van Karnebeek CDM - Search Results

1

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

Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Chinsky JM, et al. Among authors: van karnebeek cdm. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Genet Med. 2017. PMID: 28771246 Free PMC article. Review.

2

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. Among authors: van karnebeek cdm. 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.

3

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

Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N. Lee JJY, et al. Among authors: van karnebeek cdm. Genet Med. 2018 Jan;20(1):151-158. doi: 10.1038/gim.2017.108. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726811 Free PMC article.

4

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. Ferreira CR, et al. Among authors: van karnebeek cdm. Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8. Genet Med. 2019. PMID: 29884839 Free PMC article.

5

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

Dragojlovic N, van Karnebeek CDM, Ghani A, Genereaux D, Kim E, Birch P; CAUSES Study; Elliott AM, Friedman JM, Lynd LD. Dragojlovic N, et al. Among authors: van karnebeek cdm. Genet Med. 2020 Feb;22(2):292-300. doi: 10.1038/s41436-019-0635-6. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462755 Free article.

6

The role of clinical response to treatment in determining pathogenicity of genomic variants.

Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Among authors: van karnebeek cdm, van der lee r. Genet Med. 2021 Mar;23(3):581-585. doi: 10.1038/s41436-020-00996-9. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087887 Free article.

7

Further delineation of the chromosome 14q terminal deletion syndrome.

van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. van Karnebeek CD, et al. Am J Med Genet. 2002 Jun 1;110(1):65-72. doi: 10.1002/ajmg.10207. Am J Med Genet. 2002. PMID: 12116274 Review.

8

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

van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. van Karnebeek CD, et al. J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546. J Med Genet. 2002. PMID: 12161591 Free PMC article.

9

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J. Diez-Fernandez C, et al. Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913920 Free article.

10

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

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