HuGE Literature Finder
Records 1-30
|
A genome-wide association meta-analysis identifies new Eosinophilic esophagitis loci.
The Journal of allergy and clinical immunology 2021 Sep . Chang Xiao, March Michael, Mentch Frank, Nguyen Kenny, Glessner Joseph, Qu Huiqi, Liu Yichuan, Furuta Glen, Aceves Seema, Gonsalves Nirmala, Nadeau Kari, Cianferoni Antonella, Spergel Jonathan, Sleiman Patrick, Hakonarson Hak |
|
Re-examining the association of AmpC variants with
Antimicrobial agents and chemotherapy 2021 Sep AAC0159621. Feng Yu, Hu Ya, Zong Zhiyo |
|
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
NPJ genomic medicine 2021 Sep 6 (1): 74. van Eyk C L, Webber D L, Minoche A E, Pérez-Jurado L A, Corbett M A, Gardner A E, Berry J G, Harper K, MacLennan A H, Gecz |
|
Balanced and unbalanced translocations in a multicentric series of 2,843 patients with chronic lymphocytic leukemia.
Genes, chromosomes & cancer 2021 Aug . Costa Dolors, Granada Isabel, Espinet Blanca, Collado Rosa, Ruiz-Xivillé Neus, Puiggros Anna, Uribe Marisol, Arias Amparo, Gómez Cándida, Delgado Julio, Pereira Arturo, Magnano Laura, Colomer Dolors, López Cristina, Beà Sílv |
|
Genomic Autopsy of Sudden Deaths in Young Individuals.
JAMA cardiology 2021 Aug . Webster Gregory, Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Vanoye Carlos G, Potet Franck, Page Patrick, Kearns Samuel D, Pottinger Tess, White Steven, Arunkumar Ponni, Olson Rachael, Kofman Amber, Ibrahim Nora, Ing Alexander, Brew Casey, Yap Kai Lee, Kadri Sabah, George Alfred L, McNally Elizabeth |
|
High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.
Breast cancer (Tokyo, Japan) 2021 Aug . Zhu Liang, Pan Jia-Ni, Qian Ziliang, Ye Wei-Wu, Wang Xiao-Jia, Cao Wen-Mi |
|
Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'.
Cytokine 2021 Jul 155662. Smieszek Sandra P, Przychodzen Bartlomiej P, Polymeropoulos Vasilios M, Polymeropoulos Christos M, Polymeropoulos Mihael |
|
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Journal of thoracic disease 2021 Jul 13 (7): 4008-4022. Chen Zhao-Ran, Bao Ming-Hui, Wang Xing-Yu, Yang Yan-Min, Huang Bi, Han Zhong-Li, Cai Jun, Fan Xiao-H |
|
Loss of Function Mutations in the IFNAR2 in COVID-19 Severe Infection Susceptibility.
Journal of global antimicrobial resistance 2021 Jul . Smieszek Sandra P, Polymeropoulos Mihael |
|
The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.
Scientific reports 2021 Jul 11 (1): 14529. Pol-Fuster Josep, Cañellas Francesca, Ruiz-Guerra Laura, Medina-Dols Aina, Bisbal-Carrió Bàrbara, Ortega-Vila Bernat, Llinàs Jaume, Hernandez-Rodriguez Jessica, Lladó Jerònia, Olmos Gabriel, Strauch Konstantin, Heine-Suñer Damià, Vives-Bauzà Cristòfol, Flaquer Antòn |
|
TOMM40 '523' poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson's disease.
NPJ Parkinson's disease 2021 Jul 7 (1): 56. Bakeberg Megan C, Gorecki Anastazja M, Pfaff Abigail L, Hoes Madison E, Kõks Sulev, Akkari P Anthony, Mastaglia Frank L, Anderton Ryan |
|
Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.
Physiological reports 2021 Jun 9 (11): e14886. Walton Nathan I, Zhang Xijun, Soltis Anthony R, Starr Joshua, Dalgard Clifton L, Wilkerson Matthew D, Conrad Douglas, Pollard Harvey |
|
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Neurology 2021 May 96 (18): e2251-e2260. Heron Sarah E, Regan Brigid M, Harris Rebekah V, Gardner Alison E, Coleman Matthew J, Bennett Mark F, Grinton Bronwyn E, Helbig Katherine L, Sperling Michael R, Haut Sheryl, Geller Eric B, Widdess-Walsh Peter, Pelekanos James T, Bahlo Melanie, Petrovski Slavé, Heinzen Erin L, Hildebrand Michael S, Corbett Mark A, Scheffer Ingrid E, Gécz Jozef, Berkovic Samuel |
|
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Fertility and sterility 2021 May . Trevino Cristina E, Rounds J Christopher, Charen Krista, Shubeck Lisa, Hipp Heather S, Spencer Jessica B, Johnston H Richard, Cutler Dave J, Zwick Michael E, Epstein Michael P, Murray Anna, Macpherson James N, Mila Montserrat, Rodriguez-Revenga Laia, Berry-Kravis Elizabeth, Hall Deborah A, Leehey Maureen A, Liu Ying, Welt Corrine, Warren Stephen T, Sherman Stephanie L, Jin Peng, Allen Emily |
|
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE e4 carriers.
Translational psychiatry 2021 May 11 (1): 296. Park Jong-Ho, Park Inho, Youm Emilia Moonkyung, Lee Sejoon, Park June-Hee, Lee Jongan, Lee Dong Young, Byun Min Soo, Lee Jun Ho, Yi Dahyun, Chung Sun Ju, Park Kye Won, Choi Nari, Kim Seong Yoon, Yoon Woon, An Hoyoung, Kim Ki Woong, Choi Seong Hye, Jeong Jee Hyang, Kim Eun-Joo, Kang Hyojin, Lee Junehawk, Kim Younghoon, Lee Eunjung Alice, Seo Sang Won, Na Duk L, Kim Jong-W |
|
Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.
Cancers 2021 May 13 (11): . Yepes Sally, Shah Nirav N, Bai Jiwei, Koka Hela, Li Chuzhong, Gui Songbai, McMaster Mary Lou, Xiao Yanzi, Jones Kristine, Wang Mingyi, Vogt Aurelie, Zhu Bin, Zhu Bin, Hutchinson Amy, Yeager Meredith, Hicks Belynda, Carter Brian, Freedman Neal D, Beane-Freeman Laura, Chanock Stephen J, Zhang Yazhuo, Parry Dilys M, Yang Xiaohong R, Goldstein Alisa |
|
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
The Journal of clinical investigation 2021 May . Povysil Gundula, Butler-Laporte Guillaume, Shang Ning, Wang Chen, Khan Atlas, Alaamery Manal, Nakanishi Tomoko, Zhou Sirui, Forgetta Vincenzo, Eveleigh Robert J M, Bourgey Mathieu, Aziz Naveed, Jones Steven Jm, Knoppers Bartha, Scherer Stephen W, Strug Lisa J, Lepage Pierre, Ragoussis Jiannis, Bourque Guillaume, Alghamdi Jahad, Aljawini Nora, Albesher Nour, Al-Afghani Hani M, Alghamdi Bader, Almutair Mansour S, Mahmoud Ebrahim Sabri, Abu-Safieh Leen, El Bardisy Hadeel, Al Harthi Fawz S, Alshareef Abdulraheem, Suliman Bandar Ali, Alqahtani Saleh A, Almalik Abdulaziz, Alrashed May M, Massadeh Salam, Mooser Vincent, Lathrop Mark, Fawzy Mohamed, Arabi Yaseen M, Mbarek Hamdi, Saad Chadi, Al-Muftah Wadha, Jung Junghyun, Mangul Serghei, Badji Radja, Thani Asma Al, Ismail Said I, Gharavi Ali G, Abedalthagafi Malak S, Richards J Brent, Goldstein David B, Kiryluk Krzyszt |
|
The role of frontotemporal dementia associated genes in patients with Alzheimer's disease.
Neurobiology of aging 2021 May . Xiao Xuewen, Yuan Zhenhua, Guo Lina, Liao Xinxin, Zhou Yafang, Zhang Weiwei, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Wang Junling, Li Jinchen, Shen Lu, Jiao B |
|
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 |
|
Assessment of ANG variants in Parkinson's disease.
Neurobiology of aging 2021 Mar . Grenn Francis P, Moore Anni, Bandres-Ciga Sara, Krohn Lynne, Blauwendraat Cornelis, |
|
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 |
|
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
International journal of molecular sciences 2021 Feb 22 (5): . Kuehlewein Laura, Zobor Ditta, Stingl Katarina, Kempf Melanie, Nasser Fadi, Bernd Antje, Biskup Saskia, Cremers Frans P M, Khan Muhammad Imran, Mazzola Pascale, Schäferhoff Karin, Heinrich Tilman, Haack Tobias B, Wissinger Bernd, Zrenner Eberhart, Weisschuh Nicole, Kohl Susan |
|
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 |
|
A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Blood advances 2021 07 5 (14): 2839-2851. Rampersaud Evadnie, Kang Guolian, Palmer Lance E, Rashkin Sara R, Wang Shuoguo, Bi Wenjian, Alberts Nicole M, Anghelescu Doralina, Barton Martha, Birch Kirby, Boulos Nidal, Brandow Amanda M, Brooke Russell John, Chang Ti-Cheng, Chen Wenan, Cheng Yong, Ding Juan, Easton John, Hodges Jason R, Kanne Celeste K, Levy Shawn, Mulder Heather, Patel Ashwin P, Puri Latika, Rosencrance Celeste, Rusch Michael, Sapkota Yadav, Sioson Edgar, Sharma Akshay, Tang Xing, Thrasher Andrew, Wang Winfred, Yao Yu, Yasui Yutaka, Yergeau Donald, Hankins Jane S, Sheehan Vivien A, Downing James R, Estepp Jeremie H, Zhang Jinghui, DeBaun Michael, Wu Gang, Weiss Mitchell |
|
Identification of Two Novel Candidate Genetic Variants Associated With the Responsiveness to Influenza Vaccination.
Frontiers in immunology 2021 12 664024. Wen Simin, Wei Hejiang, Liao Qijun, Li Mao, Zhong Shuyi, Cheng Yanhui, Huang Weijuan, Wang Dayan, Shu Yuelo |
|
The Presence of Genomic Instability in Cerebrospinal Fluid in Patients with Meningeal Metastasis.
Cancer management and research 2021 13 4853-4863. Wang Peng, Zhang Henghui, Chen Peng, Sun Zengfeng, Zhang Zhen, Yin Qiang, Sun Huaibo, Yu Jin |
- Page last reviewed:Oct 1, 2020
- Page last updated:Sep 23, 2021
- Content source: