Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 158 Records) |
| Query Trace: Population screening[original query] |
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| Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank. PloS one 2021 9 16 (9): e0251469. Gafni Aviv, Dite Gillian S, Spaeth Tuff Erika, Allman Richard, Hopper John |
| Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. Journal of clinical medicine 2021 8 10 (16): . Reková Petra, Dostálová Gabriela, Kemlink David, Paulasová Schwabová Jaroslava, Dubská Zora, Vaneckova Manuela, Mašek Martin, Kodet Ond?ej, Poup?tová Helena, Mazurová Stella, Rajdova Aneta, Vlckova Eva, Tábo?íková Alena, Fafejtová Št?pánka, Nevsimalova Miroslava, Linhart Aleš, Tomek Al |
| Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. Genetics in medicine : official journal of the American College of Medical Genetics 2021 8 23 (12): 2300-2308. Schiabor Barrett Kelly M, Bolze Alexandre, Ni Yunyun, White Simon, Isaksson Magnus, Sharma Lavania, Levin Elissa, Lee William, Grzymski Joseph J, Lu James T, Washington Nicole L, Cirulli Elizabeth |
| Risk of colorectal adenomas and cancer in monoallelic carriers of MUTYH pathogenic variants: a single-centre experience. International journal of colorectal disease 2021 7 36 (10): 2199-2204. Patel R, McGinty P, Cuthill V, Hawkins M, Clark S K, Latchford |
| Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China. Hereditary cancer in clinical practice 2021 5 19 (1): 27. Zhang Min, Chen Tianh |
| A nait-associated and previously unreported mutation in the ITGB3 gene with a low frequency in the local population. Transfusion medicine (Oxford, England) 2021 3 31 (4): 286-291. Norrenbrock Stefan, Müller Thomas H, Mayer Christiane, Doescher Andr |
| Genetics of prostate cancer and its utility in treatment and screening. Advances in genetics 2021 11 108 147-199. Benafif S, Ni Raghallaigh H, McHugh J, Eeles |
| Genetic and non-genetic factors affecting hemoglobin A expression in a large cohort of Thai individuals: implication for population screening for thalassemia. American journal of translational research 2021 11 13 (10): 11632-11642. Singha Kritsada, Sanchaisuriya Kanokwan, Fucharoen Goonnapa, Fucharoen Sup |
| Genetic and clinical characteristics of BRCA-associated hereditary breast cancer in the West region of Kazakhstan. Carcinogenesis 2022 Aug . Aitmagambetova Marzhan A, Smagulova Gaziza A, Tuhvatshin Rustem R, Zheksenova Azhar N, Amanzholkyzy Ain |
| Thalassemia in Malaysia. Hemoglobin 2022 8 46 (1): 45-52. Alwi Zilfalil Bin, Syed-Hassan Sharifah-Nany Rahayu-Karmil |
| High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy. International journal of environmental research and public health 2022 7 19 (13): . Semeraro Daniela, Verrocchio Sara, Di Dalmazi Giulia, Rossi Claudia, Pieragostino Damiana, Cicalini Ilaria, Ferrante Rossella, Di Michele Silvia, Stuppia Liborio, Rizzo Cristiano, Lepri Francesca Romana, Novelli Antonio, Dionisi-Vici Carlo, De Laurenzi Vincenzo, Bucci In |
| Multiplex Epstein-Barr virus BALF2 genotyping detects high-risk variants in plasma for population screening of nasopharyngeal carcinoma. Molecular cancer 2022 07 21 (1): 154. Miller Jacob A, Sahoo Malaya K, Yamamoto Fumiko, Huang ChunHong, Wang Hannah, Zehnder James L, Le Quynh-Thu, Pinsky Benjamin |
| Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review. European journal of medical genetics 2022 3 65 (5): 104477. Pavlovica Kristine, Irmejs Arvids, Noukas Margit, Palover Marili, Kals Mart, Tonisson Neeme, Metspalu Andres, Gronwald Jacek, Lubinski Jan, Murmane Daiga, Kalnina Agnese, Loza Peteris, Maksimenko Jelena, Trofimovics Genadijs, Subatniece Signe, Daneberga Zanda, Miklasevics Edvins, Gardovskis Jan |
| Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews. Breast cancer research and treatment 2022 3 193 (1): 217-224. Lieberman S, Chen-Shtoyerman R, Levi Z, Shkedi-Rafid S, Zuckerman S, Bernstein-Molho R, Levi G Reznick, Shachar S S, Flugelman A, Libman V, Kedar I, Naftaly-Nathan S, Lagovsky I, Peretz T, Karminsky N, Carmi S, Levy-Lahad E, Goldberg |
| Long term ophthalmic complications of distal arthrogryposis type 5D. Ophthalmic genetics 2022 12 44 (1): 28-34. Cohen Dana, Sloma Ronen, Pizem Hadas, Fedida Ayalla, Kalfon Limor, Ovadia Relli, Segal Zvi, Kassif Yanir, Falik Zaccai Tzip |
| Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2022 12 44 (1): 16-20. Sharma Rahul K, Drusin Madeleine, Hostyk Joseph, Baugh Evan H, Aggarwal Vimla S, Goldstein David, Kim Ana |
| Overview on population screening for carriers with germline BRCA mutation in China. Frontiers in oncology 2022 11 12 1002360. Lei Huijun, Zhang Min, Zhang Luyao, Hemminki Kari, Wang Xiao-Jia, Chen Tianh |
| Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis. HGG advances 2022 1 1 (1): 100010. Jarvik Gail P, Wang Xiaoliang, Fontanillas Pierre, Kim Esther, Chanprasert Sirisak, Gordon Adam S, Bastarache Lisa, Kowdley Kris V, Harrison Tabitha, Rosenthal Elisabeth A, Stanaway Ian B, Bézieau Stéphane, Weinstein Stephanie J, Newcomb Polly A, Casey Graham, Platz Elizabeth A, Visvanathan Kala, Le Marchand Loic, Ulrich Cornelia M, Hardikar Sheetal, Li Christopher I, van Duijnhoven Franzel J B, Gsur Andrea, Campbell Peter T, Moreno Victor, Vodi?ka Pavel, Brenner Hermann, Chang-Claude Jenny, Hoffmeister Michael, Slattery Martha L, Gunter Marc J, Aglago Elom K, Castellví-Bel Sergi, Kweon Sun-Seog, Chan Andrew T, Li Li, Zheng Wei, Bishop D Timothy, Giles Graham G, Rennert Gad, Offit Kenneth, Keku Temitope O, Woods Michael O, Hampe Jochen, Van Guelpen Bethan, Gallinger Steven J, de la Chapelle Albert, Hampel Heather, Berndt Sonja I, Tangen Catherine M, Lindblom Annika, Wolk Alicja, Burnett-Hartman Andrea, Wu Anna H, White Emily, , Gruber Stephen B, Jenkins Mark A, Mountain Joanna, Peters Ulrike, Crosslin David |
| Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
| Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China. Human genomics 2023 8 17 (1): 77. Tong Yang, Xuemei Luo, Yanqiu Liu, Min Lin, Qinfei Zhao, Wenqian Zhang, Zhigang Chen, Minghua Dong, Junli Wang, Qi Wang, Xiaokang Zhang, Tianyu Zho |
| [GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN]. Harefuah 2023 7 162 (6): 370-375. Rachel Michaelson-Cohen, Yael Laitman, Inbal Kedar, Hagit Baris-Feldman, Orit Reish, Sari Lieberman, Rinat Bernstein-Molho, Yael Goldberg, Gili Reznick Levi, Ruth Gershoni, Uzi Beller, Ephrat Levy-Lahad, Raphael Catan, Eitan Friedm |
| Assessment of genotoxic instability markers in peripheral blood lymphocytes of breast cancer patients: a case control study. Journal of biomolecular structure & dynamics 2023 5 1-5. Smitha G Raj, V Rajit |
| Dopamine receptor D2 genetic polymorphism associated with transition to mental disorders in a cohort of individuals with at-risk mental state for psychosis. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2023 4 . Marques Julia Hatagami, Talib Leda Leme, Hortêncio Lucas, Andrade Julio Cesar, Alves Tania Maria, Serpa Mauricio Henriques, Yamamoto Guilherme Lopes, van de Bilt Martinus Theodorus, Rössler Wulf, Gattaz Wagner Farid, Loch Alexandre Andra |
| Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians. European journal of human genetics : EJHG 2023 3 . Kerr Shona M, Cowan Emma, Klaric Lucija, Bell Christine, O'Sullivan Dawn, Buchanan David, Grzymski Joseph J, van Hout Cristopher V, Tzoneva Gannie, Shuldiner Alan R, Wilson James F, Miedzybrodzka Zos |
| Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants. Genome medicine 2023 3 15 (1): 17. Stoltze Ulrik Kristoffer, Hagen Christian Munch, van Overeem Hansen Thomas, Byrjalsen Anna, Gerdes Anne-Marie, Yakimov Victor, Rasmussen Simon, Bækvad-Hansen Marie, Hougaard David Michael, Schmiegelow Kjeld, Hjalgrim Henrik, Wadt Karin, Bybjerg-Grauholm Jon |
| Early Diagnostic Markers for Esophageal Squamous Cell Carcinoma: CNA Gene Identification and cfDNA Detection. Laboratory investigation; a journal of technical methods and pathology 2024 8 102127. Jiamin Chen, Xi Liu, Zhihua Zhang, Ruibing Su, Yiqun Geng, Yi Guo, Yimin Zhang, Min |
| Unprocessed snRNAs Are a Prognostic Biomarker and Correlate with a Poorer Prognosis in Colorectal Cancer. Cancers 2024 7 16 (13): . Víctor Escrich, Cristina Romero-Aranda, Rosario López, María de Toro, Ángela Metola, Begoña Ezcurra, Eva Gómez-Orte, Juan Cabel |
| Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease. Parkinsonism & related disorders 2024 6 124 107023. Massimo Marano, Carmela Zizzo, Maria Chiara Malaguti, Ruggero Bacchin, Francesco Cavallieri, Rosa De Micco, Francesca Spagnolo, Anna Rita Bentivoglio, Tommaso Schirinzi, Roberta Bovenzi, Silvia Ramat, Roberto Erro, Cristiano Sorrentino, Patrizia Sucapane, Andrea Pilotto, Alessandro Lupini, Alessandro Magliozzi, Ilaria Di Vico, Miryam Carecchio, Giulia Bonato, Roberto Cilia, Fabiana Colucci, Filippo Tamma, Elena Caputo, Giovanni Mostile, Gennarina Arabia, Nicola Modugno, Maurizio Zibetti, Maria Gabriella Ceravolo, Nicola Tambasco, Giovanni Cossu, Franco Valzania, Paolo Manganotti, Vincenzo Di Lazzaro, Mario Zappia, Giovanni Fabbrini, Michele Tinazzi, Alessandro Tessitore, Giovanni Duro, Alessio Di Fon |
| Meta-analysis of Epstein-Barr virus genomes in Southern Chinese identifies genetic variants and high risk viral lineage associated with nasopharyngeal carcinoma. PLoS pathogens 2024 5 20 (5): e1012263. Ka Wo Wong, Kwai Fung Hui, Ki Pui Lam, Dora Lai-Wan Kwong, Maria Li Lung, Wanling Yang, Alan K S Chia |
| Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort. European journal of human genetics : EJHG 2024 5 . Sophia Hammer-Hansen, Ulrik Stoltze, Emil Bartels, Thomas van Overeem Hansen, Anna Byrjalsen, Anne Tybjærg-Hansen, Klaus Juul, Kjeld Schmiegelow, Jacob Tfelt, Henning Bundgaard, Karin Wadt, Birgitte Rode Dine |
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