Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Akshatha Desai"'
Autor:
Joseph T. Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E. Gur, Nadine Cohen, Patrick M. A. Sleiman, Qingqin Li, Hakon Hakonarson, the Janssen-CHOP Neuropsychiatric Genomics Working Group
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Abstract Background Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim
Externí odkaz:
https://doaj.org/article/2581163f3187444ebc130b849821fda2
Autor:
Berta Almoguera, Dokyoon Kim, Jin Li, Xiao Chang, Marylyn D. Ritchie, Gail P. Jarvik, Joseph T. Glessner, Anastasia Lucas, John B. Harley, Patrick M. A. Sleiman, John J. Connolly, Akshatha Desai, Dan M. Roden, David R. Crosslin, Hakon Hakonarson, Melody Palmer
Publikováno v:
International journal of cardiology. 298
Background Cardiovascular disease is the leading cause of death in the United States. Consequently, individuals who are genetically predisposed for high risk of cardiovascular disease would benefit most from prevention and early intervention approach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6eb9e0698fd8c01afad053accce4cd7
https://pubmed.ncbi.nlm.nih.gov/31447229
https://pubmed.ncbi.nlm.nih.gov/31447229
Autor:
S. Melkorka Maggadottir, Xiao Chang, Akshatha Desai, Yun Li, Jin Li, Hakon Hakonarson, Zhi Wei
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 1860:2656-2663
Background Common variable immunodeficiency disorder (CVID) is the most frequently encountered symptomatic primary immunodeficiency, characterized by highly heterogeneous immunological features and clinical presentations. As better targeted therapies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e1504a26ffeeaaed30d4a55e276ea02
https://doi.org/10.1016/j.bbagen.2016.06.014
https://doi.org/10.1016/j.bbagen.2016.06.014
Autor:
Patrick M. A. Sleiman, Dexter Hadley, Nadine Cohen, Raquel E. Gur, Dai Wang, Joseph T. Glessner, Akshatha Desai, Qingqin Li, Leandro Lima, Michael E. March, Jin Li, Hakon Hakonarson, Charlly Kao
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Genome Medicine
Genome Medicine
Background Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim to identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebda239c1d6276bb45e1a1561a72aaa
https://doi.org/10.1186/s13073-017-0494-1
https://doi.org/10.1186/s13073-017-0494-1
Autor:
Glessner, Joseph, Li, Jin, Wang, Dai, March, Michael, Lima, Leandro, Akshatha Desai, Hadley, Dexter, Charlly Kao, Gur, Raquel, Cohen, Nadine, Sleiman, Patrick, Qingqin Li, Hakon Hakonarson
Figure S1. Circular plot showing the intersections of genes harboring case-enriched CNVs between the five neuropsychiatric cohorts. Figure S2. The BAF and LRR plots of ZNF280A deletions. Figure S3. The BAF and LRR plots of DOCK8/KANK1 duplications. F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9cb8f14f15bfcbdb6c52fb47f81d29
Autor:
Rosetta M. Chiavacci, Cuiping Hou, John J. Connolly, Michael E. March, Cecilia Kim, Dexter Hadley, Hakon Hakonarson, Akshatha Desai, Gholson J. Lyon
Publikováno v:
BMC Musculoskeletal Disorders
Background Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as “Derm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::946cb93d719fd6fa4fe3ef8d282cb2f8
http://europepmc.org/articles/PMC4754938
http://europepmc.org/articles/PMC4754938