Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Avni B Santani"'
Autor:
Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, Avni B. Santani
Publikováno v:
The Journal of Molecular Diagnostics. 24:274-286
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d49583b2fd1c4436346a76a80fce3d8
https://doi.org/10.1016/j.jmoldx.2021.12.002
https://doi.org/10.1016/j.jmoldx.2021.12.002
Autor:
Marco L. Leung, Jianling Ji, Samuel Baker, Jillian G. Buchan, Theru A. Sivakumaran, Bryan L. Krock, Rebecca Hutchins, Pinar Bayrak-Toydemir, John Pfeifer, Maria Laura Cremona, Birgit Funke, Avni B. Santani
Publikováno v:
The Journal of Molecular Diagnostics. 24:177-188
Exome reanalysis is useful for providing molecular diagnoses for previously uninformative samples. However, challenges exist in implementing a practical solution for clinicians and laboratories. This study complements the current literature by provid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049f79a7a645a6adca486cf7618c1894
https://doi.org/10.1016/j.jmoldx.2021.11.004
https://doi.org/10.1016/j.jmoldx.2021.11.004
Autor:
Jill R, Murrell, Addie May I, Nesbitt, Samuel W, Baker, Kieran B, Pechter, Jorune, Balciuniene, Xiaonan, Zhao, Elizabeth H, Denenberg, Elizabeth T, DeChene, Chao, Wu, Pushkala, Jayaraman, Kajia, Cao, Michael, Gonzalez, Marcella, Devoto, Alessandro, Testori, John D, Monos, Matthew C, Dulik, Laura K, Conlin, Minjie, Luo, Kristin, McDonald Gibson, Qiaoning, Guan, Mahdi, Sarmady, Elizabeth, Bhoj, Ingo, Helbig, Elaine H, Zackai, Emma C, Bedoukian, Alisha, Wilkens, Jennifer, Tarpinian, Kosuke, Izumi, Cara M, Skraban, Matthew A, Deardorff, Livija, Medne, Ian D, Krantz, Bryan L, Krock, Avni B, Santani
Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d01581239134e015d1fc0a4434842a48
http://hdl.handle.net/11573/1631215
http://hdl.handle.net/11573/1631215
Publikováno v:
PLoS ONE, Vol 9, Iss 7, p e103491 (2014)
Targeted DNA enrichment coupled with next generation sequencing has been increasingly used for interrogation of select sub-genomic regions at high depth of coverage in a cost effective manner. Specificity measured by on-target efficiency is a key per
Externí odkaz:
https://doaj.org/article/bb41ae6d86d4423ca952a296b34b6a51
Autor:
Rebecca C, Ahrens-Nicklas, George K E, Umanah, Neal, Sondheimer, Matthew A, Deardorff, Alisha B, Wilkens, Laura K, Conlin, Avni B, Santani, Addie, Nesbitt, Jane, Juulsola, Erica, Ma, Ted M, Dawson, Valina L, Dawson, Eric D, Marsh
Publikováno v:
Neurology: Genetics
Objective: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ffeb3a7349b37a58ffa67a48f2ca4fb7
https://pubmed.ncbi.nlm.nih.gov/28180185
https://pubmed.ncbi.nlm.nih.gov/28180185
Autor:
Matalon, Dena R., Stevenson, David A., Bhoj, Elizabeth J., Santani, Avni B., Keena, Beth, Cohen, Meryl S., Lin, Angela E., Sheppard, Sarah E., Zackai, Elaine H.
Publikováno v:
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1486-1493, 8p
Publikováno v:
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1345-1349, 5p
Autor:
Yu, Zhenming1 yuz2@email.chop.edu, Cao, Kajia1, Tischler, Tanya1, Stolle, Catherine A.1 santani@email.chop.edu, Santani, Avni B.1,2
Publikováno v:
PLoS ONE. Jul2014, Vol. 9 Issue 7, p1-7. 7p.
Publikováno v:
Human Mutation; Nov2018, Vol. 39 Issue 11, p1469-1472, 4p
Autor:
Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke
Publikováno v:
American Journal of Medical Genetics. Part A; Sep2018, Vol. 176 Issue 9, p1890-1896, 7p