Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12 von Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.

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76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs von Fortin, Fléchère, Anastasio, Natascia, Chenier, Sebastien

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Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence von Loewy, Amanda D., Niles, Kirsten M., Anastasio, Natascia, Watkins, David, Lavoie, Josée, Lerner-Ellis, Jordan P., Pastinen, Tomi, Trasler, Jacquetta M., Rosenblatt, David S.

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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis von Sentell, Zachary T, Nurcombe, Zachary W, Mougharbel, Lina, Anastasio, Natascia, Rivière, Jean-Baptiste, Babayeva, Sima, Goodyer, Paul R, Torban, Elena, Kitzler, Thomas M

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Rare Variants in Syndromic Ciliopathy Genes as Novel Causes of Isolated Renal Disease in Adults: PO1270 von Sentell, Zachary T., Mougharbel, Lina, Babayeva, Sima, Anastasio, Natascia, Chu, Lee lee, Akpa, Murielle M., Goodyer, Paul R., Torban, Elena, Kitzler, Thomas M.

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Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis von El Helou, Janine, Perry, Tracy B., Anastasio, Natascia, Holbrook, Karen A., Rosenblatt, David S.

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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations von Lerner-Ellis, Jordan P, Anastasio, Natascia, Liu, Junhui, Coelho, David, Suormala, Terttu, Stucki, Martin, Loewy, Amanda D, Gurd, Scott, Grundberg, Elin, Morel, Chantal F, Watkins, David, Baumgartner, Matthias R, Pastinen, Tomi, Rosenblatt, David S, Fowler, Brian

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Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype von Alfares, Ahmed, Nunez, Laura Dempsey, Al-Thihli, Khalid, Mitchell, John, Melançon, Serge, Anastasio, Natascia, Ha, Kevin C H, Majewski, Jacek, Rosenblatt, David S, Braverman, Nancy

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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome von Anastasio, Natascia, Ben-Omran, Tawfeg, Teebi, Ahmad, Ha, Kevin C.H., Lalonde, Emilie, Ali, Rehab, Almureikhi, Mariam, Der Kaloustian, Vazken M., Liu, Junhui, Rosenblatt, David S., Majewski, Jacek, Jerome-Majewska, Loydie A.

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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B von Quadros, Edward V, Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M, Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W, Fedosov, Sergey, Wright, Erica, Gallagher, Renata C, Anastasio, Natascia, Watkins, David, Rosenblatt, David S

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Spectrum of mutations in MMACHC , allelic expression, and evidence for genotype–phenotype correlations von Lerner-Ellis, Jordan P., Anastasio, Natascia, Liu, Junhui, Coelho, David, Suormala, Terttu, Stucki, Martin, Loewy, Amanda D., Gurd, Scott, Grundberg, Elin, Morel, Chantal F., Watkins, David, Baumgartner, Matthias R., Pastinen, Tomi, Rosenblatt, David S., Fowler, Brian

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Epigenetic modification of the gene for the vitamin B sub(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence von Loewy, Amanda D, Niles, Kirsten M, Anastasio, Natascia, Watkins, David, Lavoie, Josee, Lerner-Ellis, Jordan P, Pastinen, Tomi, Trasler, Jacquetta M, Rosenblatt, David S

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Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes von Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drogemoller, Britt, Ross, Colin J.D., Wasserman, Wyeth W., van Karnebeek, Clara, Buhas, Daniela

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Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence von Loewy, Amanda D, Niles, Kirsten M, Anastasio, Natascia, Watkins, David, Lavoie, Josée, Lerner-Ellis, Jordan P, Pastinen, Tomi, Trasler, Jacquetta M, Rosenblatt, David S

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