paediatrics and Child Health, 50(7), 504-511. [More Information]
  • Murray, J., Bicknell, L., Yigit, G., Duker, A., Van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M., Wise, C., Ades, L., Ma, A., et al (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation, 35(1), 76-85. [More Information]

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