Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Geetu Mendiratta"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101667- (2024)
Externí odkaz:
https://doaj.org/article/63a4d14d61b04a3dbc73c152b890b9ac
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz:
https://doaj.org/article/6d3ee0c27468471986227a368547920f
Autor:
Ritu Kushwaha, Nirmala Jagadish, Manjunath Kustagi, Geetu Mendiratta, Marco Seandel, Rekha Soni, James E. Korkola, Venkata Thodima, Andrea Califano, George J. Bosl, R.S.K. Chaganti
Publikováno v:
Stem Cell Reports, Vol 6, Iss 5, Pp 772-783 (2016)
Human male germ cell tumors (GCTs) are derived from primordial germ cells (PGCs). The master pluripotency regulator and neuroectodermal lineage effector transcription factor SOX2 is repressed in PGCs and the seminoma (SEM) subset of GCTs. The mechani
Externí odkaz:
https://doaj.org/article/bd88eb4968734926974e7858d2b5c5a4
Autor:
Funda Suer, Zehra Mazur, Ying Zhang, Neal Cody, Rebecca Fox, Jay Shaw, Lisong Shi, Vibha Shrivastava, Geetu Mendiratta, Scott Newman, Andrew Kasarskis, Kejian Zhang, Rebekah Zimmerman, Ruth Kornreich, Eric E. Schadt, Lisa Edelmann, Aslihan Dincer
Publikováno v:
Genetics in Medicine. 24:S69-S70
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ab184f90caf11615f1d73fc774b0113
https://doi.org/10.1016/j.gim.2022.01.145
https://doi.org/10.1016/j.gim.2022.01.145
Autor:
Raymon Vijzelaar, Lisong Shi, Ruth Kornreich, Mariana R. Botton, Suparna Martis, Stuart A. Scott, Lisa Edelmann, Geetu Mendiratta, Yao Yang, Wanqiong Qiao, Andrea Gaedigk, Robert J. Desnick
Publikováno v:
Pharmacogenomics. 20:9-20
Aim: To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Methods: Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20aa568c53fe17db8e1c1dbc18d24c50
https://doi.org/10.2217/pgs-2018-0135
https://doi.org/10.2217/pgs-2018-0135
Autor:
Ram, Singh, Ana S A, Cohen, Cathryn, Poulton, Tina Duelund, Hjortshøj, Moe, Akahira-Azuma, Geetu, Mendiratta, Wahab A, Khan, Dimitar N, Azmanov, Karen J, Woodward, Maria, Kirchhoff, Lisong, Shi, Lisa, Edelmann, Gareth, Baynam, Stuart A, Scott, Ethylin Wang, Jabs
Publikováno v:
Cold Spring Harbor Molecular Case Studies
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bbcb0e89bc87825bea96a82ae2f8c83f
https://pubmed.ncbi.nlm.nih.gov/34117072
https://pubmed.ncbi.nlm.nih.gov/34117072
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
The cover image is based on the Original Article Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al., https://doi.org/10.1002/mgg3.1053. [Image: see te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283b3feb4366124461802cc7aae1119
https://europepmc.org/articles/PMC7005609/
https://europepmc.org/articles/PMC7005609/
Autor:
Geetu Mendiratta‐Vij, Xiaoqiang Cai, Lisong Shi, Mitchell W Dillon, Guiqing Cai, Andrew S McLellan, Ashley H. Birch, Funda E. Suer, Anastasia M. Larmore, Lisa Edelmann, Gidon Akler, Eric E. Schadt, Bryn D. Webb, Nicole Schreiber‐Agus, Chunli Yu, Jun Zhu, Lama Elkhoury, Ruth Kornreich
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wide targete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a1b70179958dfb7e378d4953cafdb7
http://europepmc.org/articles/PMC7005669
http://europepmc.org/articles/PMC7005669
Autor:
Ana S. A. Cohen, Gareth Baynam, Ethylin Wang Jabs, Tina Duelund Hjortshøj, Dimitar N. Azmanov, Karen J. Woodward, Wahab A. Khan, Cathryn Poulton, Ram Singh, Maria Kirchhoff, Stuart A. Scott, Lisong Shi, Geetu Mendiratta, Lisa Edelmann, Moe Akahira-Azuma
Publikováno v:
Molecular Case Studies. 7:a005991
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::174276cdd85caa4192c70339651008a6
https://doi.org/10.1101/mcs.a005991
https://doi.org/10.1101/mcs.a005991
Autor:
Jamileh Rezazadeh, Xiaoqian Ye, Barbara Vona, Siwu Peng, Lisong Shi, Paulina Bahena, Caroline Lekszas, Matthew Croken, Reza Maroofian, Lisa Edelmann, Geetu Mendiratta, Thomas Haaf
Publikováno v:
Web of Science
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129f63eca0d6fe266aeaebcc7b9ebc89
https://doi.org/10.1159/000480458
https://doi.org/10.1159/000480458