HuGE Literature Finder
Records 1-30
A rare variant in EZH2 is associated with prostate cancer risk.
International journal of cancer 2021 Apr . Raspin Kelsie, FitzGerald Liesel M, Marthick James R, Field Matt A, Malley Roslyn C, Banks Annette, Donovan Shaun, Thomson Russell J, Foley Georgea R, Stanford Janet L, Dickinson Joanne |
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 |
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.
Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 Apr . Prokopenko Dmitry, Morgan Sarah L, Mullin Kristina, Hofmann Oliver, Chapman Brad, Kirchner Rory, , Amberkar Sandeep, Wohlers Inken, Lange Christoph, Hide Winston, Bertram Lars, Tanzi Rudolph |
The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease.
Scientific reports 2021 Mar 11 (1): 6363. Bakeberg Megan C, Hoes Madison E, Gorecki Anastazja M, Theunissen Frances, Pfaff Abigail L, Kenna Jade E, Plunkett Kai, Kõks Sulev, Akkari P Anthony, Mastaglia Frank L, Anderton Ryan |
Combining targeted sequencing and ultra-low-pass whole-genome sequencing for accurate somatic copy number alteration detection.
Functional & integrative genomics 2021 Feb . Fu Junfeng, Guo Weihua, Yan Cheng, Lv Zhenyang, Wang Yu, Wang Ze, Fan Zhe, Lei Ti |
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
NPJ genomic medicine 2021 Feb 6 (1): 10. Wei Chun-Yu, Yang Jenn-Hwai, Yeh Erh-Chan, Tsai Ming-Fang, Kao Hsiao-Jung, Lo Chen-Zen, Chang Lung-Pao, Lin Wan-Jia, Hsieh Feng-Jen, Belsare Saurabh, Bhaskar Anand, Su Ming-Wei, Lee Te-Chang, Lin Yi-Ling, Liu Fu-Tong, Shen Chen-Yang, Li Ling-Hui, Chen Chien-Hsiun, Wall Jeffrey D, Wu Jer-Yuarn, Kwok Pui-Y |
Molecular analyses of triple-negative breast cancer in the young and elderly.
Breast cancer research : BCR 2021 Feb 23 (1): 20. Aine Mattias, Boyaci Ceren, Hartman Johan, Häkkinen Jari, Mitra Shamik, Campos Ana Bosch, Nimeus Emma, Ehinger Anna, Vallon-Christersson Johan, Borg Åke, Staaf Joh |
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
American journal of human genetics 2021 Feb . Somineni Hari K, Nagpal Sini, Venkateswaran Suresh, Cutler David J, Okou David T, Haritunians Talin, Simpson Claire L, Begum Ferdouse, Datta Lisa W, Quiros Antonio J, Seminerio Jenifer, Mengesha Emebet, Alexander Jonathan S, Baldassano Robert N, Dudley-Brown Sharon, Cross Raymond K, Dassopoulos Themistocles, Denson Lee A, Dhere Tanvi A, Iskandar Heba, Dryden Gerald W, Hou Jason K, Hussain Sunny Z, Hyams Jeffrey S, Isaacs Kim L, Kader Howard, Kappelman Michael D, Katz Jeffry, Kellermayer Richard, Kuemmerle John F, Lazarev Mark, Li Ellen, Mannon Peter, Moulton Dedrick E, Newberry Rodney D, Patel Ashish S, Pekow Joel, Saeed Shehzad A, Valentine John F, Wang Ming-Hsi, McCauley Jacob L, Abreu Maria T, Jester Traci, Molle-Rios Zarela, Palle Sirish, Scherl Ellen J, Kwon John, Rioux John D, Duerr Richard H, Silverberg Mark S, Zwick Michael E, Stevens Christine, Daly Mark J, Cho Judy H, Gibson Greg, McGovern Dermot P B, Brant Steven R, Kugathasan Sub |
Chronic migraine: Genetics or environment?
European journal of neurology 2021 Jan . Chalmer Mona Ameri, Rasmussen Andreas Høiberg, , , Kogelman Lisette J A, Olesen Jes, Hansen Thomas Folkma |
Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson's disease.
Parkinsonism & related disorders 2021 Jan 84 29-34. Jiang Li, Pan Hong-Xu, Zhao Yu-Wen, Zeng Qian, Liu Zhen-Hua, Sun Qi-Ying, Xu Qian, Tan Jie-Qiong, Yan Xin-Xiang, Li Jin-Chen, Tang Bei-Sha, Guo Ji-Fe |
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium.
EBioMedicine 2021 Jan 63 103157. Lin Bridget M, Grinde Kelsey E, Brody Jennifer A, Breeze Charles E, Raffield Laura M, Mychaleckyj Josyf C, Thornton Timothy A, Perry James A, Baier Leslie J, de Las Fuentes Lisa, Guo Xiuqing, Heavner Benjamin D, Hanson Robert L, Hung Yi-Jen, Qian Huijun, Hsiung Chao A, Hwang Shih-Jen, Irvin Margaret R, Jain Deepti, Kelly Tanika N, Kobes Sayuko, Lange Leslie, Lash James P, Li Yun, Liu Xiaoming, Mi Xuenan, Musani Solomon K, Papanicolaou George J, Parsa Afshin, Reiner Alex P, Salimi Shabnam, Sheu Wayne H-H, Shuldiner Alan R, Taylor Kent D, Smith Albert V, Smith Jennifer A, Tin Adrienne, Vaidya Dhananjay, Wallace Robert B, Yamamoto Kenichi, Sakaue Saori, Matsuda Koichi, Kamatani Yoichiro, Momozawa Yukihide, Yanek Lisa R, Young Betsi A, Zhao Wei, Okada Yukinori, Abecasis Gonzalo, Psaty Bruce M, Arnett Donna K, Boerwinkle Eric, Cai Jianwen, Yii-Der Chen Ida, Correa Adolfo, Cupples L Adrienne, He Jiang, Kardia Sharon Lr, Kooperberg Charles, Mathias Rasika A, Mitchell Braxton D, Nickerson Deborah A, Turner Steve T, Ramachandran Vasan S, Rotter Jerome I, Levy Daniel, Kramer Holly J, Köttgen Anna, Nhlbi Trans-Omics For Precision Medicine TOPMed Consortium , TOPMed Kidney Working Group , Rich Stephen S, Lin Dan-Yu, Browning Sharon R, Franceschini No |
Whole genome sequencing of metastatic colorectal cancer reveals prior treatment effects and specific metastasis features.
Nature communications 2021 01 12 (1): 574. Mendelaar Pauline A J, Smid Marcel, van Riet Job, Angus Lindsay, Labots Mariette, Steeghs Neeltje, Hendriks Mathijs P, Cirkel Geert A, van Rooijen Johan M, Ten Tije Albert J, Lolkema Martijn P, Cuppen Edwin, Sleijfer Stefan, Martens John W M, Wilting Saskia |
Assessment of LIN28A variants in Parkinson's disease in large European cohorts.
Neurobiology of aging 2020 Dec . Diez-Fairen Monica, Makarious Mary B, Bandres-Ciga Sara, Blauwendraat Cornelis, |
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.
medRxiv : the preprint server for health sciences 2020 Dec . Povysil Gundula, Butler-Laporte Guillaume, Shang Ning, Weng Chen, Khan Atlas, Alaamery Manal, Nakanishi Tomoko, Zhou Sirui, Forgetta Vincenzo, Eveleigh Robert, Bourgey Mathieu, Aziz Naveed, Jones Steven, Knoppers Bartha, Scherer Stephen, Strug Lisa, Lepage Pierre, Ragoussis Jiannis, Bourque Guillaume, Alghamdi Jahad, Aljawini Nora, Albes Nour, Al-Afghani Hani M, Alghamdi Bader, Almutair Mansour, Mahmoud Ebrahim Sabri, Safie Leen Abu, Bardisy Hadeel El, Harthi Fawz S Al, Alshareef Abdulraheem, Suliman Bandar Ali, Alqahtani Saleh, AlMalik Abdulaziz, Alrashed May M, Massadeh Salam, Mooser Vincent, Lathrop Mark, Arabi Yaseen, Mbarek Hamdi, Saad Chadi, Al-Muftah Wadha, Badji Radja, Thani Asma Al, Ismail Said I, Gharavi Ali G, Abedalthagafi Malak S, Richards J Brent, Goldstein David B, Kiryluk Krzyszt |
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clinical genetics 2020 Nov . Delvallée Clarisse, Nicaise Samuel, Antin Manuela, Leuvrey Anne-Sophie, Nourisson Elsa, Leitch Carmen C, Kellaris Georgios, Stoetzel Corinne, Geoffroy Véronique, Scheidecker Sophie, Keren Boris, Depienne Christel, Klar Joakim, Dahl Niklas, Deleuze Jean-François, Génin Emmanuelle, Redon Richard, Demurger Florence, Devriendt Koenraad, Mathieu-Dramard Michèle, Poitou-Bernert Christine, Odent Sylvie, Katsanis Nicholas, Mandel Jean-Louis, Davis Erica E, Dollfus Hélène, Muller Je |
Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease.
Neurobiology of aging 2020 Nov . Liu Hongli, Wang Yige, Pan Hongxu, Xu Kun, Jiang Li, Zhao Yuwen, Xu Qian, Sun Qiying, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
Identification of Genetic Susceptibility Factors Associated with Canine Gastric Dilatation-Volvulus.
Genes 2020 Nov 11 (11): . Piras Ignazio S, Perdigones Nieves, Zismann Victoria, Briones Natalia, Facista Salvatore, Rivera José Luis, Rozanski Elizabeth, London Cheryl A, Hendricks William P |
Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.
Neurobiology of aging 2020 Nov . Senkevich Konstantin, Bandres-Ciga Sara, Gan-Or Ziv, Krohn Lynne, |
Mutational analysis of known ALS genes in an Italian population-based cohort.
Neurology 2020 Nov . Grassano Maurizio, Calvo Andrea, Moglia Cristina, Brunetti Maura, Barberis Marco, Sbaiz Luca, Canosa Antonio, Manera Umberto, Vasta Rosario, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Scholz Sonja W, Dalgard Clifton, Ding Jinhui, Gibbs Raphael J, Chia Ruth, Traynor Bryan J, Chiò Adriano, |
Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes.
Scientific reports 2020 Nov 10 (1): 19193. Onengut-Gumuscu Suna, Paila Umadevi, Chen Wei-Min, Ratan Aakrosh, Zhu Zhennan, Steck Andrea K, Frohnert Brigitte I, Waugh Kathleen C, Webb-Robertson Bobbie-Jo M, Norris Jill M, Lange Leslie A, Rewers Marian J, Rich Stephen |
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.
medRxiv : the preprint server for health sciences 2020 Nov . Prokopenko Dmitry, Morgan Sarah L, Mullin Kristina, Hofmann Oliver, Chapman Brad, Kirchner Rory, Amberkar Sandeep, Wohlers Inken, Lange Christoph, Hide Winston, Bertram Lars, Tanzi Rudolph |
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Scientific reports 2020 Oct 10 (1): 18051. Trevino Cristina E, Holleman Aaron M, Corbitt Holly, Maslen Cheryl L, Rosser Tracie C, Cutler David J, Johnston H Richard, Rambo-Martin Benjamin L, Oberoi Jai, Dooley Kenneth J, Capone George T, Reeves Roger H, Cordell Heather J, Keavney Bernard D, Agopian A J, Goldmuntz Elizabeth, Gruber Peter J, O'Brien James E, Bittel Douglas C, Wadhwa Lalita, Cua Clifford L, Mulle Jennifer G, Epstein Michael P, Sherman Stephanie L, Zwick Michael |
Driver mutations occur frequently in metastases of well-differentiated small intestinal neuroendocrine tumours.
Histopathology 2020 Sep . Samsom Kris G, Levy Sonja, van Veenendaal Linde M, Roepman Paul, Kodach Liudmila L, Steeghs Neeltje, Valk Gerlof D, Dercksen M Wouter, Kuhlmann Koert F D, Verbeek Wieke H M, Meijer Gerrit A, Tesselaar Margot E T, van den Berg José |
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts.
Translational psychiatry 2020 Sep 10 (1): 307. Jiang Shan, Zhou Daizhan, Wang Yin-Ying, Jia Peilin, Wan Chunling, Li Xingwang, He Guang, Cao Dongmei, Jiang Xiaoqian, Kendler Kenneth S, Tsuang Ming, Mize Travis, Wu Jain-Shing, Lu Yimei, He Lin, Chen Jingchun, Zhao Zhongming, Chen Xiangni |
No relationship between SRY variants and risk of Parkinson's disease in Chinese population.
Neurobiology of aging 2020 Sep . Pan Hongxu, Wang Yige, Zhao Yuwen, Jiang Li, Zeng Qian, He Yan, Fang Zhenghuan, Wang Zheng, Xu Qian, Sun Qiying, Tan Jieqiong, Yan Xinxiang, Li Jinchen, Tang Beisha, Guo Jife |
The MIR137 VNTR rs58335419 Is Associated With Cognitive Impairment in Schizophrenia and Altered Cortical Morphology.
Schizophrenia bulletin 2020 Sep . Mahmoudi Ebrahim, Atkins Joshua R, Quidé Yann, Reay William R, Cairns Heath M, Fitzsimmons Chantel, Carr Vaughan J, Green Melissa J, Cairns Murray |
Unique roles of rare variants in the genetics of complex diseases in humans.
Journal of human genetics 2020 Sep . Momozawa Yukihide, Mizukami Keiji |
A Novel Locus for Exertional Dyspnea in Childhood Asthma.
The European respiratory journal 2020 Aug . Lee Sanghun, Lasky-Su Jessica Ann, Lange Christoph, Kim Wonji, Kumar Preeti Lakshman, McDonald Merry-Lynn N, Fragoso Carlos A Vaz, Laurie Cecelia, Raby Benjamin A, Celedón Juan C, Cho Michael H, Won Sungho, Weiss Scott T, Hecker Juli |
BRIP1 rs10744996C>A variant increases the risk of COPD in Mongolian population of Northern China.
Experimental physiology 2020 Aug . Wang Jing, Sun Dejun, Lu Wenju, Zhang Zili, Zhang Chenting, Hu |
Genome-Wide Association Study of Smoking Behavior Traits in a Chinese Han Population.
Frontiers in psychiatry 2020 11 564239. Li Meng, Chen Ying, Yao Jianhua, Lu Sheming, Guan Ying, Xu Yuqiong, Liu Qiang, Sun Silong, Mi Qili, Mei Junpu, Li Xuemei, Miao Mingming, Zhao Shancen, Zhu Zhouh |
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- Page last updated:Apr 14, 2021
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