Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders
Glessner, Joseph T, Li, Jin, Wang, Dai, March, Michael, Lima, Leandro, Desai, Akshatha, Hadley, Dexter, Kao, Charlly, Gur, Raquel E, Cohen, Nadine, Sleiman, Patrick M A, Li, Qingqin, Hakonarson, Hakon
Published in Genome medicine (30.11.2017)
Published in Genome medicine (30.11.2017)
Get full text
Journal Article
Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches
Li, Jin, Wei, Zhi, Li, Yun R., Maggadottir, S. Melkorka, Chang, Xiao, Desai, Akshatha, Hakonarson, Hakon
Published in Biochimica et biophysica acta (01.11.2016)
Published in Biochimica et biophysica acta (01.11.2016)
Get full text
Journal Article
Characterization of a 7 bp indel in MARCH1 promoter associated with reproductive traits in Malabari and Attappady Black goats of India
Desai, Akshatha G., Naicy, Thomas, Aravindakshan, T.V., Muhasin, V.N.A., Bindu, L., Kurian, Elizabeth, Bhat, Vasudhar, Akhil, G.H.
Published in Small ruminant research (01.11.2021)
Published in Small ruminant research (01.11.2021)
Get full text
Journal Article
CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease
Glessner, Joseph T., Li, Jin, Desai, Akshatha, Palmer, Melody, Kim, Dokyoon, Lucas, Anastasia Marie, Chang, Xiao, Connolly, John J., Almoguera, Berta, Harley, John B., Jarvik, Gail P., Ritchie, Marylyn D., Sleiman, Patrick M.A., Roden, Dan M., Crosslin, David, Hakonarson, Hakon
Published in International journal of cardiology (01.01.2020)
Published in International journal of cardiology (01.01.2020)
Get full text
Journal Article
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
Desai, Akshatha, Connolly, John J, March, Michael, Hou, Cuiping, Chiavacci, Rosetta, Kim, Cecilia, Lyon, Gholson, Hadley, Dexter, Hakonarson, Hakon
Published in BMC musculoskeletal disorders (16.02.2016)
Published in BMC musculoskeletal disorders (16.02.2016)
Get full text
Journal Article
Molecular Markers for Metabolic Adaptation in Dairy Cows: SNAI2 Gene Variations
Bhat, S.V. Vasudhar, Shynu, M., Divya, P.D., Desai, Akshatha G., Akhil, G.H.
Published in Journal of Dairying, Foods & Home Sciences (09.09.2021)
Published in Journal of Dairying, Foods & Home Sciences (09.09.2021)
Get full text
Journal Article