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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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

Associations between chromosomal anomalies and congenital heart defects: A database search

van Karnebeek, Clara D.M., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 100 KB

english, 1999

21

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

22

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

23

Impaired dendritic cell proinflammatory cytokine production in psoriatic arthritis

Mark H Wenink, Kim CM Santegoets, John Butcher, Lenny van Bon, Femke GM Lamers-Karnebeek, Wim B van den Berg, Piet LCM van Riel, Iain B McInnes, Timothy RDJ Radstake

Journal:

Journal of Translational Medicine

Year:

2011

Language:

english

File:

PDF, 74 KB

english, 2011

24

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation

CLARA D M VAN KARNEBEEK, PAULA J WATERS, MICHAEL A SARGENT, MICHELLE M MEZEY, LEE-JUN WONG, JING WANG, SYLVIA STÖCKLER-IPSIROGLU

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

25

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness

van Karnebeek, Clara D M, Jansweijer, Maaike C E, Leenders, Arnold G E, Offringa, Martin, Hennekam, Raoul C M

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 209 KB

english, 2004

26

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

27

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Clara D.M. van Karnebeek, Sylvia Stockler

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

28

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

Clara D.M. van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin II, Anibh M. Das, Sidney M. Gospe Jr., Cornelis Jakobs, Johanna H. van der Le

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

29

Clinical and echocardiographic predictors of adverse cardiovascular outcome in childhood marfan syndrome

C.D.M. van Karnebeek, K. Gauvreau, S.D. Colan, R.V. Lacro

Journal:

Journal of the American College of Cardiology

Year:

1998

Language:

english

File:

PDF, 245 KB

english, 1998

30

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

van Karnebeek, Clara D.M., Shevell, Michael, Zschocke, Johannes, Moeschler, John B., Stockler, Sylvia

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 590 KB

english, 2014

31

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virgini

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

32

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

33

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

34

The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis

Alexander, George, van Karnebeek, Clara, Stöckler-Ipsiroglu, Sylvia, Paschke, Eduard

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 83 KB

english, 2013

35

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Coulter-Mackie, Marion B., Tiebout, Sylvia, van Karnebeek, Clara, Stockler, Sylvia

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 353 KB

english, 2014

36

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, A

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

37

Treatable inborn errors of metabolism causing neurological symptoms in adults

Sirrs, S.M., Lehman, A., Stockler, S., van Karnebeek, C.D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

38

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

39

Etiology of Mental Retardation in Children Referred to a Tertiary Care Center: A Prospective Study

van Karnebeek, Clara D. M., Scheper, Frederike Y., Abeling, Nico G., Alders, Marielle, Barth, Peter G., Hoovers, Jan M. N., Koevoets, Cindy, Wanders, Ronald J. A., Hennekam, Raoul C. M.

Journal:

American Journal on Intellectual and Developmental Disabilities

Year:

2005

Language:

english

File:

PDF, 386 KB

english, 2005

40

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

Sinclair, Graham, van Karnebeek, Clara, Salvarinova, Ramona, Ho, Gloria, Ueda, Keiko, Cheng, Barbara, Giezen, Alette, Stockler, Sylvia, Vallance, Hilary

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

41

Optimizing the expediency of TNFi in rheumatoid arthritis: offering a TNFi holiday in patients having reached low-disease activity in the maintenance phase

van Ingen, Iris LA, Lamers-Karnebeek, Femke, Jansen, Tim L

Journal:

Expert Opinion on Biological Therapy

Year:

2014

Language:

english

File:

PDF, 199 KB

english, 2014

42

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

43

Expansion of theQARSdeficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Salvarinova, Ramona, Ye, Cynthia X., Rossi, Andrea, Biancheri, Roberta, Roland, Elke H., Pavlidis, Paul, Ross, Colin J., Tarailo-Graovac, Maja, Wasserman, Wyeth W., van Karnebeek, Clara D. M.

Journal:

Year:

2015

Language:

english

File:

PDF, 2.40 MB

english, 2015

44

FLAGS, frequently mutated genes in public exomes

Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica, van Karnebeek, Clara, Wasserman, Wyeth W

Journal:

BMC Medical Genomics

Year:

2014

Language:

english

File:

PDF, 1.48 MB

english, 2014

45

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Sayson, Bryan, Popurs, Marioara Angela Moisa, Lafek, Mirafe, Berkow, Ruth, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

46

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann–Pick Type C disease among intellectually disabled using discrete event simulation

van Karnebeek, Clara D.M., Mohammadi, Tima, Tsao, Nicole, Sinclair, Graham, Sirrs, Sandra, Stockler, Sylvia, Marra, Carlo

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 701 KB

english, 2015

47

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

Coughlin, Curtis R., van Karnebeek, Clara D.M., Al-Hertani, Walla, Shuen, Andrew Y., Jaggumantri, Sravan, Jack, Rhona M., Gaughan, Sommer, Burns, Casey, Mirsky, David M., Gallagher, Renata C., Van Hov

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

48

Natural history of cardiovascular manifestations in Marfan syndrome

van Karnebeek, C D M

Journal:

Archives of Disease in Childhood

Year:

2001

Language:

english

File:

PDF, 220 KB

english, 2001

49

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

50

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

van Karnebeek, C D M

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 288 KB

english, 2002