Monogenic traits are not simple: lessons from phenylketonuria von Scriver, Charles R., Waters, Paula J.

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Human genetics: lessons from Quebec populations von Scriver, C R

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Correction of Kinetic and Stability Defects by Tetrahydrobiopterin in Phenylketonuria Patients with Certain Phenylalanine Hydroxylase Mutations von Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C., Beutler, Ernest

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After the genome—the phenome? von Scriver, C. R.

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Translating knowledge into practice in the post-genome era von SCRIVER, C. R

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Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics von Scriver, Charles R.

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PAHdb 2003: What a locus-specific knowledgebase can do von Scriver, Charles R., Hurtubise, Mélanie, Konecki, David, Phommarinh, Manyphong, Prevost, Lynne, Erlandsen, Heidi, Stevens, Ray, Waters, Paula J., Ryan, Shannon, McDonald, David, Sarkissian, Christineh

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Proof of "disease causing" mutation von Cotton, RGH, Scriver, CR

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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations von Kayaalp, Emre, Treacy, Eileen, Waters, Paula J., Byck, Susan, Nowacki, Piotr, Scriver, Charles R.

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A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase von Sarkissian, Christineh N., Shao, Zhongqi, Blain, Francoise, Peevers, Rosalie, Su, Hongsheng, Heft, Robert, Thomas M. S. Chang, Scriver, Charles R.

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The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients von Fukao, Toshiyuki, Scriver, Charles R., Kondo, Naomi

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Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria von Wang, Lin, Gamez, Alejandra, Sarkissian, Christineh N., Straub, Mary, Patch, Marianne G., Han, Gye Won, Striepeke, Steve, Fitzpatrick, Paul, Scriver, Charles R., Stevens, Raymond C.

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Translating knowledge into practice in the "post-genome" era von Scriver, CR

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Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria von Gámez, Alejandra, Sarkissian, Christineh N, Wang, Lin, Kim, Woomi, Straub, Mary, Patch, Marianne G, Chen, Lin, Striepeke, Steve, Fitzpatrick, Paul, Lemontt, Jeffrey F, O'Neill, Charles, Scriver, Charles R, Stevens, Raymond C

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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools von MITCHELL, J. J, CAPUA, A, CLOW, C, SCRIVER, C. R

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A rapid procedure for extracting genomic DNA from leukocytes von JOHN, S. W. M, WEITZNER, G, ROZEN, R, SCRIVER, C. R

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The human genome project will not replace the physician von Scriver, Charles R

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PAHdb: A locus-specific knowledgebase von Scriver, Charles R., Waters, Paula J., Sarkissian, Christineh, Ryan, Shannon, Prevost, Lynne, Côté, David, Novak, Jaroslav, Teebi, Saeed, Nowacki, Piotr M.

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New approaches to treat PKU: How far are we? von Blau, Nenad, Scriver, Charles R.

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The last day of the past is the first day of the future: Transitional care for genetic patients von Scriver, Charles R., Lee, Philip J.

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