van Karnebeek CD - Search Results

1

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: van karnebeek cd. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.

2

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. Among authors: van karnebeek cd. Neurogenetics. 2014 Aug;15(3):157-9. doi: 10.1007/s10048-014-0411-3. Epub 2014 Jun 24. Neurogenetics. 2014. PMID: 24958424

3

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. Among authors: van karnebeek cd. Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30. Neurogenetics. 2015. PMID: 25432320

4

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. Among authors: van karnebeek cd, van den ouweland am. 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.

5

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. Among authors: van karnebeek cd. 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

6

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM. Vieira P, et al. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. Mol Genet Metab. 2017. PMID: 28216384

7

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. Among authors: van karnebeek cd. 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.

8

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM. Coe RR, et al. Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13. Eur J Med Genet. 2017. PMID: 28414188

9

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

Tarailo-Graovac M, Zhu JYA, Matthews A, van Karnebeek CDM, Wasserman WW. Tarailo-Graovac M, et al. Genet Med. 2017 Dec;19(12):1300-1308. doi: 10.1038/gim.2017.50. Epub 2017 May 4. Genet Med. 2017. PMID: 28471432 Free PMC article.

10

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

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK. Lee JJY, et al. Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503617 Free PMC article.

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