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Items: 4

1.

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177. doi: 10.1126/scitranslmed.aat6177.

PMID:
31019026
2.

The role of calculated non-caeruloplasmin-bound copper in Wilson's disease.

Duncan A, Yacoubian C, Beetham R, Catchpole A, Bullock D.

Ann Clin Biochem. 2017 Nov;54(6):649-654. doi: 10.1177/0004563216676843. Epub 2016 Oct 13.

PMID:
27742851
3.

The risk of copper deficiency in patients prescribed zinc supplements.

Duncan A, Yacoubian C, Watson N, Morrison I.

J Clin Pathol. 2015 Sep;68(9):723-5. doi: 10.1136/jclinpath-2014-202837. Epub 2015 Jun 17.

PMID:
26085547
4.

MRI-based abnormalities in young adults at risk of adverse bone health due to childhood-onset metabolic & endocrine conditions.

McComb C, Harpur A, Yacoubian C, Leddy C, Anderson G, Shepherd S, Perry C, Shaikh MG, Foster J, Ahmed SF.

Clin Endocrinol (Oxf). 2014 Jun;80(6):811-7. doi: 10.1111/cen.12367. Epub 2013 Dec 12.

PMID:
24245820

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