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Clinical Sequencing Papers of Note: Jun 15, 2011

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Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.
Al-Romaih KI, Genovese G, Al-Mojalli H, et al.
Am J Kidney Dis. 2011 Jun 7. [Epub ahead of print]


RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
Qi XP, Ma JM, Du ZF, et al.
PLoS One. 2011;6(5):e20353.


Association between IL-32 genotypes and outcome in infection-associated acute lung injury.
Arcaroli JJ, Liu N, Yi N, Abraham E.
Crit Care. 2011 Jun 7;15(3):R138.


Improving genetic testing for Gitelman's syndrome.
Hollenberg NK.
Curr Hypertens Rep. 2011 Jun 7. [Epub ahead of print]


Resequencing DCDC5 in the flanking region of an LD-SNP derived from a kidney-yang deficiency syndrome family.
Zhou LP, Liu WW, Zhang TE, et al.
Evid Based Complement Alternat Med. 2011;2011:215653.


A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
Ding X, Wang B, Luo Y, et al.
Mol Vis. 2011;17:1343-9.


Towards the human colorectal cancer microbiome.
Marchesi JR, Dutilh BE, Hall N, et al.
PLoS One. 2011;6(5):e20447.


IDH1 and IDH2 mutations in pediatric acute leukemia.
Andersson AK, Miller DW, Lynch JA, et al.
Leukemia. 2011 Jun 7. [Epub ahead of print]


Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia.
Kotzka J, Knebel B, Janssen OE, et al.
Atherosclerosis. 2011 May 18. [Epub ahead of print]


Exome sequencing of two patients in a family with atypical X-linked leukodystrophy.
Tsurusaki Y, Okamoto N, Suzuki Y, et al.
Clin Genet. 2011 Jun 3. [Epub ahead of print]

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