PI
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Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M. R., Burda, P., Connolly, M. B., Cameron, J., Demos, M., Dewan, T., Dionne, J., & 37 others , 2016, In: New England journal of medicine. 374, 23, p. 2246-2255Research output: Contribution to journal › Article › Academic › peer-review
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, C. D. M., Bonafé, L., Wen, X-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., Breen, C., Donnai, D., Cormier, V., Heron, D., Nishimura, G., Uchikawa, S., Campos-Xavier, B., Rossi, A., Hennet, T., Brand-Arzamendi, K., & 26 others , 2016, In: Nature Genetics. 48, 7, p. 777-+Research output: Contribution to journal › Article › Academic › peer-review
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Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., Ukpeh, H., Chakrapani, A., Preece, M. A., Ball, S., Pitt, J., Vallance, H. D., Coulter-Mackie, M., Nguyen, H., & 6 others , 2014, In: American journal of human genetics. 94, 3, p. 453-461Research output: Contribution to journal › Article › Academic › peer-review
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Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child?
Global Alliance for Genomics and Health Regulatory and Ethics Workstream, 22 Nov 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101033Research output: Contribution to journal › Article › Academic › peer-review
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
Mohajeri, A., Vaseghi-Shanjani, M., Rosenfeld, J. A., Yang, G. X., Lu, H., Sharma, M., Lin, S., Salman, A., Waqas, M., Sababi Azamian, M., Worley, K. C., del Bel, K. L., Kozak, F. K., Rahmanian, R., Biggs, C. M., Hildebrand, K. J., Lalani, S. R., Nicholas, S. K., Scott, D. A., Mostafavi, S., & 280 others , 1 Nov 2023, In: Journal of medical genetics. 60, 11, p. 1092-1104 13 p., jmg-2022-109127.Research output: Contribution to journal › Article › Academic › peer-review
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Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism
Stolwijk, N. N., Bosch, A. M., Bouwhuis, N., Häberle, J., van Karnebeek, C., van Spronsen, F. J., Langeveld, M. & Hollak, C. E. M., Nov 2023, In: Journal of Inherited Metabolic Disease. 46, 6, p. 1017-1028 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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