Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 4483 Records) |
Query Trace: Genetic testing[original query] |
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Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition. Dermatology practical & conceptual 2024 8 14 (3): . Giada Ferrara, Salvatore Paiella, Giulio Settanni, Melissa Frizziero, Paolo Rosina, Valeria Viasso |
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex. Neurogenetics 2024 8 . Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Ka |
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes. Journal of the Endocrine Society 2024 8 8 (9): bvae137. Mostafa Salama, Filippo Pinto E Vairo, Roland Hentz, Alaa Al Nofal, Sara Hassan, Samar H Ibrahim, Aida Lteif, Ana Creo, Siobhan Pittock, Seema Kum |
Cost-Effectiveness Analysis of Pharmacogenomics-Guided Versus Standard Dosing of Warfarin in Patients with Mechanical Prosthetic Heart Valve. Iranian journal of pharmaceutical research : IJPR 2024 8 23 (1): e143898. Homa Hemati, Marzieh Nosrati, Mandana Hasanzad, Parham Rahmani, Soroush Fariman, Mohadese Sarabi, Sepideh Shirvani, Parham Sadeghipour, Shekoufeh Nikf |
The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study. medRxiv : the preprint server for health sciences 2024 8 . Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa, Makito Hirano, Kenta Takahashi, Mikhail Kolmogolv, Kimberley J Billingsley, Manabu Funayama, Cornelis Blauwendraat, Nobutaka Hatto |
[Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis]. Zhonghua bing li xue za zhi = Chinese journal of pathology 2024 8 53 (8): 789-796. D H Wang, W L Yin, X Y Pan, M N Zhang, L Nie, X Q Chen, H Zeng, Q Zhou, N Ch |
[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 941-946. Xi Wang, Yaodong Zhang, Mengmeng Du, Haihua Yang, Xiaojing Liu, Mengqin Wang, Jiajia Chen, Yongxing Chen, Haiyan W |
High-proportion spliced-in titin truncating variants in African and European ancestry in the All of Us Research Program. Nature cardiovascular research 2024 8 3 (2): 140-144. Naman S Shetty, Akhil Pampana, Nirav Patel, Peng Li, Garima Arora, Pankaj Aro |
The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory. Cancer genomics & proteomics 2024 8 21 (5): 448-463. Nikolaos Tsoulos, Konstantinos Agiannitopoulos, Kevisa Potska, Anastasia Katseli, Christina Ntogka, Georgia Pepe, Dimitra Bouzarelou, Athanasios Papathanasiou, Dimitrios Grigoriadis, Georgios N Tsaousis, Helen Gogas, Theodore Troupis, Konstantinos Papazisis, Ioannis Natsiopoulos, Vassileios Venizelos, Kyriakos Amarantidis, Stylianos Giassas, Christos Papadimitriou, Elena Fountzilas, Maroulio Stathoulopoulou, Anna Koumarianou, Grigorios Xepapadakis, Alexandru Blidaru, Daniela Zob, Oana Voinea, Mustafa Özdo?an, Mahmut Çerkez Ergören, Alinta Hegmane, Eirini Papadopoulou, George Nasioulas, Christos Markopoul |
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of clinical investigation 2024 8 . Omid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, Catalin D Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T Ho, Horia C Stanescu, Detlef Bockenhauer, Richard N Sandford, Adam P Levine, Daniel P Ga |
Single Center Experience of Genetic Testing in Patients Undergoing Breast Cancer Treatment. Maedica 2024 8 19 (2): 239-246. Laura Mihaela Mustata, Gheorghe Peltecu, Diana Cezara Mugescu, Florina Mihaela Nedelea, Mircea Dragos Medi |
The Pathological Pattern of Breast Cancer in the Najran Region of Saudi Arabia: A Retrospective Study. Cureus 2024 8 16 (8): e67621. Abdulrahman M Alamri, Hajar H AlWadai, Saad M Almowallad, Saleh M AlKulayb, Zahra E Abdalwahab, Shuruq M Alzahuf, Saleh H Alshaib |
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort. Audiology & neuro-otology 2024 8 . Denise Yan, Aria Nawab, Molly Smeal, Xue-Zhong L |
Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population. NPJ digital medicine 2024 8 7 (1): 226. Joy Jiang, Ha My Thi Vy, Alexander Charney, Patricia Kovatch, Vivek Reddy, Pushkala Jayaraman, Ron Do, Rohan Khera, Sumeet Chugh, Deepak L Bhatt, Akhil Vaid, Joshua Lampert, Girish Nitin Nadkar |
A C->T Variation in 3'-Untranslated Region Elevates MED12 Protein Level in Breast Cancer That Relates to Better Prognosis. Genetic testing and molecular biomarkers 2024 8 . Jianbin Chen, Tairen Wang, Weina |
Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases. Frontiers in genetics 2024 8 15 1432670. Daigo Hiraya, Nobuyuki Murakoshi, Miyako Igarashi, DongZhu Xu, Tomoko Ishi |
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants. Journal of human genetics 2024 8 . Tomoya Kubota, Miho Nagata, Kazuko Takagi, Yasuki Ishihara, Kurumi Kojima, Yuka Uchikura, Reina Yamamoto, Ayumi Yonei, Erina Ozaki, Natsuki Kira, Satoe Takahashi, Kazuaki Homma, Yohei Miyashita, Minenori Eguchi-Ishimae, Norio Sakai, Yohihiro Asano, Yasushi Sakata, Keiichi Ozono, Mariko Eguchi, Masanori P Takahas |
Genetic background and intraoperative haemodynamic instability in patients with pheochromocytoma and paraganglioma: a multicenter retrospective study. International journal of surgery (London, England) 2024 8 . Minghao Li, Jing Zhang, Yingxian Pang, Yao He, Yanting Shen, Jing Wang, Xiaowen Xu, Jiahao Liu, Kai Cheng, Zhi Li, Yujun Liu, Xin Gao, Graeme Eisenhofer, Jingjing Jiang, Longfei L |
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome. Frontiers in genetics 2024 8 15 1419025. M Orlova, P Gundorova, V Kadnikova, A Polyak |
Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort. Journal of the Formosan Medical Association = Taiwan yi zhi 2024 8 . Grace Chia-Yen Hsu, Mei-Hwan Wu, Jing-Yuan Chuang, Shuenn-Nan Chiu, Ming-Tai Lin, Ling-Ping Lai, Shih-Fan Sherri Yeh, Sheng-Fu Liu, Ting-Tse Lin, Fu-Tien Chiang, Jyh-Ming Jimmy Juang, |
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology. BMC medical genomics 2024 8 17 (1): 214. Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-Min H |
The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods. Pathology oncology research : POR 2024 8 30 1611813. László Baráti, Anita Maász, Alexandra Mikó, Éva Bércesi, Sultan Al Kalbani, Judit Bene, Sebestyén Kovács, László Mangel, Kinga Hadzsi |
[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024 8 26 (8): 840-844. Min Wang, Tian-Ping Chen, Ao-Shuang Jiang, Ying-Hui Zhao, Cheng-Lin Zhu, Nan Wei, Yu-Ting Jin, Li-Jun |
Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report. Medicine 2024 8 103 (33): e39266. Yilun Tao, Zhipeng Hu, Dong Han, Wenxia Song, Lihong Wang, Haiwei Wang, Xiaoze |
E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant? European journal of pediatrics 2024 8 . Elham Orouk Awaad, Lana Khoury, Joeri W van Straalen, Adi Miller-Barmak, Tal Gazitt, Jumana Haddad-Haloun, Riva Brik, Mohamad Hamad Sai |
Genetic associations with human longevity are enriched for oncogenic genes. medRxiv : the preprint server for health sciences 2024 8 . Junyoung Park, Andrés Peña-Tauber, Lia Talozzi, Michael D Greicius, Yann Le Gu |
Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels. Frontiers in cardiovascular medicine 2024 8 11 1433042. Antti Jokiniitty, Markku Eskola, Saara Metso, Martin Bogsrud, Heini Huhtala, Tanja Saare |
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy. ESC heart failure 2024 8 . Milos Kubanek, Jana Binova, Lenka Piherova, Alice Krebsova, Martin Kotrc, Hana Hartmannova, Katerina Hodanova, Dita Musalkova, Viktor Stranecky, Tomas Palecek, Anna Chaloupka, Ilga Grochova, Jan Krejci, Jana Petrkova, Vojtech Melenovsky, Stanislav Kmoch, Josef Kautzn |
Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study. Diagnostics (Basel, Switzerland) 2024 8 14 (15): . Jaewon Kim, Jaewoong Lee, Myungshin Kim, Dae-Hyun Ja |
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