Bio

Lyam Vazquez

Lyam Vazquez, MD, is a Research Associate at the Center for Applied Genomics. She joined CAG in 2010, and works primarily on clinical phenotyping and the development of phenotype algorithms to abstract information from Electronic Health Records. She is also experienced in cell culture and Comparative Genomic Hybridization (CGH).

Dr. Vazquez holds an M.D. from the University of Puerto Rico, School of Medicine, and a B.S. from the University of Puerto Rico.

Publications

CAG Publications

An updated list of publications is available at My NCBI Collections.
Relevant papers include:

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.



The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J; AGP Consortium, Glessner J, Hakonarson H.
Nat Commun. 2014 Jun 13;5:4074. doi: 10.1038/ncomms5074.



Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.
Almoguera B, Vazquez L, Connolly JJ, Bradfield J, Sleiman P, Keating B, Hakonarson H.
Front Genet. 2014;5:96. doi: 10.3389/fgene.2014.00096.



Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.
Ophthalmic Genet. 2014 Feb 19. [Epub ahead of print]



AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11.