Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
Vollger, Mitchell R., Logsdon, Glennis A., Audano, Peter A., Sulovari, Arvis, Porubsky, David, Peluso, Paul, Wenger, Aaron M., Concepcion, Gregory T., Kronenberg, Zev N., Munson, Katherine M., Baker, Carl, Sanders, Ashley D., Spierings, Diana C.J., Lansdorp, Peter M., Surti, Urvashi, Hunkapiller, Michael W., Eichler, Evan E.
Published in Annals of human genetics (01.03.2020)
Published in Annals of human genetics (01.03.2020)
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Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease
Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak‐Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.
Published in Annals of human genetics (01.03.2010)
Published in Annals of human genetics (01.03.2010)
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The role of genetics and epigenetics in the pathogenesis of gestational diabetes mellitus
Rosik, Jakub, Szostak, Bartosz, Machaj, Filip, Pawlik, Andrzej
Published in Annals of human genetics (01.03.2020)
Published in Annals of human genetics (01.03.2020)
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Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
Usifo, Ebele, Leigh, Sarah E. A., Whittall, Ros A., Lench, Nicholas, Taylor, Alison, Yeats, Corin, Orengo, Christine A., Martin, Andrew C. R., Celli, Jacopo, Humphries, Steve E.
Published in Annals of human genetics (01.09.2012)
Published in Annals of human genetics (01.09.2012)
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Histone modification: Biomarkers and potential therapies in colorectal cancer
An, Xin, Lan, Xiaohua, Feng, Zizhen, Li, Xiaohong, Su, Qisheng
Published in Annals of human genetics (01.11.2023)
Published in Annals of human genetics (01.11.2023)
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Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study
Liu, Yi‐Shian, Lin, Yu‐Chun, Lin, Meng‐Chih, Wu, Chao‐Chien, Wang, Tsu‐Nai
Published in Annals of human genetics (01.07.2024)
Published in Annals of human genetics (01.07.2024)
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DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella
Sha, Yanwei, Wei, Xiaoli, Ding, Lu, Mei, Libin, Huang, Xianjing, Lin, Shaobin, Su, Zhiying, Kong, Lingyuan, Zhang, Yi, Ji, Zhiyong
Published in Annals of human genetics (01.05.2020)
Published in Annals of human genetics (01.05.2020)
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Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment
Khabou, Boudour, Kallabi, Fakhri, Abdelaziz, Rim Ben, Maaloul, Ines, Aloulou, Hajer, Chehida, Amel ben, Kammoun, Thouraya, Barbu, Veronique, Boudawara, Tahya Sellami, Fakhfakh, Faiza, Khemakhem, Bassem, Sahnoun, Olfa Siala
Published in Annals of human genetics (01.05.2024)
Published in Annals of human genetics (01.05.2024)
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Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families
Lin, Binbin, Pan, Li, He, Huijing, Hu, Yaoda, Tu, Ji, Zhang, Ling, Cui, Ze, Ren, Xiaolan, Wang, Xianghua, Nai, Jing, Shan, Guangliang
Published in Annals of human genetics (06.09.2024)
Published in Annals of human genetics (06.09.2024)
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NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing
Bækgaard, Caroline Hey, Lester, Emilie Boye, Møller‐Larsen, Steffen, Lauridsen, Mathilde Faurholdt, Larsen, Martin Jakob
Published in Annals of human genetics (01.09.2024)
Published in Annals of human genetics (01.09.2024)
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Attention‐deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2‐repeat allele
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Published in Annals of human genetics (01.09.2024)
Published in Annals of human genetics (01.09.2024)
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Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer
Türkel, Alper, Onur, Ilknur Deliktaş, Anik, Hicran, Öner, Irem, Erdem, Haktan Bağiş, Bahsi, Taha, Özalp, Özge, Öksüzoğlu, Berna, Ateş, Öztürk, Karaçin, Cengiz
Published in Annals of human genetics (29.08.2024)
Published in Annals of human genetics (29.08.2024)
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The molecular basis of lactase persistence: Linking genetics and epigenetics
Cohen, Céleste E., Swallow, Dallas M., Walker, Catherine
Published in Annals of human genetics (22.08.2024)
Published in Annals of human genetics (22.08.2024)
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Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia
Yadegari, Mehran, Zare‐Feyzabadi, Reza, Zakariaeiseraji, Mohanna, Sahebi, Reza, Shabani, Niloofar, Khedmatgozar, Hamed, Ferns, Gordon A., Ghazizadeh, Hamideh, Mohammadi‐Bajgiran, Maryam, Jalalian, Melika, Zoghi, Mohadese, Darban, Reza Assaran, Mohammadian‐Ghosooni, Mahdi, Esmaily, Habibollah, Avan, Amir, Ghayour‐Mobarhan, Majid
Published in Annals of human genetics (01.01.2022)
Published in Annals of human genetics (01.01.2022)
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