From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
| Protocol to Improve Genotyping of Non-Small-Cell Lung Cancer Diagnosed Using EBUS-TBNA. Southern medical journal 2018 Oct 111 (10): 601-606. Bellinger Christina R, Sharma Deepankar, Dotson Travis, Ruiz Jimmy, Parks Graham, Haponik Edward  |
| Using clinical and genetic data to predict pulmonary hypertension in bronchopulmonary dysplasia. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep . Trittmann J K, Bartenschlag A, Zmuda E J, Frick J, Stewart W C L, Nelin L |
| CYP2D6 allele frequencies, copy number variants, and tandems in the population of Hong Kong. Journal of clinical laboratory analysis 2018 Aug e22634. Chan Wing, Li Man S, Sundaram Senthil K, Tomlinson Brian, Cheung Pik Y, Tzang Chi |
| Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G  |
| Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome. Journal of the National Cancer Institute 2018 Jun . Fischer Nicholas W, Prodeus Aaron, Tran James, Malkin David, Gariépy Je |
| SLCO1B1 c.521T>C Genotyping in the Austrian Population Using 2 Commercial Real-Time Polymerase Chain Reaction Assays: An Implementation Study. Pharmacology 2018 Jun 102 (1-2): 88-90. Enko Dietmar, Harringer Sophia, Oberkanins Christian, Pühringer Helene, Halwachs-Baumann Gabriele, Kriegshäuser Gern |
| Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue. The Journal of molecular diagnostics : JMD 2018 Jun . de Jonge Marthe M, Ruano Dina, van Eijk Ronald, van der Stoep Nienke, Nielsen Maartje, Wijnen Juul T, Ter Haar Natalja T, Baalbergen Astrid, Bos Monique E M M, Kagie Marjolein J, Vreeswijk Maaike P G, Gaarenstroom Katja N, Kroep Judith R, Smit Vincent T H B M, Bosse Tjalling, van Wezel Tom, van Asperen Christi  |
| Cell Line Controls for the Genotyping of a Spectrum of Human Single Nucleotide Polymorphisms in the Clinical Laboratory. Clinical laboratory 2018 May 64 (5): 823-834. Kimbacher Christine, Paar Christian, Freystetter Andrea, Berg Joe |
| Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma. Cancer research and treatment : official journal of Korean Cancer Association 2018 May . Lim Sun Min, Cho Sang Hee, Hwang In Gyu, Choi Jae Woo, Chang Hyun, Ahn Myung-Ju, Park Keon Uk, Kim Ji-Won, Ko Yoon Ho, Ahn Hee Kyung, Cho Byoung Chul, Nam Byung-Ho, Chun Sang Hoon, Hong Ji Hyung, Kwon Jung Hye, Choi Jong Gwon, Kang Eun Joo, Yun Tak, Lee Keun-Wook, Kim Joo-Hang, Kim Jin Soo, Lee Hyun Woo, Kim Min Kyoung, Jung Dongmin, Kim Ji Eun, Keam Bhumsuk, Yun Hwan Jung, Kim Sangwoo, Kim Hye Ry |
| SNPs in predicting clinical efficacy and toxicity of chemotherapy: walking through the quicksand. Oncotarget 2018 May 9 (38): 25355-25382. Palmirotta Raffaele, Carella Claudia, Silvestris Erica, Cives Mauro, Stucci Stefania Luigia, Tucci Marco, Lovero Domenica, Silvestris Fran |
| Clinical Outcomes and Sustainability of Using CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention. Circulation. Genomic and precision medicine 2018 Apr 11 (4): e002069. Lee Craig R, Sriramoju Vindhya B, Cervantes Alexandra, Howell Lucius A, Varunok Nicholas, Madan Shivanshu, Hamrick Kasey, Polasek Melissa J, Lee John Andrew, Clarke Megan, Cicci Jonathan D, Weck Karen E, Stouffer George  |
| Prevalence of integrase strand transfer inhibitors (InSTIs) resistance mutations in InSTIs-naive and -experienced HIV-1 infected patients: a single Center experience. AIDS research and human retroviruses 2018 Apr . De Francesco Maria Antonia, Izzo Ilaria, Properzi Martina, Gargiulo Franco, Caccuri Francesca, Quiros-Roldan Eugenia, Castelli Francesco, Caruso Arnaldo, Foca' Emanue |
| Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clinical pharmacology and therapeutics 2018 Feb . Phillips Elizabeth J, Sukasem Chonlaphat, Whirl-Carrillo Michelle, Müller Daniel J, Dunnenberger Henry M, Chantratita Wasun, Goldspiel Barry, Chen Yuan-Tsong, Carleton Bruce C, George Alfred L, Mushiroda Taisei, Klein Teri, Gammal Roseann S, Pirmohamed Mun  |
| BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. Breast cancer research and treatment 2018 Jan . Jakimovska Milena, Maleva Kostovska Ivana, Popovska-Jankovic Katerina, Kubelka-Sabit Katerina, Karadjozov Mitko, Stojanovska Liljana, Arsovski Andreja, Smichkoska Snezhana, Lazarova Emilija, Jakimovska Dimitrovska Maja, Plaseska-Karanfilska Dija |
| BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study. PloS one 2018 13 (7): e0201086. Kowalik Artur, Sio?ek Monika, Kopczy?ski Janusz, Krawiec Kamila, Kalisz Joanna, Zi?ba Sebastian, Kozak-Klonowska Beata, Wypiórkiewicz El?bieta, Furma?czyk Jowita, Nowak-Ozimek Ewelina, Ch?opek Ma?gorzata, Macek Pawe?, Smok-Kalwat Jolanta, Gó?d? Stanis? |
| Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas. Pathology oncology research : POR 2017 Dec . Schneider Bjoern, Riedel Katrin, Zhivov Andrey, Huehns Maja, Zettl Heike, Guthoff Rudolf F, Jünemann Anselm, Erbersdobler Andreas, Zimpfer Annet |
| Influence of polymorphic variants of the SLC6A4 gene on the frequency of detection of depressive states in the group of the clean up workers of consequences of Chornobyl accident in the remote period after the Chornobyl catastrophe. Problemy radiatsiinoi medytsyny ta radiobiolohii 2017 Dec 22 282-291. Abramenko I V, Bilous N I, Chumak S A, Loganovsky K |
| Pharmacogenetics predictors of methylphenidate efficacy in childhood ADHD. Molecular psychiatry 2017 Dec . Myer N M, Boland J R, Faraone S |
| Genetic Polymorphisms of Cytochrome P450 Enzymes and Transport Proteins in a Russian Population and Three Ethnic Groups of Dagestan. Genetic testing and molecular biomarkers 2017 Oct . Mirzaev Karin B, Sychev Dmitry A, Ryzhikova Kristina A, Konova Olga D, Mammaev Suleiman N, Gafurov Daniyal M, Shuev Grigorij N, Grishina Elena A, Sozaeva Zhannet |
| Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica 2017 Sep . Borràs Nina, Batlle Javier, Pérez-Rodríguez Almudena, López-Fernández María Fernanda, Rodríguez-Trillo Ángela, Lourés Esther, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Parra Rafael, Mingot-Castellano María Eva, Balda Ignacia, Altisent Carme, Pérez-Montes Rocío, Fisac Rosa María, Iruín Gemma, Herrero Sonia, Soto Inmaculada, de Rueda Beatriz, Jimimenez-Yuste Victor, Alonso Nieves, Vilariño Dolores, Arija Olga, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Sarmiento Lizheidy, Iñigo Belén, Nieto María Del Mar, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, César Jesús María, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Cornudella Rosa, Aguilar Carlos, Vidal Francisco, Corrales Ire |
| Genetic variants in 5p13.2 and 7q21.1 are associated with treatment for benign prostatic hyperplasia with the ?-adrenergic receptor antagonist. The aging male : the official journal of the International Society for the Study of the Aging Male 2017 Aug 1-7. Qian Xiaoqiang, Xu Ding, Liu Hailong, Lin Xiaoling, Yu Yongjiang, Kang Jian, Sheng Xujun, Xu Jianfeng, Zheng Siqun, Xu Danfeng, Qi J |
| Polymorphisms associated with etanercept response in moderate-to-severe plaque psoriasis. Pharmacogenomics 2017 May . Ovejero-Benito María C, Prieto-Pérez Rocío, Llamas-Velasco Mar, Belmonte Carmen, Cabaleiro Teresa, Román Manuel, Ochoa Dolores, Talegón María, Saiz-Rodríguez Miriam, Daudén Esteban, Abad-Santos Francis |
| Study of Preanalytic and Analytic Variables for Clinical Next-Generation Sequencing of Circulating Cell-Free Nucleic Acid. The Journal of molecular diagnostics : JMD 2017 May . Mehrotra Meenakshi, Singh Rajesh R, Chen Wei, Huang Richard S P, Almohammedsalim Alaa A, Barkoh Bedia A, Simien Crystal M, Hernandez Marcos, Behrens Carmen, Patel Keyur P, Routbort Mark J, Broaddus Russell R, Medeiros L Jeffrey, Wistuba Ignacio I, Kopetz Scott, Luthra Rajyalaksh  |
| The effects of inherited NUDT15 polymorphisms on thiopurine active metabolites in Japanese children with acute lymphoblastic leukemia. Pharmacogenetics and genomics 2017 Apr . Moriyama Takaya, Nishii Rina, Lin Ting-Nien, Kihira Kentaro, Toyoda Hidemi, Jacob Nersting, Kato Motohiro, Koh Katsuyoshi, Inaba Hiroto, Manabe Atsushi, Schmiegelow Kjeld, Yang Jun J, Hori Hiro |
| Identification of new SNPs associated with severe toxicity to capecitabine. Pharmacological research 2017 Mar 120 133-137. Pellicer Marta, García-González Xandra, García María I, Robles Luis, Grávalos Cristina, García-Alfonso Pilar, Pachón Vanessa, Longo Federico, Martínez Virginia, Blanco Carolina, Iglesias Irene, Sanjurjo María, López-Fernández Luis  |
| Limited impact of intratumour heterogeneity on molecular risk assignment in endometrial cancer. Oncotarget 2017 Mar . van Esterik Manouk, Van Gool Inge C, de Kroon Cor D, Nout Remi A, Creutzberg Carien L, Smit Vincent T H B M, Bosse Tjalling, Stelloo Ell |
| Role of ApoB-516C/T promoter gene polymorphism in the risk of Hepatitis C virus infection in Egyptian patients and in gender susceptibility. Journal of medical virology 2017 Mar . Khalifa Rania H, Labib Dalia A, Kamel Mohamed A, Shahin Rasha Mohamad Hosny, Bahgat Dina M Rasheed, Riad Nermine Magdi, El Khateeb Engy, El-Deeb Amr M, Hassan Mar |
| Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro-oncology 2017 Jan . Ramkissoon Shakti H, Bandopadhayay Pratiti, Hwang Jaeho, Ramkissoon Lori A, Greenwald Noah F, Schumacher Steven E, O'Rourke Ryan, Pinches Nathan, Ho Patricia, Malkin Hayley, Sinai Claire, Filbin Mariella, Plant Ashley, Bi Wenya Linda, Chang Michael S, Yang Edward, Wright Karen D, Manley Peter E, Ducar Matthew, Alexandrescu Sanda, Lidov Hart, Delalle Ivana, Goumnerova Liliana C, Church Alanna J, Janeway Katherine A, Harris Marian H, MacConaill Laura E, Folkerth Rebecca D, Lindeman Neal I, Stiles Charles D, Kieran Mark W, Ligon Azra H, Santagata Sandro, Dubuc Adrian M, Chi Susan N, Beroukhim Rameen, Ligon Keith  |
| Analysis of Genetic Variation in CYP450 Genes for Clinical Implementation. PloS one 2017 12 (1): e0169233. Goh Liuh Ling, Lim Chia Wei, Sim Wey Cheng, Toh Li Xian, Leong Khai Pa |
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.  PloS one 2017 12 (1): e0167742. de Vries Paul S, Sabater-Lleal Maria, Chasman Daniel I, Trompet Stella, Ahluwalia Tarunveer S, Teumer Alexander, Kleber Marcus E, Chen Ming-Huei, Wang Jie Jin, Attia John R, Marioni Riccardo E, Steri Maristella, Weng Lu-Chen, Pool Rene, Grossmann Vera, Brody Jennifer A, Venturini Cristina, Tanaka Toshiko, Rose Lynda M, Oldmeadow Christopher, Mazur Johanna, Basu Saonli, Frånberg Mattias, Yang Qiong, Ligthart Symen, Hottenga Jouke J, Rumley Ann, Mulas Antonella, de Craen Anton J M, Grotevendt Anne, Taylor Kent D, Delgado Graciela E, Kifley Annette, Lopez Lorna M, Berentzen Tina L, Mangino Massimo, Bandinelli Stefania, Morrison Alanna C, Hamsten Anders, Tofler Geoffrey, de Maat Moniek P M, Draisma Harmen H M, Lowe Gordon D, Zoledziewska Magdalena, Sattar Naveed, Lackner Karl J, Völker Uwe, McKnight Barbara, Huang Jie, Holliday Elizabeth G, McEvoy Mark A, Starr John M, Hysi Pirro G, Hernandez Dena G, Guan Weihua, Rivadeneira Fernando, McArdle Wendy L, Slagboom P Eline, Zeller Tanja, Psaty Bruce M, Uitterlinden André G, de Geus Eco J C, Stott David J, Binder Harald, Hofman Albert, Franco Oscar H, Rotter Jerome I, Ferrucci Luigi, Spector Tim D, Deary Ian J, März Winfried, Greinacher Andreas, Wild Philipp S, Cucca Francesco, Boomsma Dorret I, Watkins Hugh, Tang Weihong, Ridker Paul M, Jukema Jan W, Scott Rodney J, Mitchell Paul, Hansen Torben, O'Donnell Christopher J, Smith Nicholas L, Strachan David P, Dehghan Abb  |
| KRAS detection on archival cytological smears by the novel fully automated polymerase chain reaction-based Idylla mutation test. CytoJournal 2017 14 5. De Luca Caterina, Vigliar Elena, d'Anna Melania, Pisapia Pasquale, Bellevicine Claudio, Malapelle Umberto, Troncone Giancar |
| Genetic risk score based on the prevalence of vertebral fracture in Japanese women with osteoporosis. Bone reports 2016 Dec 5 168-172. Zhou Heying, Mori Seijiro, Ishizaki Tatsuro, Takahashi Atsushi, Matsuda Koichi, Koretsune Yukihiro, Minami Shiro, Higashiyama Masahiko, Imai Shinji, Yoshimori Kozo, Doita Minoru, Yamada Akira, Nagayama Satoshi, Kaneko Kazuo, Asai Satoshi, Shiono Masaki, Kubo Michiaki, Ito Hide |
| Anticoagulation endpoints with clinical implementation of warfarin pharmacogenetic dosing in a real-world setting: A proposal for a new pharmacogenetic dosing approach. Clinical pharmacology and therapeutics 2016 Nov . Arwood M J, Deng J, Drozda K, Pugach O, Nutescu E A, Schmidt S, Duarte J D, Cavallari L |
| Chronic hepatitis C virus infection in India: Regional demographics and distribution of viral genotypes. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2016 Nov 35 (6): 469-477. Shah Samir R, Rao P N, Sarin Shiv K, Chowdhury Abhijit, Bhatia Shobna, Dharamsi Rajesh, Goswami B D, Kapoor Dharmesh, Luaia Rosang, Mehta Rajiv, Mukewar Shrikant, Prasad V G Mohan, Rai Ramesh Roop, Saigal Sanjiv, Singh Devendra, Trehanpati Nirupama, Chen Sandra, Gaggar Anuj, Knox Steven J, Subramanian G Mani, Singh Shivaram Prasad, Sood Ajit, Varghese Joy, Venugopal Raj Vig |
| Desensitization to Oxcarbazepine: Long-Term Efficacy and Tolerability. Journal of clinical neurology (Seoul, Korea) 2016 Oct . Lee Jiwon, Park Eu Gene, Lee Munhyang, Lee Jeeh |
| Disrupted Brain Structural Connectivity: Pathological Interactions Between Genetic APOE ?4 Status and Developed MCI Condition. Molecular neurobiology 2016 Oct . Ma Chao, Wang Jun, Zhang Junying, Chen Kewei, Li Xin, Shu Ni, Chen Yaojing, Liu Zhen, Zhang Zhanj  |
| Differential Expression of miR-4520a Associated with Pyrin Mutations Suggesting a Role of Autophagy in Familial Mediterranean Fever (FMF). Journal of cellular physiology 2016 Sep . Latsoudis H, Mashreghi M-F, Grün J R, Chang H-D, Stuhlmueller B, Repa A, Gergiannaki I, Kabouraki E, Haeupl T, Radbruch A, Sidiropoulos P, Kardassis D, Boumpas D T, Goulielmos G |
| Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. Journal of genetics 2016 Sep 95 (3): 667-74. Beheshtian Maryam, Izadi Nasim, Kriegshauser Gernot, Kahrizi Kimia, Mehr Elham Parsi, Rostami Maryam, Hosseini Masoumeh, Azad Maryam, Montajabiniat Mona, Kariminejad Ariana, Nemeth Stefan, Oberkanins Christian, Najmabadi Hosse |
| Clues toward precision medicine in oral squamous cell carcinoma: utility of next-generation sequencing for the prognostic stratification of high-risk patients harboring neck lymph node extracapsular extension. Oncotarget 2016 Aug . Wang Hung-Ming, Liao Chun-Ta, Yen Tzu-Chen, Chen Shu-Jen, Lee Li-Yu, Hsieh Chia-Hsun, Lin Chien-Yu, Ng Shu-Ha |
| Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. Breast cancer research and treatment 2016 Aug . Pinto Pedro, Paulo Paula, Santos Catarina, Rocha Patrícia, Pinto Carla, Veiga Isabel, Pinheiro Manuela, Peixoto Ana, Teixeira Manuel |
| Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. The Journal of molecular diagnostics : JMD 2016 Jul . Schenkel Laila C, Kerkhof Jennifer, Stuart Alan, Reilly Jack, Eng Barry, Woodside Crystal, Levstik Alexander, Howlett Christopher J, Rupar Anthony C, Knoll Joan H M, Ainsworth Peter, Waye John S, Sadikovic Bek  |
| Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
| Prediction of CYP2D6 phenotype from genotype across world populations. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul . Gaedigk Andrea, Sangkuhl Katrin, Whirl-Carrillo Michelle, Klein Teri, Leeder J Stev  |
| Application of a Serum Protein Signature for Pancreatic Cancer to Separate Cases from Controls in a Pancreatic Surveillance Cohort. Translational oncology 2016 Jun 9 (3): 242-7. Potjer Thomas P, Mertens Bart J, Nicolardi Simone, van der Burgt Yuri E M, Bonsing Bert A, Mesker Wilma E, Tollenaar Rob A E M, Vasen Hans F |
| Evaluation of non-coding variation in GLUT1 deficiency. Developmental medicine and child neurology 2016 Jun . Liu Yu-Chi, Lee Jia Wei Audrey, Bellows Susannah T, Damiano John A, Mullen Saul A, Berkovic Samuel F, Bahlo Melanie, Scheffer Ingrid E, Hildebrand Michael S, |
| Relationship between diabetes, platelet reactivity, and the SYNTAX score to one-year clinical outcome in patients with non-ST-segment elevation acute coronary syndrome undergoing percutaneous coronary intervention. EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology 2016 Jun 12 (3): 312-8. De Servi Stefano, Crimi Gabriele, Calabrò Paolo, Piscione Federico, Cattaneo Marco, Maffeo Diego, Toso Anna, Bartorelli Antonio, Palmieri Cataldo, De Carlo Marco, Capodanno Davide, Barozzi Chiara, Tomasi Luciana, Della Riva Diego, Angiolillo Dominick J, Palmerini Tull |
| HLA-B*57: 01 genotyping in the prevention of hypersensitivity to abacavir: 5 years of experience. Pharmacogenetics and genomics 2016 May . Ruiz-Iruela Cristina, Padullés-Zamora Núria, Podzamczer-Palter Daniel, Alonso-Pastor Arnald, Candás-Estébanez Beatriz, Alía-Ramos Pedro, Padró-Miquel Ariad |
| Implementation of a High-Resolution Single-Nucleotide Polymorphism Array in Analyzing the Products of Conception. Genetic testing and molecular biomarkers 2016 May . Zhang HuiMin, Liu WeiQiang, Chen Min, Li ZhiHua, Sun XiaoFang, Wang ChenHo |
| Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
| Primary prevention of beta-cell autoimmunity and type 1 diabetes - The Global Platform for the Prevention of Autoimmune Diabetes (GPPAD) perspectives. Molecular metabolism 2016 Apr 5 (4): 255-62. Ziegler A G, Danne T, Dunger D B, Berner R, Puff R, Kiess W, Agiostratidou G, Todd J A, Bonifacio  |
| Systematic characterization and comparison of the CYP2C9 variability of the Orang Asli in Malaysia with 12 populations. Drug metabolism and pharmacokinetics 2016 Apr . Teh Lay Kek, Subramaniam Vinothini, Tuan Abdu Aziz Tuan Azlin, Lee Lian Shien, Ismail Mohamed Izwan, Yu Choo Yee, Ang Geik Yong, James Johari Richard, Ismet Rose Iszati, Sahak Noor Saadah, Ahmad Aminuddin, Rahman Thuhairah Abdul, Nor Ghazali Fadzilah Mohd, Shaari SyahrulAzlin, Omar Mustaffa, Ismail Adzrool Idzwan, Md Isa Kamarudzaman, Salleh Hood, Salleh Mohd Za |
| Prevalence of ?-thalassaemia genotypes in pregnant women in northern Thailand. The Indian journal of medical research 2016 Mar 143 (3): 315-22. Pharephan Somphon, Sirivatanapa Pannee, Makonkawkeyoon Sanit, Tuntiwechapikul Wirote, Makonkawkeyoon Luksa |
| Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. Prenatal diagnosis 2016 Feb . Orhant Lucie, Anselem Olivia, Fradin Mélanie, Becker Pierre Hadrien, Beugnet Caroline, Deburgrave Nathalie, Tafuri Gilles, Letourneur Franck, Goffinet François, El Khattabi Laïla Allach, Leturcq France, Bienvenu Thierry, Tsatsaris Vassilis, Nectoux Juliet |
| Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies. The Journal of molecular diagnostics : JMD 2016 Jan . Fisher Kevin E, Zhang Linsheng, Wang Jason, Smith Geoffrey H, Newman Scott, Schneider Thomas M, Pillai Rathi N, Kudchadkar Ragini R, Owonikoko Taofeek K, Ramalingam Suresh S, Lawson David H, Delman Keith A, El-Rayes Bassel F, Wilson Malania M, Sullivan H Clifford, Morrison Annie S, Balci Serdar, Adsay N Volkan, Gal Anthony A, Sica Gabriel L, Saxe Debra F, Mann Karen P, Hill Charles E, Khuri Fadlo R, Rossi Michael |
| CYP1A2 genotype affects carbamazepine pharmacokinetics in children with epilepsy. European journal of clinical pharmacology 2016 Jan . Djordjevic Natasa, Milovanovic Dragana Dragas, Radovanovic Marija, Radosavljevic Ivan, Obradovic Slobodan, Jakovljevic Mihajlo, Milovanovic Dragan, Milovanovic Jasmina R, Jankovic Slobod |
| The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. The Journal of molecular diagnostics : JMD 2016 Jan 18 (1): 39-50. Schrijver Iris, Pique Lynn, Graham Steve, Pearl Michelle, Cherry Athena, Kharrazi Mart |
| A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PloS one 2016 11 (9): e0162866. Mizzi Clint, Dalabira Eleni, Kumuthini Judit, Dzimiri Nduna, Balogh Istvan, Ba?ak Nazli, Böhm Ruwen, Borg Joseph, Borgiani Paola, Bozina Nada, Bruckmueller Henrike, Burzynska Beata, Carracedo Angel, Cascorbi Ingolf, Deltas Constantinos, Dolzan Vita, Fenech Anthony, Grech Godfrey, Kasiulevicius Vytautas, Kádaši ?udevít, Ku?inskas Vaidutis, Khusnutdinova Elza, Loukas Yiannis L, Macek Milan, Makukh Halyna, Mathijssen Ron, Mitropoulos Konstantinos, Mitropoulou Christina, Novelli Giuseppe, Papantoni Ioanna, Pavlovic Sonja, Saglio Giuseppe, Setric Jadranka, Stojiljkovic Maja, Stubbs Andrew P, Squassina Alessio, Torres Maria, Turnovec Marek, van Schaik Ron H, Voskarides Konstantinos, Wakil Salma M, Werk Anneke, Del Zompo Maria, Zukic Branka, Katsila Theodora, Lee Ming Ta Michael, Motsinger-Rief Alison, Mc Leod Howard L, van der Spek Peter J, Patrinos George  |
| Adherence to Pre-Exposure Prophylaxis for HIV Prevention in a Clinical Setting. PloS one 2016 11 (6): e0157742. Montgomery Madeline C, Oldenburg Catherine E, Nunn Amy S, Mena Leandro, Anderson Peter, Liegler Teri, Mayer Kenneth H, Patel Rupa, Almonte Alexi, Chan Philip  |
| Glucose-6-phosphate dehydrogenase deficiency prevalence and genetic variants in malaria endemic areas of Colombia. Malaria journal 2016 15 (1): 291. Valencia Sócrates Herrera, Ocampo Iván Darío, Arce-Plata María Isabel, Recht Judith, Arévalo-Herrera Myri |
| IGHV1-69 polymorphism modulates anti-influenza antibody repertoires, correlates with IGHV utilization shifts and varies by ethnicity. Scientific reports 2016 6 20842. Avnir Yuval, Watson Corey T, Glanville Jacob, Peterson Eric C, Tallarico Aimee S, Bennett Andrew S, Qin Kun, Fu Ying, Huang Chiung-Yu, Beigel John H, Breden Felix, Zhu Quan, Marasco Wayne  |
| Immune response-associated gene analysis of 1,000 cancer patients using whole-exome sequencing and gene expression profiling-Project HOPE. Biomedical research (Tokyo, Japan) 2016 37 (4): 233-42. Akiyama Yasuto, Kondou Ryota, Iizuka Akira, Ohshima Keiichi, Urakami Kenichi, Nagashima Takeshi, Shimoda Yuji, Tanabe Tomoe, Ohnami Sumiko, Ohnami Shumpei, Kusuhara Masatoshi, Mochizuki Tohru, Yamaguchi K |
| Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics. Acta neuropathologica communications 2016 4 (1): 1. Hoffman Lindsey M, DeWire Mariko, Ryall Scott, Buczkowicz Pawel, Leach James, Miles Lili, Ramani Arun, Brudno Michael, Kumar Shiva Senthil, Drissi Rachid, Dexheimer Phillip, Salloum Ralph, Chow Lionel, Hummel Trent, Stevenson Charles, Lu Q Richard, Jones Blaise, Witte David, Aronow Bruce, Hawkins Cynthia E, Fouladi Mary  |
| Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600 mg in Treatment-Naïve HIV-Infected Patients at 96 Weeks: Results of the ENCORE1 Study. Clinical pharmacokinetics 2015 Dec . Dickinson Laura, Amin Janaki, Else Laura, Boffito Marta, Egan Deirdre, Owen Andrew, Khoo Saye, Back David, Orrell Catherine, Clarke Amanda, Losso Marcelo, Phanuphak Praphan, Carey Dianne, Cooper David A, Emery Sean, Puls Rebek |
| Efficient and powerful method for combining p-values in Genome-wide Association Studies. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM 2015 Dec . Vilor-Tejedor Natalia, Gonzalez Juan, Calle Ma |
| Androgen receptor CAG repeat length and estrogen receptor status in postmenopausal breast cancer prognosis. The International journal of biological markers 2015 Oct 0. Cogliati Patrizia, Ciniselli Chiara Maura, Agresti Roberto, Paolini Biagio, Bonini Chiara, Radice Paolo, Krogh Vittorio, Verderio Paolo, Venturelli Elisabet |
| Genetic risk score based on the lifetime prevalence of femoral fracture in 924 consecutive autopsies of Japanese males. Journal of bone and mineral metabolism 2015 Oct . Zhou Heying, Mori Seijiro, Ishizaki Tatsuro, Tanaka Masashi, Tanisawa Kumpei, Mieno Makiko Naka, Sawabe Motoji, Arai Tomio, Muramatsu Masaaki, Yamada Yoshiji, Ito Hide |
| Rapid Detection Method for the Four Most Common CHEK2 Mutations Based on Melting Profile Analysis. Molecular diagnosis & therapy 2015 Oct . Borun Pawel, Salanowski Kacper, Godlewski Dariusz, Walkowiak Jaroslaw, Plawski Andrz |
| SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data. Bioinformatics (Oxford, England) 2015 Oct 31 (19): 3105-13. Kim Junho, Kim Sanghyeon, Nam Hojung, Kim Sangwoo, Lee Dohe |
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| Effects of a HLA-B*15:02 screening policy on antiepileptic drug use and severe skin reactions. Neurology 2014 Nov 83 (22): 2077-84. Chen Zhibin, Liew Danny, Kwan Patri  |
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