Multi-factor regulatory network and different clusters in hypertrophic obstructive cardiomyopathy

by Xianyu Qin, Lei Huang, Sicheng Chen, Shaoxian Chen, Pengju Wen, Yueheng Wu, Jian Zhuang
Published 2021-08-01

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report

by Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu, Leping Shao
Published 2021-08-01

Characterization of DNA lesions associated with cell-free DNA by targeted deep sequencing

by Seung-Ho Shin, Woong-Yang Park, Donghyun Park
Published 2021-07-01

HELLS serves as a poor prognostic biomarker and its downregulation reserves the malignant phenotype in pancreatic cancer

by Feng-Jiao Wang, Yan-Hua Jing, Chien-Shan Cheng, Zhang-Qi Cao, Ju-Ying Jiao, Zhen Chen
Published 2021-07-01

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree

by Yan Zhang, Yiyi Shang, Luo Liu, Xiaoxue Ding, Haiyan Wu, Lijiang Li, Mingjie Pang
Published 2021-07-01

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

by Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman
Published 2021-07-01

Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly

by Wanxue Song, Hainan Cao, Dongfeng Zhang, Haiyan Xu, Qianqian Zhang, Zhaoguo Wang, Suyun Li, Weijing Wang, Wenchao Hu, Bingling Wang, Haiping Duan
Published 2021-07-01

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

by Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang, Prabhakar Kedar
Published 2021-07-01

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1

by Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian, Akio Koizumi
Published 2021-07-01

Profiling non-coding RNA levels with clinical classifiers in pediatric Crohn’s disease

by Ranjit Pelia, Suresh Venkateswaran, Jason D. Matthews, Yael Haberman, David J. Cutler, Jeffrey S. Hyams, Lee A. Denson, Subra Kugathasan
Published 2021-07-01

Novel method of real-time PCR-based screening for common fetal trisomies

by So Yeon Kim, Seung Mi Lee, Sun Min Kim, Byoung Jae Kim, Ja Nam Koo, Ig Hwan Oh, Sohee Oh, Chan-Wook Park, Jong Kwan Jun, Ji Hyae Lim, Hyun Mee Ryu, Joong Shin Park
Published 2021-07-01

CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

by Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J. Shen
Published 2021-07-01

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

by Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying
Published 2021-07-01

Somatic mutations in benign breast disease tissues and association with breast cancer risk

by Stacey J. Winham, Chen Wang, Ethan P. Heinzen, Aditya Bhagwate, Yuanhang Liu, Samantha J. McDonough, Melody L. Stallings-Mann, Marlene H. Frost, Robert A. Vierkant, Lori A. Denison, Jodi M. Carter, Mark E. Sherman, Derek C. Radisky, Amy C. Degnim, Julie M. Cunningham
Published 2021-07-01

Retinoblastoma genetics screening and clinical management

by Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad, Govindasamy Kumaramanickavel
Published 2021-07-01

Molecular profiling of basal cell carcinomas in young patients

by Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery, Roland Tomb
Published 2021-07-01

Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review

by Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, Shunsaku Takayanagi, Yu Teranishi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Taichi Kin, Hiroyuki Abe, Jun Mitsui, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Nobuhito Saito
Published 2021-08-01

Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome

by Ying Yu, Panli Tan, Zhenchao Zhuang, Zhejiong Wang, Linchao Zhu, Ruyi Qiu, Huaxi Xu
Published 2021-08-01

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

by Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao
Published 2021-08-01

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Published 2021-08-01