Treatment experience in two adults with creatinfe transporter deficiency

by Schjelderup, Jack, Hope, Sigrun, Vatshelle, Christian, van Karnebeek, Clara D.M.
Published in Mol Genet Metab Rep (2021)

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

by Shyr, Casper, Kushniruk, Andre, van Karnebeek, Clara D.M., Wasserman, Wyeth W.
Published in J Am Med Inform Assoc (2016)

A proposed nosology of inborn errors of metabolism

by Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad
Published in Genet Med (2018)

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

by Lee, Jessica J Y, van Karnebeek, Clara D M, Wasserman, Wyeth W
Published in J Am Med Inform Assoc (2018)

Ethics Rounds: Please test my child for a cancer gene. But don’t tell her

by Bester, Johan C., Sabatello, Maya, van Karnebeek, Clara D.M., Lantos, John D.
Published in Pediatrics (2018)

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

by van Karnebeek, Clara D M, Houben, Roderick F A, Lafek, Mirafe, Giannasi, Wynona, Stockler, Sylvia
Published 2012

NAD(+) homeostasis in human health and disease

by Zapata‐Pérez, Rubén, Wanders, Ronald J A, van Karnebeek, Clara D M, Houtkooper, Riekelt H
Published in EMBO Mol Med (2021)

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

by Tarailo-Graovac, Maja, Zhu, Jing Yun Alice, Matthews, Allison, van Karnebeek, Clara D M, Wasserman, Wyeth W
Published in Genet Med (2017)

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

by Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad
Published in Genet Med (2018)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

by Witters, Peter, Andersson, Hans, Jaeken, Jaak, Tseng, Laura, van Karnebeek, Clara D. M., Lefeber, Dirk J., Cassiman, David, Morava, Eva
Published in Orphanet J Rare Dis (2021)

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

by van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.
Published in Front Neurol (2018)

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

by Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M. I., Vaz, Frederic M., van Karnebeek, Clara D. M., Awan, Fazli Rabbi
Published in Front Neurol (2019)

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

by Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Published in J Inherit Metab Dis (2018)

Molecular identification in metabolomics using infrared ion spectroscopy

by Martens, Jonathan, Berden, Giel, van Outersterp, Rianne E., Kluijtmans, Leo A. J., Engelke, Udo F., van Karnebeek, Clara D. M., Wevers, Ron A., Oomens, Jos
Published in Sci Rep (2017)

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

by Warmerdam, Hilde A. G., Termeulen-Ferreira, Elise A., Tseng, Laura A., Lee, Jessica Y., van Eeghen, Agnies M., Ferreira, Carlos R., van Karnebeek, Clara D. M.
Published in Front Neurol (2020)

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

by Hoytema van Konijnenburg, Eva M. M., Wortmann, Saskia B., Koelewijn, Marina J., Tseng, Laura A., Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R., van Karnebeek, Clara D. M.
Published in Orphanet J Rare Dis (2021)

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

by Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.
Published in Child Neurol Open (2016)

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

by Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria
Published in Orphanet J Rare Dis (2017)

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

by Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Published in Genet Med (2017)

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

by Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M., Mostafavi, Sara
Published in J Inherit Metab Dis (2018)