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Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy

• Authors : Robinson, H. K.; Zaklyazminskaya, E.; Povolotskaya, I.

Subjects: Alleles; Cardiomyopathy; Dilated/*genetics/pathology/therapy

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Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

• Authors : Simon P. Hart; Vilmundur Gudnason; Yingze Zhang ...

Subjects: Male; Pathology; Epidemiology

• Source: Allen, R J, Guillen-guio, B, Oldham, J M, Ma, S, Dressen, A, Paynton, M L, Kraven, L M, Obeidat, M, Li, X, Ng, M, Braybrooke, R, Molina-molina, M, Hobbs, B D, Putman, R K, Sakornsakolpat, P, Booth, H

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Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

• Authors : Mee Hyun Song; Tae-Jun Kwon; Hui Ram Kim

Subjects: Adolescent; Adult; Alternative Splicing

• Source: T201303519.pdf

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DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder.

• Authors : Håvik, Bjarte; Degenhardt, Franziska A; Giddaluru, Sudheer

Subjects: info:eu-repo/classification/ddc/610; Attention Deficit Disorder with Hyperactivity: genetics; Bipolar Disorder: geneticsDE

• Source: PLOS ONE 7(4), e35424 (2012). doi:10.1371/journal.pone.0035424

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Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

• Authors : W. H. Linda Kao; Nicole Probst-Hensch; Florian Ernst ...

Subjects: Candidate gene; Amino Acid Transport Systems; Basic/genetics

• Source: Human Molecular Genetics, 21(24), 5329-5343. Oxford University PressHuman Molecular GeneticsHuman Molecular

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First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

• Authors : Park, SH; Lee, JE; Sohn, YB ...

Subjects: Asian Continental Ancestry Group/genetics; Base Sequence; Family

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Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus

• Authors : Chang, YK; Li, PH; Zhang, L

Subjects: Genetic Predisposition to Disease; Lupus Erythematosus; Systemic - enzymology - genetics

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Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese

• Authors : Mok, MY; Lau, CS; Yang, W

Subjects: Middle Aged; Male; Lupus Erythematosus

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Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus

• Authors : Qiji Liu; Irene Oi-Lin Ng; Pak C. Sham

Subjects: Male; Cancer Research; Genome-wide association study

• Source: PLoS Genetics, Vol 6, Iss 2, p e1000841 (2010)PLoS Genetics

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Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis

• Authors : Economou, M.; Trikalinos, T. A.; Loizou, K. T.

Subjects: Chi-Square Distribution; Crohn Disease/*complications/*genetics/pathology; Genetic Predisposition to Disease

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