Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 1083 Records) |
| Query Trace: Whole genome sequencing[original query] |
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| Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing. Journal of neurosurgical sciences 2023 5 . Ahmed Ammar, Dalal K Bubshait, Abdulrazaq Al Ojan, Shuroq A Alshari, Cyril Cyrus, Rawan Alanazi, Mohammed A Al Ghamdi, Brendan J Keating, Abdulrahman Al-Anazi, Noorah H Al Qahtani, Amein K Al-A |
| Genetic landscape of human platelet antigen variants in the Indian population analysed from 1029 whole genomes. International journal of immunogenetics 2023 5 50 (3): 134-143. Mercy Rophina, Rahul C Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Aastha Vatsyayan, Bani Jolly, Sridhar Sivasubbu, Vinod Scar |
| The mutational signatures of poor treatment outcomes on the drug-susceptible Mycobacterium tuberculosis genome. eLife 2023 5 12 . Yiwang Chen, Qi Jiang, Mijiti Peierdun, Howard E Takiff, Qian G |
| Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort. International journal of molecular sciences 2023 5 24 (10): . Orsolya Pipek, Donát Alpár, Orsolya Rusz, Csaba Bödör, Zoltán Udvarnoki, Anna Medgyes-Horváth, István Csabai, Zoltán Szállási, Lilla Madaras, Zsuzsanna Kahán, Gábor Cserni, Bence K?vári, Janina Kulka, Anna Mária T?k |
| Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data. Frontiers in pharmacology 2023 5 14 1178715. Luciana Bertholim-Nasciben, Marilia O Scliar, Guilherme Debortoli, Bhooma Thiruvahindrapuram, Stephen W Scherer, Yeda A O Duarte, Mayana Zatz, Guilherme Suarez-Kurtz, Esteban J Parra, Michel S Naslavs |
| The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome. HGG advances 2023 5 4 (3): 100199. Ruipeng Wei, Lamis Yehia, Ying Ni, Charis E |
| The landscape of tolerated genetic variation in humans and primates. bioRxiv : the preprint server for biology 2023 5 . Hong Gao, Tobias Hamp, Jeffrey Ede, Joshua G Schraiber, Jeremy McRae, Moriel Singer-Berk, Yanshen Yang, Anastasia Dietrich, Petko Fiziev, Lukas Kuderna, Laksshman Sundaram, Yibing Wu, Aashish Adhikari, Yair Field, Chen Chen, Serafim Batzoglou, Francois Aguet, Gabrielle Lemire, Rebecca Reimers, Daniel Balick, Mareike C Janiak, Martin Kuhlwilm, Joseph D Orkin, Shivakumara Manu, Alejandro Valenzuela, Juraj Bergman, Marjolaine Rouselle, Felipe Ennes Silva, Lidia Agueda, Julie Blanc, Marta Gut, Dorien de Vries, Ian Goodhead, R Alan Harris, Muthuswamy Raveendran, Axel Jensen, Idriss S Chuma, Julie Horvath, Christina Hvilsom, David Juan, Peter Frandsen, Fabiano R de Melo, Fabricio Bertuol, Hazel Byrne, Iracilda Sampaio, Izeni Farias, João Valsecchi do Amaral, Mariluce Messias, Maria N F da Silva, Mihir Trivedi, Rogerio Rossi, Tomas Hrbek, Nicole Andriaholinirina, Clément J Rabarivola, Alphonse Zaramody, Clifford J Jolly, Jane Phillips-Conroy, Gregory Wilkerson, Christian Abee, Joe H Simmons, Eduardo Fernandez-Duque, Ee Kanthaswamy, Fekadu Shiferaw, Dongdong Wu, Long Zhou, Yong Shao, Guojie Zhang, Julius D Keyyu, Sascha Knauf, Minh D Le, Esther Lizano, Stefan Merker, Arcadi Navarro, Thomas Batallion, Tilo Nadler, Chiea Chuen Khor, Jessica Lee, Patrick Tan, Weng Khong Lim, Andrew C Kitchener, Dietmar Zinner, Ivo Gut, Amanda Melin, Katerina Guschanski, Mikkel Heide Schierup, Robin M D Beck, Govindhaswamy Umapathy, Christian Roos, Jean P Boubli, Monkol Lek, Shamil Sunyaev, Anne O'Donnell, Heidi Rehm, Jinbo Xu, Jeffrey Rogers, Tomas Marques-Bonet, Kyle Kai-How Fa |
| Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk. Molecular genetics and metabolism 2023 5 139 (2): 107608. Orly Goldstein, Mali Gana-Weisz, Sandro Banfi, Vincenzo Nigro, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreg |
| The intratumor microbiome is associated with microsatellite instability. Journal of the National Cancer Institute 2023 5 . Doratha A Byrd, Wenyi Fan, K Leigh Greathouse, Michael C Wu, Hao Xie, Xuefeng Wa |
| Genetic predisposition to neuroblastoma results from a regulatory polymorphism that promotes the adrenergic cell state. The Journal of clinical investigation 2023 5 133 (10): . Nina Weichert-Leahey, Hui Shi, Ting Tao, Derek A Oldridge, Adam D Durbin, Brian J Abraham, Mark W Zimmerman, Shizhen Zhu, Andrew C Wood, Deepak Reyon, J Keith Joung, Richard A Young, Sharon J Diskin, John M Maris, A Thomas Lo |
| The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results. International journal of molecular sciences 2023 5 24 (9): . Maria Makarova, Marina Nemtsova, Anastasiia Danishevich, Denis Chernevskiy, Maxim Belenikin, Anastasiia Krinitsina, Elena Baranova, Olesya Sagaydak, Maria Vorontsova, Igor Khatkov, Lyudmila Zhukova, Natalia Bodunova, Sergey Nikolaev, Mariya Byakhova, Anna Semenova, Vsevolod Galkin, Saida Gadzhie |
| Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 . Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi |
| Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers. Nature communications 2023 4 14 (1): 1958. Ter Brugge Petra, Moser Sarah C, Bièche Ivan, Kristel Petra, Ibadioune Sabrina, Eeckhoutte Alexandre, de Bruijn Roebi, van der Burg Eline, Lutz Catrin, Annunziato Stefano, de Ruiter Julian, Masliah Planchon Julien, Vacher Sophie, Courtois Laura, El-Botty Rania, Dahmani Ahmed, Montaudon Elodie, Morisset Ludivine, Sourd Laura, Huguet Léa, Derrien Heloise, Nemati Fariba, Chateau-Joubert Sophie, Larcher Thibaut, Salomon Anne, Decaudin Didier, Reyal Fabien, Coussy Florence, Popova Tatiana, Wesseling Jelle, Stern Marc-Henri, Jonkers Jos, Marangoni Elisabet |
| Genetic analysis of familial predisposition in the pathogenesis of malignant pleural mesothelioma. Journal of cancer research and clinical oncology 2023 4 . Akarsu Muhittin, Ak Güntülü, Dündar Emine, Metinta? Muzaff |
| Somatic exonic deletions in RUNX1 constitutes a novel recurrent genomic abnormality in acute myeloid leukemia. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 4 . Eriksson Anna, Engvall Marie, Mathot Lucy, Österroos Albin, Rippin Martin, Cavelier Lucia, Ladenvall Claes, Baliakas Panagiot |
| Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. Metabolic brain disease 2023 4 . Liang Yingjun, Gao Xiaolan, Lu Deyun, Zhang Huiwen, Zhan |
| Germline DNA-Repair Genes and HOXB13 Mutations in Korean Men with Metastatic Prostate Cancer: Data from a Large Korean Cohort. The world journal of men's health 2023 4 . Sang Hun Song, Hak-Min Kim, Yu Jin Jung, Ha Rim Kook, Sungwon Jeon, Jong Bhak, Jin Hyuck Kim, Hakmin Lee, Jong Jin Oh, Sangchul Lee, Sung Kyu Hong, Seok-Soo By |
| Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers. Parkinsonism & related disorders 2023 4 111 105398. Shachar Shani, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N Alcalay, Avi Orr-Urtreg |
| A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact. Pharmaceutics 2023 4 15 (4): . Rocio Nunez-Torres, Guillermo Pita, María Peña-Chilet, Daniel López-López, Jorge Zamora, Gema Roldán, Belén Herráez, Nuria Álvarez, María Rosario Alonso, Joaquín Dopazo, Anna Gonzalez-Nei |
| New insights into the epidemiology of Listeria monocytogenes - A cross-sectoral retrospective genomic analysis in the Netherlands (2010-2020). Frontiers in microbiology 2023 4 14 1147137. Claudia E Coipan, Ingrid H M Friesema, Angela H A M van Hoek, Tijs van den Bosch, Maaike van den Beld, Sjoerd Kuiling, Lapo Mughini Gras, Indra Bergval, Thijs Bosch, Bart Wullings, Menno van der Voort, Eelco Fra |
| Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
| Genetic Subdivisions of Follicular Lymphoma Defined by Distinct Coding and non-coding Mutation Patterns. Blood 2023 4 . Kostiantyn Dreval, Laura K Hilton, Manuela Cruz, Haya Shaalan, Susana Ben-Neriah, Merrill Boyle, Brett J Collinge, Krysta Mila Coyle, Gerben Duns, Pedro Farinha, Bruno Grande, Barbara Meissner, Prasath Pararajalingam, Christopher K Rushton, Graham W Slack, Jasper Chun Hei Wong, Andrew J Mungall, Marco A Marra, Joseph M Connors, Christian Steidl, David W Scott, Ryan D Mor |
| Comparing Genomic Landscapes of Oral and Cutaneous Squamous Cell Carcinoma of the Head and Neck: Quest for Novel Diagnostic Markers. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 4 100190. Ruta Gupta, Dario Strbenac, Laveniya Satgunaseelan, Veronica Ka-Yan Cheung, Harini Narayanappa, Bruce Ashford, Jenny Mitchell, Amarinder Thind, Carsten E Palme, Sydney Ch'ng, Tsu-Hui Hubert Low, James Wykes, Cali E Willet, Tracy Chew, Jean Yang, Marie Ranson, Jonathan R Cla |
| Discovery of SNP Molecular Markers and Candidate Genes Associated with Sacbrood Virus Resistance in Apis cerana cerana Larvae by Whole-Genome Resequencing. International journal of molecular sciences 2023 4 24 (7): . Hassanyar Aqai Kalan, Nie Hongyi, Li Zhiguo, Lin Yan, Huang Jingnan, Woldegiorgis Samuel Tareke, Hussain Mubasher, Feng Wangjiang, Zhang Zhaonan, Yu Kejun, Su Songk |
| Cohort profile: SUPER-Finland - the Finnish study for hereditary mechanisms of psychotic disorders. BMJ open 2023 4 13 (4): e070710. Lähteenvuo Markku, Ahola-Olli Ari, Suokas Kimmo, Holm Minna, Misiewicz Zuzanna, Jukuri Tuomas, Männynsalo Teemu, Wegelius Asko, Haaki Willehard, Kajanne Risto, Kyttälä Aija, Tuulio-Henriksson Annamari, Lahdensuo Kaisla, Häkkinen Katja, Hietala Jarmo, Paunio Tiina, Niemi-Pynttäri Jussi, Kieseppä Tuula, Veijola Juha, Lönnqvist Jouko, Isometsä Erkki, Kampman Olli, Tiihonen Jari, Hyman Steven, Neale Benjamin, Daly Mark, Suvisaari Jaana, Palotie Aar |
| Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
| Whole-genome sequencing identifies novel predictors for hematopoietic cell transplant outcomes for patients with myelodysplastic syndrome: a CIBMTR study. Journal of hematology & oncology 2023 4 16 (1): 37. Zhang Tao, Auer Paul, Dong Jing, Cutler Corey, Dezern Amy E, Gadalla Shahinaz M, Deeg H Joachim, Nazha Aziz, Carlson Karen-Sue, Spellman Stephen, Bolon Yung-Tsi, Saber Wa |
| The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. medRxiv : the preprint server for health sciences 2023 4 . Puckelwartz Megan J, Pesce Lorenzo L, Hernandez Edgar J, Webster Gregory, Dellefave-Castillo Lisa M, Russell Mark W, Geisler Sarah S, Kearns Samuel D, Etheridge Felix K, Etheridge Susan P, Monroe Tanner O, Pottinger Tess D, Kannankeril Prince J, Shoemaker M Benjamin, Fountain Darlene, Roden Dan M, MacLeod Heather, Burns Kristin M, Yandell Mark, Tristani-Firouzi Martin, George Alfred L, McNally Elizabeth |
| Rare genetic variants in SEC24D modify orofacial cleft phenotypes. medRxiv : the preprint server for health sciences 2023 4 . Curtis Sarah W, Carlson Jenna C, Beaty Terri H, Murray Jeffrey C, Weinberg Seth M, Marazita Mary L, Cotney Justin L, Cutler David J, Epstein Michael P, Leslie Elizabeth |
| DNA methylation age in paired tumor and adjacent normal breast tissue in Chinese women with breast cancer. Clinical epigenetics 2023 3 15 (1): 55. Koka Hela, Bodelon Clara, Horvath Steve, Lee Priscilla Ming Yi, Wang Difei, Song Lei, Zhang Tongwu, Hurson Amber N, Guida Jennifer Lyn, Zhu Bin, Bailey-Whyte Maeve, Wang Feng, Wu Cherry, Tsang Koon Ho, Tsoi Yee-Kei, Chan W C, Law Sze Hong, Hung Ray Ka Wai, Tse Gary M, Yuen Karen Ka-Wan, Karlins Eric, Jones Kristine, Vogt Aurelie, Zhu Bin, Hutchinson Amy, Hicks Belynda, Garcia-Closas Montserrat, Chanock Stephen, Barnholtz-Sloan Jill, Tse Lap Ah, Yang Xiaohong |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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