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

por van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.
Publicado 2018

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

por Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M. I., Vaz, Frederic M., van Karnebeek, Clara D. M., Awan, Fazli Rabbi
Publicado 2019

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

por Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Publicado 2018

Personalized medicine for rare neurogenetic disorders: can we make it happen?

por van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.
Publicado 2022

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

por Elliott, Alison M., du Souich, Christèle, Adam, Shelin, Dragojlovic, Nick, van Karnebeek, Clara, Nelson, Tanya N., Lehman, Anna, Lynd, Larry D., Friedman, Jan M.
Publicado 2018

Hospital-to-home transitions for children with medical complexity: part 1, a systematic review of reported outcomes

por de Lange, Annemieke, Alsem, Mattijs W., Haspels, Heleen N., van Karnebeek, Clara D. M., van Woensel, Job B. M., Etten–Jamaludin, Faridi S., Maaskant, Jolanda M.
Publicado 2023

Molecular identification in metabolomics using infrared ion spectroscopy

por 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
Publicado 2017

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

por 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.
Publicado 2020

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

por 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.
Publicado 2021

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

por Bourne, Stephanie C., Townsend, Katelin N., Shyr, Casper, Matthews, Allison, Lear, Scott A., Attariwala, Raj, Lehman, Anna, Wasserman, Wyeth W., van Karnebeek, Clara, Sinclair, Graham, Vallance, Hilary, Gibson, William T.
Publicado 2017

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

por 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.
Publicado 2016

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

por 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
Publicado 2017

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

por 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
Publicado 2017

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado 2014

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

por 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
Publicado 2018

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

por Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi, Sara
Publicado 2020

Hospital-to-home transitions for children with medical complexity: part 2—a core outcome set

por Haspels, Heleen N., de Lange, Annemieke A., Alsem, Mattijs W., Sandbergen, Bettina, Dulfer, Karolijn, de Hoog, Matthijs, Joosten, Koen F. M., van Karnebeek, Clara D., van Woensel, Job B. M., Maaskant, Jolanda M.
Publicado 2023

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

por Lopes, Fátima, Torres, Fátima, Soares, Gabriela, van Karnebeek, Clara D., Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, Patrícia
Publicado 2019

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

por Modi, Bhavi P., Del Bel, Kate L., Lin, Susan, Sharma, Mehul, Richmond, Phillip A., van Karnebeek, Clara D. M., Chan, Edmond S., Avinashi, Vishal, Rehmus, Wingfield E., Biggs, Catherine M., Wasserman, Wyeth W., Turvey, Stuart E.
Publicado 2021

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

por Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., van Karnebeek, Clara D. M., Horvath, Gabriella A.
Publicado 2019