Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 866 Records) |
| Query Trace: Genomic medicine[original query] |
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| RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape. Genes 2024 9 15 (9): . Giulia Trastulli, Domenica Megalizzi, Giulia Calvino, Sarah Andreucci, Stefania Zampatti, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascel |
| Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank. NPJ genomic medicine 2024 9 9 (1): 43. Thomas J Dinneen, Fiana Ní Ghrálaigh, Cathal Ormond, Elizabeth A Heron, George Kirov, Lorna M Lopez, Louise Gallagh |
| The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation. Molecular genetics & genomic medicine 2024 9 12 (9): e2495. Purevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, Ki-Young Yoo, Enkh-Amar Ayush, Ochbadrakh Batjargal, Erdenebayar Namjil, Sarantuya Jav, Erkhembulgan Purevdorj, Sodnomtsogt Lkhagvasur |
| NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke. Nature communications 2024 9 15 (1): 8029. Juan Lorenzo Rodriguez-Flores, Shareef Khalid, Neelroop Parikshak, Asif Rasheed, Bin Ye, Manav Kapoor, Joshua Backman, Farshid Sepehrband, Silvio Alessandro Di Gioia, Sahar Gelfman, Tanima De, Nilanjana Banerjee, Deepika Sharma, Hector Martinez, Sofia Castaneda, David D'Ambrosio, Xingmin A Zhang, Pengcheng Xun, Ellen Tsai, I-Chun Tsai, , Maleeha Zaman Khan, Muhammad Jahanzaib, Muhammad Rehan Mian, Muhammad Bilal Liaqat, Khalid Mahmood, Tanvir Us Salam, Muhammad Hussain, Javed Iqbal, Faizan Aslam, Michael N Cantor, Gannie Tzoneva, John Overton, Jonathan Marchini, Jeffrey G Reid, Aris Baras, Niek Verweij, Luca A Lotta, Giovanni Coppola, Katia Karalis, Aris Economides, Sergio Fazio, Wolfgang Liedtke, John Danesh, Ayeesha Kamal, Philippe Frossard, Thomas Coleman, Alan R Shuldiner, Danish Salehe |
| APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males. Molecular genetics & genomic medicine 2024 8 12 (8): e2449. Jaroslav A Hubacek, Vera Adamkova, Vera Lanska, Vladimir Stanek, Jolana Mrazkova, Marie Gebauerova, Jiri Kettner, Josef Kautzner, Jan Pit |
| Association between MAPK and PI3K/Akt signaling pathway-related gene polymorphisms and migraine. Molecular genetics & genomic medicine 2024 8 12 (8): e2503. Mingxue Wang, Yujia Gu, Shuhan Meng, Lixin Kang, Jing Yang, Degang Sun, Yuxing Liu, Ze Wan, Yi Shan, Dongjie Xue, Chang Su, Shufen Li, RanYan, Yu Liu, Yonghui Pan, Yashuang Zh |
| Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation. Molecular genetics & genomic medicine 2024 7 12 (7): e2482. Dongming Han, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wa |
| Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease. Molecular genetics & genomic medicine 2024 7 12 (7): e2480. Valentina Martinez-Montoya, Luz María Sánchez-Sánchez, Roberto Sandoval-Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano-Valdez, Carmen Amor Ávila-Rejón, Pedro Alejandro Aguilar-Juárez, Martín Espino-Pluma, Cruz Antonio González-Santillanes, Rosa Isela Martínez-Segovia, Dorian Olmos-Morfin, Ofelia Padilla-De la Torre, Ishar Solís-Sánchez, Mónica Vázquez-Del Mercado Espinosa, Camilo Ernesto Villarroel-Cortés, Jesús Salvador Velarde-Félix, Jaime López-Valdez, Julio Olaiz-Urbina, Edgar Ricárdez-Marcial, Imelda Vergara-Sánchez, Pablo Radillo-Díaz, Ekaterina Kazakova, Beatriz De la Fuente-Cortez, Luz Del Carmen Marquez-Quiróz, Benjamín Torres-Octavo, Rubicel Diaz-Martin |
| Prospective of Mitochondrial DNA Variations in Cancer on Genomic Medicine. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2024 6 33 (6): 766-768. Mulong |
| Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study. NPJ genomic medicine 2024 6 9 (1): 36. Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D Spector, Pirro G Hysi, Khalid A Fakhro, Mario Falc |
| Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy. Molecular genetics & genomic medicine 2024 6 12 (6): e2470. Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, |
| Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates. NPJ genomic medicine 2024 5 9 (1): 30. Jane W Liang, Kurt D Christensen, Robert C Green, Peter Kra |
| 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 |
| Identification and validation of a novel anoikis-related prognostic model for prostate cancer. Molecular genetics & genomic medicine 2024 4 12 (4): e2419. Peipei Zhang, Wenzhi Lv, Yang Luan, Wei Cai, Xiangde Min, Zhaoyan Fe |
| Mother's smoking habits affects IL10 methylation but not asthma in Ecuadorian children. Molecular genetics & genomic medicine 2024 4 12 (4): e2438. Cristina Ochoa-Avilés, Angélica Ochoa-Avilés, Roque Rivas-Párraga, Samuel Escandón, Talita Dos Santos-Jesus, Milca de J Silva, Valderiene Leão, Marco Salinas, Yosselin Vicuña, Lucy Baldeón, María José Molina-Cando, Diana Morillo, Marcos Machuca, Claudia Rodas, Camila Figueiredo, Vivian Alejandra Nei |
| Association of a genetic variant in angiopoietin-like 3 with serum HDL-C and risk of cardiovascular disease: A study of the MASHAD cohort over 6?years. Molecular genetics & genomic medicine 2024 4 12 (4): e2418. Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan-Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri-Moghaddam, Majid Ghayour-Mobarh |
| Efficient reinterpretation of rare disease cases using Exomiser. NPJ genomic medicine 2024 12 9 (1): 65. Letizia Vestito, Julius O B Jacobsen, Susan Walker, Valentina Cipriani, Nomi L Harris, Melissa A Haendel, Christopher J Mungall, Peter Robinson, Damian Smedl |
| Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology. NPJ genomic medicine 2024 12 9 (1): 67. Simone Montalbano, Morten Dybdahl Krebs, Anders Rosengren, Morteza Vaez, Kajsa-Lotta Georgii Hellberg, Preben B Mortensen, Anders D Børglum, Daniel H Geschwind, , Armin Raznahan, Wesley K Thompson, Dorte Helenius, Thomas Werge, Andrés Ingas |
| Alternative splicing is coupled to gene expression in a subset of variably expressed genes. NPJ genomic medicine 2024 11 9 (1): 54. Guy Karlebach, Robin Steinhaus, Daniel Danis, Maeva Devoucoux, Olga Anczuków, Gloria Sheynkman, Dominik Seelow, Peter N Robins |
| Efficacy and Tolerability of Olaparib Plus Paclitaxel in Patients with Gastric Cancer Associated with Hereditary Breast and Ovarian Cancer. Current oncology (Toronto, Ont.) 2024 11 31 (11): 6723-6734. Takuma Hayashi, Kenji Sano, Mako Okada, Manabu Muto, Ikuo Konis |
| Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases. NPJ genomic medicine 2024 11 9 (1): 61. Achille Vc Manirakiza, Shakuntala Baichoo, Annette Uwineza, Damas Dukundane, Francois Uwinkindi, Edouard Ngendahayo, Fidel Rubagumya, Emmanuel Muhawenimana, Nicaise Nsabimana, Innocent Nzeyimana, Theoneste Maniragaba, Faustin Ntirenganya, Ephrem Rurangwa, Pacifique Mugenzi, Janviere Mutamuliza, Daniel Runanira, Brandon A Niyibizi, Eulade Rugengamanzi, Jeffrey Besada, Sarah M Nielsen, Brianna Bucknor, Robert L Nussbaum, Diane Koeller, Caroline Andrews, Leon Mutesa, Temidayo Fadelu, Timothy R Rebbe |
| ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia. Molecular genetics & genomic medicine 2024 11 12 (11): e70021. Xin Li, Jia Bao, Liya Ai, Fan-Rui Yang, Bo Yu, Yan-Ping Huang, Na Li, Wen-Yuan Ding, Zhi-Qiang Sun, Xin-Xiang Lv, Jian-Wen H |
| Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders. NPJ genomic medicine 2024 10 9 (1): 52. Junho Lee, Shin Ju Oh, Eunji Ha, Ga Young Shin, Hyo Jong Kim, Kwangwoo Kim, Chang Kyun L |
| Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Molecular genetics & genomic medicine 2024 1 12 (1): e2342. Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Maria Mudau, Engela Honey, Zane Lombard, Amanda Krause, Nadia Carste |
| Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. Molecular genetics & genomic medicine 2024 1 12 (1): e2360. Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinima |
| Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy. Molecular genetics & genomic medicine 2024 1 12 (1): e2355. Xue Gao, Shuchao Pang, Liangcai Ding, Han Yan, Yinghua Cui, Bo Y |
| Newly discovered variants in unexplained neonatal encephalopathy. Molecular genetics & genomic medicine 2024 1 12 (1): e2354. Rong Zhang, Jingjing Xie, Xiao Yuan, Yan Yu, Yan Zhuang, Fan Zhang, Jianfei Hou, Yanqin Liu, Weiqing Huang, Min Zhang, Junshuai Li, Qiang Gong, Xiaoming Pe |
| Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 2024 1 9 (1): 6. Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Jihong |
| Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet journal of rare diseases 2024 1 19 (1): 15. Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W Taylor, Krutik Patel, Mahmoud R Fassad, Jana Vandrovcova, , Ronald J A Wanders, Francois H van der Westhuiz |
| A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report. Molecular genetics & genomic medicine 2025 1 13 (1): e70051. Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr-Esfahani, Maria Vittoria Cubell |
- Page last reviewed:Feb 1, 2024
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