Primary researchupdated Aug 05, 2020
Analysis of ACE2 Genetic Variants in 131 Italian SARS-CoV-2 Positive Patients
Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, and 7 more authors
Under Revision
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Primary researchupdated Aug 04, 2020
Mild dyserythropoiesis and b-like globin gene expression imbalance due to the loss of histone chaperone ASF1B
Petros Papadopoulos, Athanassia Kafasi, Iris de Cuyper, Vilma Barroca, Daniel Lewandowski, Zahra Kadri, Martijn Veldthuis, and 9 more authors
Under Revision
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Primary researchposted Jul 22, 2020
Genetic Aetiology of Primary Adrenal Insufficiency in Chinese Children
Zhuo Chang, Wei Lu, Zhu-Hui Zhao, Li Xi, Xiao-Jing Li, Rong Ye, Jin-Wen Ni, and 7 more authors
Under Review
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Primary researchposted Jul 22, 2020
Evaluation of a Genetic Risk Score for Severity of COVID-19 Using Human Chromosomal-scale Length Variation
Chris Toh, James Brody
Under Review
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Primary researchupdated Jun 18, 2020
Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study
Shigekazu Sugino, Daisuke Konno, Yosuke Kawai, Masao Nagasaki, Yasuhiro Endo, Tomo Hayase, Misako Yamazaki-Higuchi, and 8 more authors
Under Revision
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Primary researchposted Jun 09, 2020
Effects of Ninjurin 2 Polymorphisms on Susceptibility of Coronary Heart Disease
Yuping Yan, Xiaoyan Du, Xiaoxi liu, Jingjie Li, Zichao Xiong, Jiamin Wu, Yao Sun, and 1 more authors
Under Revision
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Primary researchposted Apr 21, 2020
Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Mandy Ho-Yin Tsang, Anna Ka-Yee Kwong, Kate Lok-San Chan, Jasmine Lee-Fong Fung, Mullin Ho-Chung Yu, Christopher Chun-Yu Mak, Kit-San Yeung, and 14 more authors
Under Review
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Primary researchupdated Apr 07, 2020
An investigation of genetic polymorphisms in Heparan Sulfate Proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population
Rachel K Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R Griffiths, Larisa M Haupt
Under Review
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Primary researchupdated Feb 07, 2020
Prenatal diagnosis and pregnancy determination of sex chromosome aneuploidy screened by non-invasive prenatal testing from 52,453 unselected singleton pregnancies: a retrospective analysis of 4-year experience
Xiaojin Luo, Liang Hu, Yuanyuan Pei, Xiaoyi Cong, Xiaoyi Liu, Jing Chen, Gaochi Li, and 4 more authors
Under Review
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Primary researchposted Jan 20, 2020
Novel Biallelic Loss-of-Function Variants in CEP290 Cause Joubert Syndrome in Two Siblings
Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu
Published
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