Zobrazeno 1 - 10
of 174
pro vyhledávání: '"David S Cram"'
Autor:
Jonathan Christos Niclis, Anita ePinar, John M Haynes, Walaa eAlsanie, Robert eJenny, Mirella eDottori, David S Cram
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 7 (2013)
Huntington's Disease (HD) is an incurable neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the Huntingtin gene. Recently, induced pluripotent stem cell lines carrying atypical and aggressive (CAG60+) HD variants have been gene
Externí odkaz:
https://doaj.org/article/30ef0f430e434059979f59e9a6038a28
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101816- (2024)
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to iden
Externí odkaz:
https://doaj.org/article/e268d0aa09ec4c1eab0f48514fd2d4a9
Autor:
Hong-Lei Duan, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods: This was a retrospective study on 29 pregn
Externí odkaz:
https://doaj.org/article/1e44f1a8164f4de582d0dd4789bb9971
Autor:
Qingmei Han, Ying Yang, Shengyang Wu, Yingchun Liao, Shuang Zhang, Hongbin Liang, David S. Cram, Yu Zhang
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Next-generation sequencing (NGS) is an efficient tool used for identifying pathogenic variants that cause Mendelian disorders. However, the lack of bioinformatics training of researchers makes the interpretation of identified vari
Externí odkaz:
https://doaj.org/article/1f753f65cabe47a4a00794e8fd248284
Autor:
Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-14 (2019)
Abstract Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome seque
Externí odkaz:
https://doaj.org/article/7faf6f4bae7e4d36bcd32209dc40ee79
Autor:
Li Wang, Xiaohong Wang, Min Li, Yun Liu, Xianghong Ou, Lei Chen, Xiaoguang Shao, Song Quan, Jinliang Duan, Wei He, Huan Shen, Ling Sun, Yuexin Yu, David S. Cram, Donald Leigh, Yuanqing Yao
Publikováno v:
Prenatal Diagnosis. 42:1211-1221
Preimplantation Genetic Testing - Aneuploidy (PGT-A) for embryo selection has undergone significant advancements in the last 2 decades and yet many studies still fail to demonstrate any clinical benefits over traditional embryo morphology selection (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ad919c4fedb9cdbf45b9ce3ffd175a
https://doi.org/10.1002/pd.6199
https://doi.org/10.1002/pd.6199
Autor:
Xiya Zhou, Xiangbin Chen, Yulin Jiang, Qingwei Qi, Na Hao, Chengkun Liu, Mengnan Xu, David S. Cram, Juntao Liu
Publikováno v:
Life, Vol 11, Iss 2, p 98 (2021)
Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagn
Externí odkaz:
https://doaj.org/article/35356813af1b4b339c56a39bfb70c3fc
Autor:
Panlai Shi, Hongbin Liang, Yaqin Hou, Duo Chen, Huanan Ren, Conghui Wang, Yanjie Xia, Da Zhang, Don Leigh, David S. Cram, Xiangdong Kong
Publikováno v:
American Journal of Obstetrics and Gynecology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96b21e32628f9cae263ccc07dab3cf8f
https://doi.org/10.1016/j.ajog.2023.01.022
https://doi.org/10.1016/j.ajog.2023.01.022
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1066-1071 (2021)
Objective To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities. Materials and methods This was a retrospective study on 29 pregnan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3683b7c884ae465e0188363ac39e309c
https://doi.org/10.1016/j.tjog.2021.09.018
https://doi.org/10.1016/j.tjog.2021.09.018
Autor:
Wei Hou, Shaoying Li, Ting Huang, Jun He, Qiwei Guo, Yanling Teng, Lingqian Wu, Yanqiu Liu, Ping Chen, Yulin Zhou, Shengwen Huang, Zongjie Lu, Zhaozhen Zhuo, Juan Tang, Yan Mou, Mengnan Xu, Yuezhen Li, Qing Li, Qiaowei Liang, Lanping Hu, Mao Tian, Wanqian Gu, David S. Cram, Rong Li, Lingfang Tang, Youqiong Li, Hongbo Qi, Yuhong Zhang, Qiaomiao Zhou
Publikováno v:
The Journal of Molecular Diagnostics. 23:1195-1204
The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS) approach termed comprehensive analysis of thalassemia alleles (CATSA) for identifying both α and β thalassemia genetic carrier status. Prospective blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4489c97fc9cb6fa3a051def51939e1e4
https://doi.org/10.1016/j.jmoldx.2021.06.008
https://doi.org/10.1016/j.jmoldx.2021.06.008