Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 389 Records) |
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Ethnically unique disease burden and limitations of current expanded carrier screening panels. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 9 . Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan L |
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1211-1216. Qiqing Sun, Fangjie Wang, Linbo Su, Kun He, Yingying Li, Chanjuan Hao, Wei Li, Jun G |
[Characterization of genetic variants in children with refractory epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1204-1210. Kaixuan Wang, Dandan Cai, Fang Sheng, Dayan Wang, Xubo Qian, Jing Zhang, Xueyan Jiang, Lidan Xu, Yanting |
[Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1155-1159. Xuhui Sun, Min Xin, Jingmei Tian, Yingying Zhang, Qinqin Jiao, Yong Yang, Jinxiu L |
NEXMIF variants are associated with epilepsy with or without intellectual disability. Seizure 2023 8 . Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu S |
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
ATP6V1A variants are associated with childhood epilepsy with favorable outcome. Seizure 2023 8 . Bin Li, Song Lan, Xiao-Rong Liu, Jing-Jing Ji, Yun-Yan He, Dong-Ming Zhang, Jie Xu, Hui Sun, Zhen Shi, Jie Wang, Yang Ti |
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients. European journal of human genetics : EJHG 2023 7 . Christopher Schroeder, Ulrike Faust, Luisa Krauße, Alexandra Liebmann, Michael Abele, German Demidov, Leon Schütz, Olga Kelemen, Alexandra Pohle, Silja Gauß, Marc Sturm, Cristiana Roggia, Monika Streiter, Rebecca Buchert, Sorin Armenau-Ebinger, Dominik Nann, Rudi Beschorner, Rupert Handgretinger, Martin Ebinger, Peter Lang, Ursula Holzer, Julia Skokowa, Stephan Ossowski, Tobias B Haack, Ulrike A Mau-Holzmann, Andreas Dufke, Olaf Riess, Ines B Brec |
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population. Frontiers in genetics 2023 6 14 1155211. Priyanka Srivastava, Chitra Bamba, Seema Chopra, Minakshi Rohilla, Chakshu Chaudhry, Anupriya Kaur, Inusha Panigrahi, Kausik Mand |
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance. Genetics in medicine : official journal of the American College of Medical Genetics 2023 5 100883. Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan, Odile Boute, Corinne Collet, David Johnson, Fanny Laffargue, Nicole de Leeuw, Jenny V Morton, Peter Noons, Charlotte W Ockeloen, Julie M Phipps, Tiong Yang Tan, Andrew T Timberlake, Clemence Vanlerberghe, Steven A Wall, Astrid Weber, Louise C Wilson, Elaine H Zackai, Irene M J Mathijssen, Stephen R F Twigg, Andrew O M Wilk |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654. Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha |
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly. Frontiers in genetics 2023 5 14 1165780. Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E Hea |
[Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 4 40 (5): 563-567. Hairui Sun, Hongjia Zhang, Yihua |
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European journal of human genetics : EJHG 2023 3 . Giovenino Chiara, Trajkova Slavica, Pavinato Lisa, Cardaropoli Simona, Pullano Verdiana, Ferrero Enza, Sukarova-Angelovska Elena, Carestiato Silvia, Salmin Paola, Rinninella Antonina, Battaglia Anthony, Bertoli Luca, Fadda Antonio, Palermo Flavia, Carli Diana, Mussa Alessandro, Dimartino Paola, Bruselles Alessandro, Froukh Tawfiq, Mandrile Giorgia, Pasini Barbara, De Rubeis Silvia, Buxbaum Joseph D, Pippucci Tommaso, Tartaglia Marco, Rossato Marzia, Delledonne Massimo, Ferrero Giovanni Battista, Brusco Alfre |
Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case-Parent Trio Study. Global medical genetics 2023 3 10 (1): 34-37. Khan Mahamad Irfanulla, Cs Prashanth, Srinath N, Neela Praveen K, Mohiuddin Mohammed |
KIR genotype and haplotype repertoire in Kuwaiti healthy donors, hematopoietic cell transplant recipients and healthy family members. HLA 2023 3 . Ameen Reem, Titus Roshni, Geo Jeethu Anu, Al Shemmari Salem, Geraghty Daniel E, Pyo Chul-Woo, Askar Medh |
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. American journal of medical genetics. Part A 2023 3 . Sok Pagna, Sabo Aniko, Almli Lynn M, Jenkins Mary M, Nembhard Wendy N, Agopian A J, Bamshad Michael J, Blue Elizabeth E, Brody Lawrence C, Brown Austin L, Browne Marilyn L, Canfield Mark A, Carmichael Suzan L, Chong Jessica X, Dugan-Perez Shannon, Feldkamp Marcia L, Finnell Richard H, Gibbs Richard A, Kay Denise M, Lei Yunping, Meng Qingchang, Moore Cynthia A, Mullikin James C, Muzny Donna, Olshan Andrew F, Pangilinan Faith, Reefhuis Jennita, Romitti Paul A, Schraw Jeremy M, Shaw Gary M, Werler Martha M, Harpavat Sanjiv, Lupo Philip J, |
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage. Seizure 2023 3 . Zou Dong-Fang, Li Xiao-Yan, Lu Xin-Guo, Wang Huai-Li, Song Wang, Zhang Meng-Wen, Liu Xiao-Rong, Li Bing-Mei, Liao Jian-Xiang, Zhong Jian-Min, Meng Heng, Li B |
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. Frontiers in genetics 2023 3 14 1032346. Huang Yanlin, Liu Chang, Ding Hongke, Wang Yunan, Yu Lihua, Guo Fangfang, Li Fake, Shi Xiaomei, Zhang Yan, Yin Aih |
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in neurology 2023 12 14 1276238. Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuha |
Genetic Trio of BRAF and TERT Mutations and rs2853669TT in Papillary Thyroid Cancer Aggressiveness. Journal of the National Cancer Institute 2023 12 . Rengyun Liu, Guangwu Zhu, Jie Tan, Xiaopei Shen, Mingzhao Xi |
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly. HGG advances 2023 11 100258. Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S Johar, Iftikhar J Kullo, Keyue Di |
[Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1517-1520. Xiangyu Zhu, Peixuan Cao, Yujie Zhu, Jie |
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. Clinical genetics 2024 1 . Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen, |
Spatial architectures of somatic mutations in normal prostate, benign prostatic hyperplasia and coexisting prostate cancer. Experimental & molecular medicine 2024 1 . Jeesoo Chae, Seung-Hyun Jung, Eun Ji Choi, Jae Woong Kim, Na Yung Kim, Sung Won Moon, Ji Youl Lee, Yeun-Jun Chung, Sug Hyung L |
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. Scientific reports 2024 1 14 (1): 238. Mengmeng Li, Na Hao, Yulin Jiang, Huili Xue, Yifang Dai, Mingming Wang, Junjie Bai, Yan Lv, Qingwei Qi, Xiya Zh |
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing. Scientific reports 2024 1 14 (1): 2190. Huili Xue, Aili Yu, Lin Zhang, Lingji Chen, Qun Guo, Min Lin, Na Lin, Xuemei Chen, Liangpu Xu, Hailong Hua |
Genotype and phenotype correlation of PHACTR1-related neurological disorders. Journal of medical genetics 2024 1 . Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Ya |
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half. International journal of molecular sciences 2024 1 25 (2): . Omri Bar, Elizabeth Vahey, Mark Mintz, Richard E Frye, Richard G Bol |
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- Page last updated:Apr 22, 2024
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