Marjorie I. and Bernard A. Mitchell Distinguished Service Professor of Human Genetics
Dean for Basic Science, Biological Sciences Division
My research focuses on the identification and characterization of heritable mutations that affect the nervous system. Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders using mouse models as well as genomic and bioinformatic approaches. I am collaborating with experts in data-mining and network topology, systems biology, large-scale computing, and statistical genetics to develop new approaches to map the multi-gene determinants of common neuropsychiatric disorders. By reducing possible gene-gene combinations to those documented in the literature or whole genome databases, we avoid the penalties of multiple-testing. We are also collaborating to build software solutions for large-scale data mining and data integration.
Harvard Medical School
Boston
Post-doc Fellow - Molecular Genetics
1985
University of London
Paddington, London
Post-doc Fellow - Molecular Genetics
1983
University of Missouri
Columbia, MO
PhD - Biochemistry
1981
Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer.
Unique somatic variants in DNA from urine exosomes of individuals with bladder cancer. Mol Ther Methods Clin Dev. 2021 Sep 10; 22:360-376.
PMID: 34514028
Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.
Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources. Brief Bioinform. 2019 09 27; 20(5):1754-1768.
PMID: 29931155
Molecular Interaction Network Approach (MINA) identifies association of novel candidate disease genes.
Molecular Interaction Network Approach (MINA) identifies association of novel candidate disease genes. MethodsX. 2019; 6:1286-1291.
PMID: 31198690
Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.
Sulakhe D, D'Souza M, Wang S, Balasubramanian S, Athri P, Xie B, Canzar S, Agam G, Gilliam TC, Maltsev N. Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources. Brief Bioinform. 2018 Jun 21.
PMID: 29931155
Thromboprophylaxis in Spinal Surgery.
Mosenthal WP, Landy DC, Boyajian HH, Idowu OA, Shi LL, Ramos E, Lee MJ. Thromboprophylaxis in Spinal Surgery. Spine (Phila Pa 1976). 2018 04 15; 43(8):E474-E481.
PMID: 15305058
Chemokine expression in the early response to injury in human airway epithelial cells.
Chemokine expression in the early response to injury in human airway epithelial cells. PLoS One. 2018; 13(3):e0193334.
PMID: 29534074
A p53-regulated apoptotic gene signature predicts treatment response and outcome in pediatric acute lymphoblastic leukemia.
A p53-regulated apoptotic gene signature predicts treatment response and outcome in pediatric acute lymphoblastic leukemia. Cancer Manag Res. 2017; 9:397-410.
PMID: 28979163
Lynx: a knowledge base and an analytical workbench for integrative medicine.
Lynx: a knowledge base and an analytical workbench for integrative medicine. Nucleic Acids Res. 2016 Jan 04; 44(D1):D882-7.
PMID: 26590263
Disease gene prioritization using network and feature.
Disease gene prioritization using network and feature. J Comput Biol. 2015 Apr; 22(4):313-23.
PMID: 25844670
An integrative computational approach for prioritization of genomic variants.
An integrative computational approach for prioritization of genomic variants. PLoS One. 2014; 9(12):e114903.
PMID: 25506935