van Karnebeek CDM - Search Results

1

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

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. van Karnebeek CDM, et al. Among authors: van de kamp jm. J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23. J Inherit Metab Dis. 2018. PMID: 29362952 Free PMC article.

2

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, Koevoets C, Wanders RJ, Hennekam RC. van Karnebeek CD, et al. Am J Ment Retard. 2005 Jul;110(4):253-67. doi: 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2. Am J Ment Retard. 2005. PMID: 15941363

3

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD. Armstrong L, et al. Neurogenetics. 2014 Aug;15(3):157-9. doi: 10.1007/s10048-014-0411-3. Epub 2014 Jun 24. Neurogenetics. 2014. PMID: 24958424

4

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD. Salvarinova R, et al. Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30. Neurogenetics. 2015. PMID: 25432320

5

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Stray-Pedersen A, et al. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708751 Free PMC article.

6

Episodic ataxia associated with a de novo SCN2A mutation.

Leach EL, van Karnebeek CD, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT. Leach EL, et al. Eur J Paediatr Neurol. 2016 Sep;20(5):772-6. doi: 10.1016/j.ejpn.2016.05.020. Epub 2016 Jun 14. Eur J Paediatr Neurol. 2016. PMID: 27328862

7

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J. Balasubramaniam S, et al. JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. JIMD Rep. 2017. PMID: 27450367 Free PMC article.

8

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

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M. Tarailo-Graovac M, et al. Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6. Orphanet J Rare Dis. 2017. PMID: 28187749 Free PMC article.

9

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD. Armstrong L, et al. Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621. Am J Med Genet A. 2017. PMID: 28211985

10

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

Tarailo-Graovac M, Wasserman WW, Van Karnebeek CD. Tarailo-Graovac M, et al. Expert Rev Mol Diagn. 2017 Apr;17(4):307-309. doi: 10.1080/14737159.2017.1293527. Epub 2017 Feb 20. Expert Rev Mol Diagn. 2017. PMID: 28277145 No abstract available.

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