Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: AKAP9[original query] |
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Role of DISC1 interacting proteins in schizophrenia risk from genome-wide analysis of missense SNPs. Annals of human genetics 2013 Jul . Costas J, Suárez-Rama JJ, Carrera N, Paz E, Páramo M, Agra S, Brenlla J, Ramos-Ríos R, Arrojo M |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic testing and molecular biomarkers 2013 Jul 17 (7): 553-61. Lieve Krystien V, Williams Leah, Daly Amy, Richard Gabriele, Bale Sherri, Macaya Daniela, Chung Wendy |
AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. Circulation. Cardiovascular genetics 2014 Oct 7 (5): 599-606. de Villiers Carin P, van der Merwe Lize, Crotti Lia, Goosen Althea, George Alfred L, Schwartz Peter J, Brink Paul A, Moolman-Smook Johanna C, Corfield Valerie |
Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. Alzheimer's & dementia : the journal of the Alzheimer's Association 2014 Nov 10 (6): 609-618.e11. Logue Mark W, Schu Matthew, Vardarajan Badri N, Farrell John, Bennett David A, Buxbaum Joseph D, Byrd Goldie S, Ertekin-Taner Nilufer, Evans Denis, Foroud Tatiana, Goate Alison, Graff-Radford Neill R, Kamboh M Ilyas, Kukull Walter A, Manly Jennifer J, , |
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Human molecular genetics 2014 Nov 23 (22): 6096-111. Milne Roger L, Burwinkel Barbara, Michailidou Kyriaki, Arias-Perez Jose-Ignacio, Zamora M Pilar, Menéndez-Rodríguez Primitiva, Hardisson David, Mendiola Marta, González-Neira Anna, Pita Guillermo, Alonso M Rosario, Dennis Joe, Wang Qin, Bolla Manjeet K, Swerdlow Anthony, Ashworth Alan, Orr Nick, Schoemaker Minouk, Ko Yon-Dschun, Brauch Hiltrud, Hamann Ute, , Andrulis Irene L, Knight Julia A, Glendon Gord, Tchatchou Sandrine, , , Matsuo Keitaro, Ito Hidemi, Iwata Hiroji, Tajima Kazuo, Li Jingmei, Brand Judith S, Brenner Hermann, Dieffenbach Aida Karina, Arndt Volker, Stegmaier Christa, Lambrechts Diether, Peuteman Gilian, Christiaens Marie-Rose, Smeets Ann, Jakubowska Anna, Lubinski Jan, Jaworska-Bieniek Katarzyna, Durda Katazyna, Hartman Mikael, Hui Miao, Yen Lim Wei, Wan Chan Ching, Marme Federick, Yang Rongxi, Bugert Peter, Lindblom Annika, Margolin Sara, García-Closas Montserrat, Chanock Stephen J, Lissowska Jolanta, Figueroa Jonine D, Bojesen Stig E, Nordestgaard Børge G, Flyger Henrik, Hooning Maartje J, Kriege Mieke, van den Ouweland Ans M W, Koppert Linetta B, Fletcher Olivia, Johnson Nichola, dos-Santos-Silva Isabel, Peto Julian, Zheng Wei, Deming-Halverson Sandra, Shrubsole Martha J, Long Jirong, Chang-Claude Jenny, Rudolph Anja, Seibold Petra, Flesch-Janys Dieter, Winqvist Robert, Pylkäs Katri, Jukkola-Vuorinen Arja, Grip Mervi, Cox Angela, Cross Simon S, Reed Malcolm W R, Schmidt Marjanka K, Broeks Annegien, Cornelissen Sten, Braaf Linde, Kang Daehee, Choi Ji-Yeob, Park Sue K, Noh Dong-Young, Simard Jacques, Dumont Martine, Goldberg Mark S, Labrèche France, Fasching Peter A, Hein Alexander, Ekici Arif B, Beckmann Matthias W, Radice Paolo, Peterlongo Paolo, Azzollini Jacopo, Barile Monica, Sawyer Elinor, Tomlinson Ian, Kerin Michael, Miller Nicola, Hopper John L, Schmidt Daniel F, Makalic Enes, Southey Melissa C, Hwang Teo Soo, Har Yip Cheng, Sivanandan Kavitta, Tay Wan-Ting, Shen Chen-Yang, Hsiung Chia-Ni, Yu Jyh-Cherng, Hou Ming-Feng, Guénel Pascal, Truong Therese, Sanchez Marie, Mulot Claire, Blot William, Cai Qiuyin, Nevanlinna Heli, Muranen Taru A, Aittomäki Kristiina, Blomqvist Carl, Wu Anna H, Tseng Chiu-Chen, Van Den Berg David, Stram Daniel O, Bogdanova Natalia, Dörk Thilo, Muir Kenneth, Lophatananon Artitaya, Stewart-Brown Sarah, Siriwanarangsan Pornthep, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Hartikainen Jaana M, Shu Xiao-Ou, Lu Wei, Gao Yu-Tang, Zhang Ben, Couch Fergus J, Toland Amanda E, , Yannoukakos Drakoulis, Sangrajrang Suleeporn, McKay James, Wang Xianshu, Olson Janet E, Vachon Celine, Purrington Kristen, Severi Gianluca, Baglietto Laura, Haiman Christopher A, Henderson Brian E, Schumacher Fredrick, Le Marchand Loic, Devilee Peter, Tollenaar Robert A E M, Seynaeve Caroline, Czene Kamila, Eriksson Mikael, Humphreys Keith, Darabi Hatef, Ahmed Shahana, Shah Mitul, Pharoah Paul D P, Hall Per, Giles Graham G, Benítez Javier, Dunning Alison M, Chenevix-Trench Georgia, Easton Douglas |
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology 2014 Apr 63 (14): 1430-7. Weeke Peter, Mosley Jonathan D, Hanna David, Delaney Jessica T, Shaffer Christian, Wells Quinn S, Van Driest Sara, Karnes Jason H, Ingram Christie, Guo Yan, Shyr Yu, Norris Kris, Kannankeril Prince J, Ramirez Andrea H, Smith Joshua D, Mardis Elaine R, Nickerson Deborah, George Alfred L, Roden Dan |
Alzheimer's disease: rare variants with large effect sizes. Current opinion in genetics & development 2015 Aug 33 49-55. Del-Aguila Jorge L, Koboldt Daniel C, Black Kathleen, Chasse Rachel, Norton Joanne, Wilson Richard K, Cruchaga Carl |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility. Journal of psychiatric research 0 66-67 38-44. Suárez-Rama José Javier, Arrojo Manuel, Sobrino Beatriz, Amigo Jorge, Brenlla Julio, Agra Santiago, Paz Eduardo, Brión María, Carracedo Ángel, Páramo Mario, Costas Javi |
Cell-free DNA mutations as biomarkers in breast cancer patients receiving tamoxifen. Oncotarget 2016 May . Jansen Maurice Phm, Martens John Wm, Helmijr Jean Ca, Beaufort Corine M, van Marion Ronald, Krol Niels Mg, Monkhorst Kim, Trapman-Jansen Anita Mac, Meijer-van Gelder Marion E, Weerts Marjolein Ja, Ramirez-Ardila Diana E, Dubbink Hendrikus Jan, Foekens John A, Sleijfer Stefan, Berns Els M |
Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies. PloS one 2017 7 12 (7): e0181842. Forleo Cinzia, D'Erchia Anna Maria, Sorrentino Sandro, Manzari Caterina, Chiara Matteo, Iacoviello Massimo, Guaricci Andrea Igoren, De Santis Delia, Musci Rita Leonarda, La Spada Antonino, Marangelli Vito, Pesole Graziano, Favale Stefa |
Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function. Journal of Alzheimer's disease & Parkinsonism 2017 11 7 (4): . Cukier H N, Kunkle B K, Hamilton K L, Rolati S, Kohli M A, Whitehead P L, Jaworski J, Vance J M, Cuccaro M L, Carney R M, Gilbert J R, Farrer L A, Martin E R, Beecham G W, Haines J L, Pericak-Vance M |
Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants. Frontiers in neuroscience 2018 12 592. Logue Mark W, Lancour Daniel, Farrell John, Simkina Irina, Fallin M Daniele, Lunetta Kathryn L, Farrer Lindsay |
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. Annals of clinical and translational neurology 2018 Apr 5 (4): 406-417. Vardarajan Badri N, Barral Sandra, Jaworski James, Beecham Gary W, Blue Elizabeth, Tosto Giuseppe, Reyes-Dumeyer Dolly, Medrano Martin, Lantigua Rafael, Naj Adam, Thornton Timothy, DeStefano Anita, Martin Eden, Wang Li-San, Brown Lisa, Bush William, van Duijn Cornelia, Goate Allison, Farrer Lindsay, Haines Jonathan L, Boerwinkle Eric, Schellenberg Gerard, Wijsman Ellen, Pericak-Vance Margaret A, Mayeux Richard, , Wang Li-S |
Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing. Journal of translational medicine 2019 6 17 (1): 189. Cai Hui, Jing Changqing, Chang Xusheng, Ding Dan, Han Ting, Yang Junchi, Lu Zhengmao, Hu Xuguang, Liu Zhaorui, Wang Jinshen, Shang Liang, Wu Shouxin, Meng Peng, Lin Ling, Zhao Jiangman, Nie Mingming, Yin K |
Integrative molecular characterization of Chinese prostate cancer specimens. Asian journal of andrology 2019 May . Lv Shi-Dong, Wang Hong-Yi, Yu Xin-Pei, Zhai Qi-Liang, Wu Yao-Bin, Wei Qiang, Huang Wen-H |
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. Cold Spring Harbor molecular case studies 2019 12 5 (6): . Cochran J Nicholas, McKinley Emily C, Cochran Meagan, Amaral Michelle D, Moyers Bryan A, Lasseigne Brittany N, Gray David E, Lawlor James M J, Prokop Jeremy W, Geier Ethan G, Holt James M, Thompson Michelle L, Newberry J Scott, Yokoyama Jennifer S, Worthey Elizabeth A, Geldmacher David S, Love Marissa Natelson, Cooper Gregory M, Myers Richard M, Roberson Erik |
Host Genetic and Gut Microbial Signatures in Familial Inflammatory Bowel Disease. Clinical and translational gastroenterology 2020 8 11 (7): e00213. Park Yoo Min, Ha Eunji, Gu Ki-Nam, Shin Ga Young, Lee Chang Kyun, Kim Kwangwoo, Kim Hyo Jo |
Major Oncogenic Drivers and Their Clinicopathological Correlations in Sporadic Childhood Papillary Thyroid Carcinoma in Belarus. Cancers 2021 Jul 13 (13): . Rogounovitch Tatiana I, Mankovskaya Svetlana V, Fridman Mikhail V, Leonova Tatiana A, Kondratovitch Victor A, Konoplya Natalya E, Yamashita Shunichi, Mitsutake Norisato, Saenko Vladimir |
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine 2021 Apr 66 103309. Amanat Sana, Gallego-Martinez Alvaro, Sollini Joseph, Perez-Carpena Patricia, Espinosa-Sanchez Juan M, Aran Ismael, Soto-Varela Andres, Batuecas-Caletrio Angel, Canlon Barbara, May Patrick, Cederroth Christopher R, Lopez-Escamez Jose |
Clinicopathological features and resistance mechanisms in HIP1-ALK-rearranged lung cancer: A multicenter study. Genes, chromosomes & cancer 2021 10 61 (4): 177-186. Kang Jin, Deng Qiu-Mei, Peng Kai-Cheng, Li Peng, Zhu Bao-Ting, Wang Pan, Chu Xiang-Peng, Zhong Wen-Zhao, Chen Hua-Jun, Wang Wen-Xian, Chen Hua-Fei, Rao Chuang-Zhou, Xu Chun-Wei, Yang Jin- |
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences. Breast cancer research : BCR 2021 1 23 (1): 1. Priedigkeit Nolan, Ding Kai, Horne William, Kolls Jay K, Du Tian, Lucas Peter C, Blohmer Jens-Uwe, Denkert Carsten, Machleidt Anna, Ingold-Heppner Barbara, Oesterreich Steffi, Lee Adrian |
Biomarkers of response to ibrutinib plus nivolumab in relapsed diffuse large B-cell lymphoma, follicular lymphoma, or Richter's transformation. Translational oncology 2021 1 14 (1): 100977. Hodkinson Brendan P, Schaffer Michael, Brody Joshua D, Jurczak Wojciech, Carpio Cecilia, Ben-Yehuda Dina, Avivi Irit, Forslund Ann, Özcan Muhit, Alvarez John, Ceulemans Rob, Fourneau Nele, Younes Anas, Balasubramanian Srir |
Transcript levels in plasma contribute substantial predictive value as potential Alzheimer's disease biomarkers in African Americans. EBioMedicine 2022 3 78 103929. Reddy Joseph S, Jin Jiangli, Lincoln Sarah J, Ho Charlotte C G, Crook Julia E, Wang Xue, Malphrus Kimberly G, Nguyen Thuy, Tamvaka Nikoleta, Greig-Custo Maria T, Lucas John A, Graff-Radford Neill R, Ertekin-Taner Nilüfer, Carrasquillo Minerva |
A-Kinase Anchoring Protein 9 Promotes Gastric Cancer Progression as a Downstream Effector of Cadherin 1. Journal of oncology 2022 11 2022 2830634. Yan Qiang, Wu Youliang, Li Deguan, Li Yongxia |
Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel. Journal of personalized medicine 2022 Jan 12 (1): . Hwang Jia, Kim Heeeun, Han Jinseon, Lee Jieun, Hong Sunghoo, Kim Saewoong, Yoon Sungjoo Kim, Choi Keonwoo, Yang Jihoon, Park Unsang, Kim Kwangjoong, Yim Kwangil, Kim Yuil, Choi Yeongj |
Exome-wide analysis identify multiple variations in olfactory receptor genes (OR12D2 and OR5V1) associated with autism spectrum disorder in Saudi females. Frontiers in medicine 2023 2 10 1051039. Almandil Noor B, Alismail Maram Adnan, Alsuwat Hind Saleh, AlSulaiman Abdulla, AbdulAzeez Sayed, Borgio J Franc |
Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases. Circulation. Genomic and precision medicine 2024 1 e004260. Alexis Hermida, Flavie Ader, Guillaume Jedraszak, Guillaume Viboud, Véronique Fressart, Anne Claire Bréhin, Marion Gérard, Diala Khraiche, Asurélien Palmyre, Olivier Paziaud, Elena Popescu, Julie Proukhnitzky, Mikael Laredo, Pascale Richard, Geraldine Vedrenne, Agathe Vernier, Philippe Charron, Estelle Gandjbakh |
Identification of Rare Damaging Missense and Loss of Function Variants in GWAS Loci Using Genome Sequencing Data from Two Cohorts of Familial Late-Onset Alzheimer's Disease. medRxiv : the preprint server for health sciences 2024 1 . Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Kelley M Faber, Alison Goate, Brad Boeve, Carlos Cruchaga, Margaret Pericak-Vance, Jonathan L Haines, Roger Rosenberg, Debby Tsuang, Diones Rivera Mejia, Martin Medrano, Rafael A Lantigua, Robert A Sweet, David A Bennett, Robert S Wilson, Tatiana Foroud, Badri N Vardarajan, Richard Maye |
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- Page last updated:Apr 16, 2024
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