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Publications

Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH).

Srinivasan S, Kaur V, Chamarthi B, et al. Genetic Variation Augments Incretin Resistance and Influences Response to a Sulfonylurea and Metformin: The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH). Diabetes Care. 2018;41(3):554-561. doi:10.2337/dc17-1386

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

Zepeda-Mendoza CJ, Bardon A, Kammin T, et al. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018;26(3):374-381. doi:10.1038/s41431-017-0068-0

Impact of broad regulatory regions on Gdf5 expression and function in knee development and susceptibility to osteoarthritis.

Pregizer SK, Kiapour AM, Young M, et al. Impact of broad regulatory regions on Gdf5 expression and function in knee development and susceptibility to osteoarthritis. Ann Rheum Dis. 2018;77(3):450. doi:10.1136/annrheumdis-2017-212475

Dynamics of metatranscription in the inflammatory bowel disease gut microbiome.

Schirmer M, Franzosa EA, Lloyd-Price J, et al. Dynamics of metatranscription in the inflammatory bowel disease gut microbiome. Nat Microbiol. 2018;3(3):337-346. doi:10.1038/s41564-017-0089-z

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.

Yuskaitis CJ, Jones BM, Wolfson RL, et al. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018;111:91-101. doi:10.1016/j.nbd.2017.12.010

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018;39(3):383-388. doi:10.1002/humu.23385

Towards personalized, tumour-specific, therapeutic vaccines for cancer.

Hu Z, Ott PA, Wu CJ. Towards personalized, tumour-specific, therapeutic vaccines for cancer. Nat Rev Immunol. 2018;18(3):168-182. doi:10.1038/nri.2017.131

Signature Celebration of Gastroenterology, Colorectal Cancer.

Chan AT, Moayyedi P. Signature Celebration of Gastroenterology, Colorectal Cancer. Gastroenterology. 2018;154(4):767-770. doi:10.1053/j.gastro.2017.11.029

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.

Alonso N, Estrada K, Albagha OME, et al. Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. Ann Rheum Dis. 2018;77(3):378-385. doi:10.1136/annrheumdis-2017-212469

Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children.

Kantor DB, Phipatanakul W, Hirschhorn JN. Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children. Am J Respir Crit Care Med. 2018;197(5):545-547. doi:10.1164/rccm.201711-2166ED