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1

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

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.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

2

Gizmo

Yu, Hui, van Karnebeek, Clara, Sinclair, Graham, Hill, Alan, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

Journal:

Year:

2006

Language:

english

File:

PDF, 422 KB

english, 2006

3

Current Treatment and Management of Pyridoxine-Dependent Epilepsy

van Karnebeek, Clara D. M., Jaggumantri, Sravan

Journal:

Current Treatment Options in Neurology

Year:

2015

Language:

english

File:

PDF, 925 KB

english, 2015

4

An aetiological study of 25 mentally retarded adults with autism

van Karnebeek, C D M

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 808 KB

english, 2002

5

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

6

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

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,

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.77 MB

2020

7

A novel recurrent mutation inATP1A3causes CAPOS syndrome

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 420 KB

english, 2014

8

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Sirrs, Sandra, van Karnebeek, Clara DM, Peng, Xiaoxue, Shyr, Casper, Tarailo-Graovac, Maja, Mandal, Rupasri, Testa, Daniel, Dubin, Devin, Carbonetti, Gregory, Glynn, Steven E, Sayson, Bryan, Robinson,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

9

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1002 KB

english, 2017

10

Please Test My Child for a Cancer Gene, but Don’t Tell Her

Bester, Johan, Sabatello, Maya, van Karnebeek, Clara D.M., Lantos, John D.

Journal:

Year:

2018

Language:

english

File:

PDF, 654 KB

english, 2018

11

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Leach, Emma L, Shevell, Michael, Bowden, Kristin, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

12

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 178 KB

english, 2014

13

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wever

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 898 KB

english, 2018

14

Movement Disorders in Treatable Inborn Errors of Metabolism

Ebrahimi-Fakhari, Darius, Van Karnebeek, Clara, Münchau, Alexander

Journal:

Movement Disorders

Year:

2018

Language:

english

File:

PDF, 251 KB

english, 2018

15

Further delineation of the chromosome 14q terminal deletion syndrome

Clara D.M. van Karnebeek, Safira Quik, Sigrid Sluijter, Miriam M.F. Hulsbeek, Jan M.N. Hoovers, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

16

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

17

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

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,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 392 KB

english, 2017

18

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Dragojlovic, Nick, Elliott, Alison M, Adam, Shelin, van Karnebeek, Clara, Lehman, Anna, Mwenifumbo, Jill C, Nelson, Tanya N, du Souich, Christèle, Friedman, Jan M, Lynd, Larry D

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 331 KB

english, 2018

19

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

20

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

Jaggumantri, Sravan, Dunbar, Mary, Edgar, Vanessa, Mignone, Cristina, Newlove, Theresa, Elango, Rajavel, Collet, Jean Paul, Sargent, Michael, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

21

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Horvath, Gabriella A., Tarailo-Graovac, Maja, Bartel, Tanja, Race, Simone, Van Allen, Margot I., Blydt-Hansen, Ingrid, Ross, Colin J., Wasserman, Wyeth W., Connolly, Mary B., van Karnebeek, Clara D. M

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 670 KB

english, 2018

22

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

van Karnebeek, Clara D.M., Dunbar, Mary, Egri, Csilla, Sayson, Bryan, Milea, Janetta, Stockler-Ipsiroglu, Sylvia, Huh, Linda, Connolly, Mary B., Horvath, Gabriella A.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 230 KB

2018

23

[JIMD Reports] || Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

van Karnebeek, Clara

Year:

2014

Language:

english

File:

PDF, 186 KB

english, 2014

24

Metabolic Diet App Suite for inborn errors of amino acid metabolism

Ho, Gloria, Ueda, Keiko, Houben, Roderick F.A., Joa, Jeff, Giezen, Alette, Cheng, Barbara, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 598 KB

english, 2016

25

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 2.28 MB

english, 2016

26

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Tarailo-Graovac, Maja, Wasserman, Wyeth W., Van Karnebeek, Clara D. M.

Journal:

Expert Review of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 586 KB

english, 2017

27

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

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

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

28

Impaired dendritic cell proinflammatory cytokine production in psoriatic arthritis

Mark H. Wenink, Kim C. M. Santegoets, John Butcher, Lenny van Bon, Femke G. M. Lamers-Karnebeek, Wim B. van den Berg, Piet L. C. M. van Riel, Iain B. McInnes, Timothy R. D. J. Radstake

Journal:

Arthritis & Rheumatism

Year:

2011

Language:

english

File:

PDF, 314 KB

english, 2011

29

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Dunbar, Mary, Jaggumantri, Sravan, Sargent, Michael, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

30

A proposed nosology of inborn errors of metabolism

Ferreira, Carlos R., van Karnebeek, Clara D. M., Vockley, Jerry, Blau, Nenad

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 229 KB

english, 2018

31

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Dragojlovic, Nick, van Karnebeek, Clara D. M., Ghani, Aisha, Genereaux, Dallas, Kim, Ellen, Birch, Patricia, Elliott, Alison M., Friedman, Jan M., Lynd, Larry D.

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 383 KB

english, 2019

32

Personalized Evaluation Model for making informed decisions in treatments for individuals with intellectual disability

Jaggumantri, Sravan, McKellin, William, Stockler, Sylvia, van Karnebeek, Clara, Collet, Jean Paul

Journal:

International Journal of Developmental Neuroscience

Year:

2015

Language:

english

File:

PDF, 60 KB

english, 2015

33

Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum

van Karnebeek, Clara D.M., Tiebout, Sylvia A., Niermeijer, Jikkemien, Poll-The, Bwee Tien, Ghani, Aisha, Coughlin, Curtis R., Van Hove, Johan L.K., Richter, Jost Wigand, Christen, Hans Juergen, Gallag

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 877 KB

english, 2016

34

P4 medicine for epilepsy and intellectual disability: nutritional therapy for inherited metabolic disease

Tseng, Laura A., Sowerbutt, Claire, Lee, Jessica J.Y., van Karnebeek, Clara D.M.

Journal:

Emerging Topics in Life Sciences

Year:

2019

Language:

english

File:

PDF, 1.22 MB

english, 2019

35

2015 update on triple therapy for pyridoxine-dependent epilepsy

Jaggumantri, S, Coughlin, C, Stockler, S, Barb, C, Mary, C, van Hove, J, van Karnebeek, C

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

36

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

Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 365 KB

english, 2017

37

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

Matthews, A.M., Tarailo-Graovac, M., Price, E.M., Blydt-Hansen, I., Ghani, A., Drögemöller, B.I., Robinson, W.P., Ross, C.J., Wasserman, W.W., Siden, H., van Karnebeek, C.D.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

38

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

Yu, Hui, van Karnebeek, Clara, Sinclair, Graham, Hill, Alan, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 661 KB

english, 2013

39

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Janer, Alexandre, van Karnebeek, Clara DM, Sasarman, Florin, Antonicka, Hana, Al Ghamdi, Malak, Shyr, Casper, Dunbar, Mary, Stockler-Ispiroglu, Sylvia, Ross, Colin J, Vallance, Hilary, Dionne, Janis,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.66 MB

english, 2015

40

Molecular identification in metabolomics using infrared ion spectroscopy

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

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.69 MB

english, 2017

41

Phenotypic abnormalities: Terminology and classification

Johannes H.M. Merks, Clara D.M. van Karnebeek, Hubert N. Caron, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

42

Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Sylvia Stockler, Barbara Plecko, Sidney M. Gospe Jr., Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein,

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

43

Surface swarms of swimming crab megalopae at Curaçao (Decapoda, Brachyura)

Yu, Hui, van Karnebeek, Clara, Sinclair, Graham, Hill, Alan, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Year:

1982

Language:

english

File:

PDF, 84 KB

english, 1982

44

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease || Disorders of Pyridoxine Metabolism

van Karnebeek, Clara

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

45

FLNA genomic rearrangements cause periventricular nodular heterotopia

Clapham, K. R., Yu, T. W., Ganesh, V. S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M. M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C. A.

Journal:

Year:

2012

Language:

english

File:

PDF, 999 KB

english, 2012

46

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

47

Pyridoxine-dependent epilepsy (PDE): Diagnostic and therapeutic queries

Lunsing, R.J., van Spronsen, F.J., Bok, L.A., Struys, E.A., van Karnebeek, C.D.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

48

MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

van Karnebeek, Clara DM, Al-Hertani, W, Jaggumantri, S, Coughlin, C, Stockler, S, Hartmann, H Hans, Van Hove, J

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

49

AB1253 Ultrasonographic signals have additive value for gout in patients presenting with mono-/oligoarthritis:

Lamers-Karnebeek, F.B., van Lieshout, A.W., van Riel, P.L., Jansen, T.L.

Journal:

Annals of the Rheumatic Diseases

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

50

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 318 KB

english, 2019

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