Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1179 Records) |
| Query Trace: Whole genome sequencing[original query] |
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| Shallow whole genome sequencing approach to detect Homologous Recombination Deficiency in the PAOLA-1/ENGOT-OV25 phase-III trial. Oncogene 2023 11 . Celine Callens, Manuel Rodrigues, Adrien Briaux, Eleonore Frouin, Alexandre Eeckhoutte, Eric Pujade-Lauraine, Victor Renault, Dominique Stoppa-Lyonnet, Ivan Bieche, Guillaume Bataillon, Lucie Karayan-Tapon, Tristan Rochelle, Florian Heitz, Sabrina Chiara Cecere, Maria Jesús Rubio Pérez, Christoph Grimm, Trine Jakobi Nøttrup, Nicoletta Colombo, Ignace Vergote, Kan Yonemori, Isabelle Ray-Coquard, Marc-Henri Stern, Tatiana Popo |
| Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma. The Journal of allergy and clinical immunology 2023 11 . Selene Clay, Jehan Alladina, Neal P Smith, Cynthia M Visness, Robert A Wood, George T O'Connor, Robyn T Cohen, Gurjit K Khurana Hershey, Carolyn M Kercsmar, Rebecca S Gruchalla, Michelle A Gill, Andrew H Liu, Haejin Kim, Meyer Kattan, Leonard B Bacharier, Deepa Rastogi, Katherine Rivera-Spoljaric, Rachel G Robison, Peter J Gergen, William W Busse, Alexandra-Chloe Villani, Josalyn L Cho, Benjamin D Medoff, James E Gern, Daniel J Jackson, Carole C Ober, Matthew Dap |
| Genetic polymorphisms in vitamin E transport genes as determinants for risk of equine neuroaxonal dystrophy. Journal of veterinary internal medicine 2023 11 . Yunzhuo Ma, Sichong Peng, Callum G Donnelly, Sharmila Ghosh, Andrew D Miller, Kevin Woolard, Carrie J Fin |
| Impact of rare structural variant events in newly diagnosed multiple myeloma. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 11 . Monika Chojnacka, Benjamin Diamond, Bachisio Ziccheddu, Even Rustad, Kylee Maclachlan, Marios Papadimitriou, Eileen M Boyle, Patrick Blaney, Saad Usmani, Gareth Morgan, Ola Landgren, Francesco Mau |
| Identification of novel variants for complicating cardiac disease in the scrub typhus infection using whole genome sequencing. The Korean journal of internal medicine 2023 11 38 (6): 865-871. Ki-Woon Kang, Kyung-Won Hong, Seong-Kyu L |
| Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. Human molecular genetics 2023 11 . Alan Kwong, Matthew Zawistowski, Lars G Fritsche, Xiaowei Zhan, Jennifer Bragg-Gresham, Kari E Branham, Jayshree Advani, Mohammad Othman, Rinki Ratnapriya, Tanya M Teslovich, Dwight Stambolian, Emily Y Chew, Gonçalo R Abecasis, Anand Swaro |
| Homologous recombination deficiency (HRD) testing on cell-free tumor DNA from peritoneal fluid. Molecular cancer 2023 11 22 (1): 178. Cyril Roussel-Simonin, Felix Blanc-Durand, Roseline Tang, Damien Vasseur, Audrey Le Formal, Laure Chardin, Elisa Yaniz, Sébastien Gouy, Amandine Maulard, Stéphanie Scherier, Claire Sanson, Ludovic Lacroix, Sophie Cotteret, Lea Mauny, François Zaccarini, Etienne Rouleau, Alexandra Lea |
| APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry. JAMA neurology 2023 11 . Michael E Belloy, Shea J Andrews, Yann Le Guen, Michael Cuccaro, Lindsay A Farrer, Valerio Napolioni, Michael D Greici |
| Risk prediction of metachronous colorectal cancer from molecular features of adenomas: a nested case-control study. Cancer research communications 2023 11 . Henriette C Jodal, Eddymurphy U Akwiwu, Margriet Lemmens, Pien M Delis-van Diemen, Dagmar Klotz, Leticia G Leon, Soufyan Lakbir, Meike de Wit, Remond J A Fijneman, Monique E van Leerdam, Evelien Dekker, Manon Cw Spaander, Gerrit A Meijer, Magnus Løberg, Veerle M H Coupé, Mette Kalager, Beatriz Carval |
| Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease. medRxiv : the preprint server for health sciences 2023 11 . Michael H Guo, Wan-Ping Lee, Badri Vardarajan, Gerard D Schellenberg, Jennifer Phillips-Cremi |
| Molecular pathology as basis for timely cancer diagnosis and therapy. Virchows Archiv : an international journal of pathology 2023 11 . A Craig Mackinnon, Darshan Shimoga Chandrashekar, David I Sust |
| [The structure of pathogenic germline variants in colorectal cancer in Moscow patients]. Arkhiv patologii 2023 11 85 (6): 16-25. A B Semenova, M M Byakhova, M V Makarova, V N Galkin, M V Nemtsova, D K Chernevskiy, A M Danishevich, V G Shatalov, A V Babkina, N G Popova, S M Gadzhie |
| Association of Mitochondrial Variants with the Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis. Antioxidants (Basel, Switzerland) 2023 11 12 (11): . Natalia Zeber-Lubecka, Maria Kulecka, Katarzyna Suchta, Michalina D?browska, Micha? Ciebiera, Ewa E Henn |
| A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk. Neurobiology of aging 2023 11 134 66-73. Anni Moore, Peter Wild Crea, Mary Makarious, Sara Bandres-Ciga, Cornelis Blauwendraat, , Monica Diez-Fair |
| High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Translational research : the journal of laboratory and clinical medicine 2023 11 . Hui-Qi Qu, Joseph T Glessner, Jingchun Qu, Yichuan Liu, Deborah Watson, Xiao Chang, Amir Hossein Saeidian, Haijun Qiu, Frank D Mentch, John J Connolly, Hakon Hakonars |
| Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Human molecular genetics 2023 11 . Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Pat |
| Is Gauchian genotyping of GBA1 variants reliable? medRxiv : the preprint server for health sciences 2023 11 . Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidrans |
| The role of admixture in the rare variant contribution to inflammatory bowel disease. Genome medicine 2023 11 15 (1): 97. Courtney Astore, Shivam Sharma, Sini Nagpal, , David J Cutler, John D Rioux, Judy H Cho, Dermot P B McGovern, Steven R Brant, Subra Kugathasan, I King Jordan, Greg Gibs |
| Whole-genome Sequencing and RNA Sequencing Analysis Reveals Novel Risk Genes and Differential Expression Patterns in Hepatoblastoma. Gene 2023 11 147991. Wuqian Wang, Na Zhang, Luan Chen, Xianglong Zhao, Yuhua Shan, Fan Yang, Bo Wang, Hongxiang Gao, Min Xu, Ping Tang, Shengying Qin, Song |
| Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma. Cancers 2023 11 15 (21): . Ruby G Barford, Emily Whittle, Laura Weir, Fang Chyi Fong, Angharad Goodman, Hannah E Hartley, Lisa M Allinson, Deborah A Twedd |
| Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer's Disease in individuals of African Ancestry. Neurobiology of aging 2023 11 133 125-133. Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D Adams, Takiyah D Starks, Patrice L Whitehead, Brian W Kunkle, Allison Caban-Holt, Jonathan L Haines, Michael L Cuccaro, Jeffery M Vance, Goldie S Byrd, Gary W Beecham, Christiane Reitz, Margaret A Pericak-Vance, , |
| Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
| VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders. Molecular syndromology 2023 10 14 (5): 449-456. Danielle Bogue, Gavin Ryan, Evangeline Wassmer, Genomics England Research Consortium, Swati Na |
| Detection of Cancer-Associated Gene Mutations in Urinary Cell-Free DNA among Prostate Cancer Patients in South Africa. Genes 2023 10 14 (10): . Dada Oluwaseyi Temilola, Martha Wium, Juliano Paccez, Azola Samkele Salukazana, Solomon O Rotimi, Hasan H Otu, Giuseppina M Carbone, Lisa Kaestner, Stefano Cacciatore, Luiz Fernando Zerbi |
| Structural Variation Detection and Association Analysis of Whole-Genome-Sequence Data from 16,905 Alzheimer's Diseases Sequencing Project Subjects. Research square 2023 10 . Wan-Ping Lee, Hui Wang, Beth Dombroski, Po-Liang Cheng, Albert Tucci, Ya-Qin Si, John Farrell, Jung-Ying Tzeng, Yuk Yee Leung, John Malamon, Li-San Wang, Badri Vardarajan, Lindsay Farrer, Gerard Schellenberg, The Alzheimer's Disease Sequencing Project The Alzheimer's D Proje |
| Identification of telomere maintenance gene variations related to lung adenocarcinoma risk by genome-wide association and whole genome sequencing analyses. Cancer communications (London, England) 2023 10 . Kouya Shiraishi, Atsushi Takahashi, Yukihide Momozawa, Yataro Daigo, Syuzo Kaneko, Takahisa Kawaguchi, Hideo Kunitoh, Shingo Matsumoto, Hidehito Horinouchi, Akiteru Goto, Takayuki Honda, Kimihiro Shimizu, Masahiro Torasawa, Daisuke Takayanagi, Motonobu Saito, Akira Saito, Yuichiro Ohe, Shun-Ichi Watanabe, Koichi Goto, Masahiro Tsuboi, Katsuya Tsuchihara, Sadaaki Takata, Tomomi Aoi, Atsushi Takano, Masashi Kobayashi, Yohei Miyagi, Kazumi Tanaka, Hiroyuki Suzuki, Daichi Maeda, Takumi Yamaura, Maiko Matsuda, Yoko Shimada, Takaaki Mizuno, Hiromi Sakamoto, Teruhiko Yoshida, Yasushi Goto, Tatsuya Yoshida, Taiki Yamaji, Makoto Sonobe, Shinichi Toyooka, Kazue Yoneda, Katsuhiro Masago, Fumihiro Tanaka, Megumi Hara, Nobuo Fuse, Satoshi S Nishizuka, Noriko Motoi, Norie Sawada, Yuichiro Nishida, Kazuki Kumada, Kenji Takeuchi, Kozo Tanno, Yasushi Yatabe, Kuniko Sunami, Tomoyuki Hishida, Yasunari Miyazaki, Hidemi Ito, Mitsuhiro Amemiya, Hirohiko Totsuka, Haruhiko Nakayama, Tomoyuki Yokose, Kazuyoshi Ishigaki, Toshiteru Nagashima, Yoichi Ohtaki, Kazuhiro Imai, Ken Takasawa, Yoshihiro Minamiya, Kazuma Kobayashi, Kenichi Okubo, Kenji Wakai, Atsushi Shimizu, Masayuki Yamamoto, Motoki Iwasaki, Koichi Matsuda, Johji Inazawa, Yuichi Shiraishi, Hiroyoshi Nishikawa, Yoshinori Murakami, Michiaki Kubo, Fumihiko Matsuda, Yoichiro Kamatani, Ryuji Hamamoto, Keitaro Matsuo, Takashi Koh |
| Ultrarare Missense Variants Implicated in Utah Pedigrees Multiply Affected With Schizophrenia. Biological psychiatry global open science 2023 10 3 (4): 797-802. Cathal Ormond, Niamh M Ryan, Elizabeth A Heron, Michael Gill, William Byerley, Aiden Corv |
| Nivolumab and ipilimumab in recurrent or refractory cancer of unknown primary: a phase II trial. Nature communications 2023 10 14 (1): 6761. Maria Pouyiourou, Bianca N Kraft, Timothy Wohlfromm, Michael Stahl, Boris Kubuschok, Harald Löffler, Ulrich T Hacker, Gerdt Hübner, Lena Weiss, Michael Bitzer, Thomas Ernst, Philipp Schütt, Thomas Hielscher, Stefan Delorme, Martina Kirchner, Daniel Kazdal, Markus Ball, Klaus Kluck, Albrecht Stenzinger, Tilmann Bochtler, Alwin Kräm |
| Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. NPJ genomic medicine 2023 10 8 (1): 33. Na Zhu, Charles A LeDuc, Ilene Fennoy, Blandine Laferrère, Claudia A Doege, Yufeng Shen, Wendy K Chung, Rudolph L Leib |
| CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT. Experimental oncology 2023 10 45 (2): 161-169. L Fishchuk, O Lobanova, Z Rossokha, V Cheshuk, R Vereshchako, Yu Vagyn, V Kashuba, V Vershyhora, O Popova, N Levkovich, O Zemlianska, O Ievseienkova, S Podolska, N Goroven |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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