Publications

Human genetic variation and the gut microbiome in disease.

Hall AB, Tolonen AC, Xavier RJ. Human genetic variation and the gut microbiome in disease. Nat Rev Genet. 2017;18(11):690-699. doi:10.1038/nrg.2017.63

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Van den Bergh PYK, Sznajer Y, Van Parys V, et al. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord. 2017;27(11):1043-1046. doi:10.1016/j.nmd.2017.07.006

The genetic underpinnings of body fat distribution.

Pulit SL, Laber S, Glastonbury CA, Lindgren CM. The genetic underpinnings of body fat distribution. Expert Rev Endocrinol Metab. 2017;12(6):417-427. doi:10.1080/17446651.2017.1390427

Molecular basis for increased susceptibility of Indigenous North Americans to seropositive rheumatoid arthritis.

Scally SW, Law SC, Ting YT, et al. Molecular basis for increased susceptibility of Indigenous North Americans to seropositive rheumatoid arthritis. Ann Rheum Dis. 2017;76(11):1915-1923. doi:10.1136/annrheumdis-2017-211300

Trauma and traumatic stress in a sample of pregnant women.

Gelaye B, Zhong QY, Basu A, et al. Trauma and traumatic stress in a sample of pregnant women. Psychiatry Res. 2017;257:506-513. doi:10.1016/j.psychres.2017.08.016

Bone Strength Estimated by Micro-Finite Element Analysis (µFEA) Is Heritable and Shares Genetic Predisposition With Areal BMD: The Framingham Study.

Karasik D, Demissie S, Lu D, et al. Bone Strength Estimated by Micro-Finite Element Analysis (µFEA) Is Heritable and Shares Genetic Predisposition With Areal BMD: The Framingham Study. J Bone Miner Res. 2017;32(11):2151-2156. doi:10.1002/jbmr.3200

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, et al. The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat. 2017;38(11):1534-1541. doi:10.1002/humu.23295

A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes.

Mercader JM, Liao RG, Bell AD, et al. A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes. Diabetes. 2017;66(11):2903-2914. doi:10.2337/db17-0187

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Yates M, Vasudevan PC, Chandler KE, et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A. 2017;173(11):3003-3012. doi:10.1002/ajmg.a.38492

SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters.

Nakayama RT, Pulice JL, Valencia AM, et al. SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters. Nat Genet. 2017;49(11):1613-1623. doi:10.1038/ng.3958

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Publications

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