Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Frederick G. Otieno"'
Autor:
Dina J. Zand, Jeffrey A. Cleveland, Patrick M. A. Sleiman, Denise W. Metry, Lifeng Tian, Eniko Papp, Hakon Hakonarson, Nada Abdel-Magid, Cecilia E. Kim, Yiran Guo, Sandra Catalina Camacho, Elaine H. Zackai, Dong Li, Elizabeth McPherson, Jean-Christophe Fournet, Guy Vaksmann, Cyril Morisot, Olga Camacho-Vanegas, Brendan J. Keating, Maria Celeste M. Ramirez, David B. Everman, Ben Tweddale, Frederick G. Otieno, Carrie Zabel, John A. Martignetti, Cuiping Hou, Audrey M. Bernstein, Sandra K. Masur
Publikováno v:
The American Journal of Human Genetics. 92(6):1001-1007
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f973fceeac5e1e60209505167624ba
Autor:
Joseph Piven, Edward C. Frackelton, Christopher J. McDougle, Patrick M. A. Sleiman, Rosetta M. Chiavacci, John A. Sweeney, Guiqing Cai, Gerard D. Schellenberg, Camille W. Brune, Cuiping Hou, Shana M. Michaels, Rachel M. Game, Wendy Glaberson, Kai Wang, Raphael Bernier, Maja Bucan, Danielle Zurawiecki, Susan E. Levy, Alexander Kolevzon, Hilary Coon, Jeremy M. Silverman, Cecilia E. Kim, Latha Soorya, Nancy J. Minshew, Danielle S. Rudd, David J. Posey, Kacie J. Meyer, James H. Flory, Geraldine Dawson, Emily L. Crawford, Lea K. Davis, Judith Miller, Lambertus Klei, James S. Sutcliffe, Maria Garris, Evdokia Anagnostou, Annette Estes, Marcin Imielinski, Kelly A. Thomas, John I. Nurnberger, Struan F.A. Grant, Thomas H. Wassink, Hakon Hakonarson, Jonathan P. Bradfield, Edwin H. Cook, Bernie Devlin, Frederick G. Otieno, Joseph D. Buxbaum, Shawn Wood, Takeshi Sakurai, Robert T. Schultz, Jeffrey Munson, Thomas Owley, Kiran Annaiah, Joseph T. Glessner, Jennifer Reichert, Haitao Zhang, William M. McMahon, Olena Korvatska
Publikováno v:
Nature. 459:569-573
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843b651f351c30057edfc7d02605efdb
https://doi.org/10.1038/nature07953
https://doi.org/10.1038/nature07953
Autor:
Giulia Giannuzzi, Cuiping Hou, Ferdinando Palmieri, Cecilia E. Kim, Yiran Guo, Emily Place, Xiaowu Gai, Marni J. Falk, Lifeng Tian, Lyam Vazquez, Nada Abdel-Magid, Hui Jiang, Elizabeth M. McCormick, Hakon Hakonarson, Francesco M. Lasorsa, Jinlong Liang, Rosetta M. Chiavacci, Frederick G. Otieno, Frank D. Mentch, Dong Li, Eric D. Marsh, Xuanzhu Liu
Publikováno v:
JIMD Reports ISBN: 9783662437476
Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac55cd052cfc06201b8646fba1a8b57
https://europepmc.org/articles/PMC4213340/
https://europepmc.org/articles/PMC4213340/
Autor:
Kelly A. Thomas, Brith Otterud, Fengxiang Wang, Rytis Prekeris, Tena Varvil, Dongying Li, Tami Leppert, Karen S. Ho, Jeff Stevens, Mark Leppert, Cecilia Kim, Renata Pellegrino, Frederick G. Otieno, Christophe G. Lambert, Hakon Hakonarson, Lisa Baird, Gerald B Christensen, Nori Matsunami, Dexter Hadley, Joseph T. Glessner, Charles H. Hensel
Publikováno v:
Molecular Autism
Background: Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9457fb9fb75d00b2cb816c2455433a
https://doi.org/10.1186/2040-2392-5-5
https://doi.org/10.1186/2040-2392-5-5
Autor:
Cecilia E. Kim, Xiaowu Gai, Ferdinando Palmieri, Cuiping Hou, Lyam Vazquez, Eric D. Marsh, Rosetta M. Chiavacci, Nada Abdel-Magid, Jinlong Liang, Frederick G. Otieno, Marni J. Falk, Giulia Giannuzzi, Xuanzhu Liu, Guo Yiran, Hakon Hakonarson, Elizabeth M. McCormick, Francesco M. Lasorsa, Hui Jiang, Dong Li, Frank D. Mentch, Emily Place, Lifeng Tian
Publikováno v:
JIMD Reports ISBN: 9783662437476
Background: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5abe793afbc0bccd186ef020d40587b8
https://doi.org/10.1007/8904_2013_287
https://doi.org/10.1007/8904_2013_287
Autor:
Joseph T. Glessner, Haitao Zhang, Struan F.A. Grant, Frederick G. Otieno, Muredach P. Reilly, Kelly A. Thomas, Anthony Albano, Nagahide Takahashi, Maria Garris, Thomas P. Cappola, James H. Flory, Rosetta M. Chiavacci, Raquel E. Gur, Joseph D. Buxbaum, Daniel J. Rader, Cecilia E. Kim, Kenneth L. Davis, Kenneth B. Margulies, Edward C. Frackelton, Jonathan P. Bradfield, Marcin Imielinski, Michael Davidson, Hakon Hakonarson, Patrick M. A. Sleiman, Cuiping Hou, Joseph I. Friedman, Abraham Reichenberg, Mark Weiser
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 107(23)
Schizophrenia is a psychiatric disorder with onset in late adolescence and unclear etiology characterized by both positive and negative symptoms, as well as cognitive deficits. To identify copy number variations (CNVs) that increase the risk of schiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0160cc5af4fa482c99d1ec633e509b
https://pubmed.ncbi.nlm.nih.gov/20489179
https://pubmed.ncbi.nlm.nih.gov/20489179
Autor:
Marni J. Falk, Frederick G. Otieno, Lyam Vazquez, Emily Place, Elizabeth M. McCormick, Rosetta M. Chiavacci, Xiaowu Gai, Lifeng Tian, Frank D. Mentch, Hui Jiang, Nada Abdel-Magid, Eric D. Marsh, Ferdinando Palmieri, Cecilia E. Kim, Yiran Guo, Giuseppe Fiermonte, Dong Li, Giulia Giannuzzi, Francesco M. Lasorsa, Xuanzhu Liu, Hakon Hakonarson, Jinlong Liang, Cuiping Hou
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1837:e74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1173ee6dac0cd39643dec1cd540600
https://doi.org/10.1016/j.bbabio.2014.05.021
https://doi.org/10.1016/j.bbabio.2014.05.021
Autor:
Hakon Hakonarson, Elina Toskala, Kelly A. Thomas, Ryan Golhar, Jonathan P. Bradfield, Kai Wang, Gholson J. Lyon, Cecilia Kim, Yunfei Guo, Frederick G. Otieno, Christopher J. Cardinale, Cuiping Hou
Publikováno v:
Genome Medicine
Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1465c30df3742499a92e8b204e02f999