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Publications

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016;99(4):831-845. doi:10.1016/j.ajhg.2016.08.007

Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees.

Sul JH, Cade BE, Cho MH, et al. Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees. Am J Hum Genet. 2016;99(4):846-859. doi:10.1016/j.ajhg.2016.08.015

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.

Auer PL, Reiner AP, Wang G, et al. Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. Am J Hum Genet. 2016;99(4):791-801. doi:10.1016/j.ajhg.2016.08.012

Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.

Barrow JJ, Balsa E, Verdeguer F, et al. Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations. Mol Cell. 2016;64(1):163-175. doi:10.1016/j.molcel.2016.08.023

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Doan RN, Bae BI, Cubelos B, et al. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016;167(2):341-354.e12. doi:10.1016/j.cell.2016.08.071

Probing the Azaaurone Scaffold against the Hepatic and Erythrocytic Stages of Malaria Parasites.

Carrasco MP, Machado M, Gonçalves L, et al. Probing the Azaaurone Scaffold against the Hepatic and Erythrocytic Stages of Malaria Parasites. ChemMedChem. 2016;11(19):2194-2204. doi:10.1002/cmdc.201600327

Allergic asthma is distinguished by sensitivity of allergen-specific CD4+ T cells and airway structural cells to type 2 inflammation.

Cho JL, Ling MF, Adams DC, et al. Allergic asthma is distinguished by sensitivity of allergen-specific CD4+ T cells and airway structural cells to type 2 inflammation. Sci Transl Med. 2016;8(359):359ra132. doi:10.1126/scitranslmed.aag1370

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O’Grady GL, Verschuuren C, Yuen M, et al. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. 2016;87(14):1442-1448. doi:10.1212/WNL.0000000000003179

Impaired autophagy in macrophages promotes inflammatory eye disease.

Santeford A, Wiley LA, Park S, et al. Impaired autophagy in macrophages promotes inflammatory eye disease. Autophagy. 2016;12(10):1876-1885. doi:10.1080/15548627.2016.1207857

Distinct genetic profiles of extracranial and intracranial acral melanoma metastases.

Sharma G, Lian CG, Lin WM, et al. Distinct genetic profiles of extracranial and intracranial acral melanoma metastases. J Cutan Pathol. 2016;43(10):884-91. doi:10.1111/cup.12746