Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

• Katarína Kušíková
• Tzung-Chien Hsieh
• Mateja Pfeifer
• Christine Fauth
• Yoshiko Murakami
• Franco Laccone
• Daniela Karall
• Walter Bonfig
• Helen Stewart
• Denisa Weis

Circ-malat1 promotes gastric cell growth via miR-154-5p/CCND2

• Lina Li
• Liuqing Yang
• Yuzhen Wang
• Kejun Nan

Advancing artificial intelligence ethics in health and genomics: lessons from a public survey in South Korea

• Jungim Lee
• Wonhoo Yoo
• Hannah Kim

Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility

• Hongyan Li
• Yue Lin
• Weixu Ma
• Ting Yu
• Lingfeng Dong
• Yankun Chen
• Shuming Fan
• Guoqun Luo
• Jingwen Zhang
• Ge Song

Aerobic exercise-induced lactate production: a novel opportunity for remodeling the tumor microenvironment

• Xin Zhou
• Jinliang Jiang
• Jingjing Liu
• Qinglu Wang
• Ying Luo
• Liping Wu

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

• Haixia Zhang
• Jing Chen
• He Wang
• Qinqin Xiang
• Shanling Liu

The effect of different teaching models on improving nursing humanistic care competencies: a network meta-analysis

• Xiao Meixia
• Xiong Qin
• Jiang Rong
• Li Lingxia
• Fu Wenhao

Genome-wide identification of GATA family genes in sweet potato (Ipomoea batatas L.) and their expression patterns under abiotic stress

• Chong Wang
• Mengjiao Lan
• Manqiu Xiao
• Ying Peng
• Hao Pan
• Jiaqi Deng
• Wensheng Wu

Correction: A non-invasive method for screening mitochondrial diabetes

• Hangyu Fang
• Xiaoe Li
• Shuping Wang
• Mei Zhang
• Victor Wei Zhang
• Chao Xu

Retraction: EZH2-mediated microRNA-375 upregulation promotes progression of breast cancer via the inhibition of FOXO1 and the p53 signaling pathway

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders

• Chen Liang
• Haihong Shi
• Yanjuan Chen
• Xia Wang
• Jieyuan Jin
• Liqun Su
• Lijun Tang
• Huihong Li
• Fei Ling
• Haoxian Li

Comprehensive bioinformatics analysis of malignant transformation and potential therapeutic possibility of lung adenocarcinoma after lipopolysaccharide induction

• Wanjie Xu
• Jing Zhang
• Xinyu Zhang
• Xue Wang
• Yiluo Xie
• Shengping Min
• Xiaojing Wang
• Chaoqun Lian

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes

• Jingping Xu
• Baoyan Ren
• Qixun Fang
• Kangfeng Lin
• Xingan Xing
• Jingting Lin

Correction: Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing

• Simran Maggo
• Yachen Pan
• Dejerianne Ostrow
• Jenny Q. Nguyen
• Jaclyn A. Biegel
• Matthew A. Deardorff
• Xiaowu Gai

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review

• Liqing Jiang
• Jiaqi Li
• Aizhong Han
• Fei Hou
• Xiaotong Wei
• Yanjun Tian

A novel vasculogenic mimicry-related nomogram predicts prognosis in hepatocellular carcinoma

• Yun Zhong
• Fadian Ding
• Han Zhang
• Denghan Zhang
• Xiang Zhang
• Shangeng Weng

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders

• Simona Mellone
• Alice Spano
• Denise Vurchio
• Giulia Borgonovi
• Alessandro Ugonotti
• Giulia Paglino
• Alba Bianco
• Sara Ronzani
• Maurizio Sciancalepore
• Flavia Prodam

Identification and validation of DNA methylation-driven gene OSR1 as a novel tumor suppressor for the diagnosis and prognosis of breast cancer

• Jian Xu
• Biao Yang
• Ling Cheng
• Chen Gan
• Runze Huang
• Anlong Li
• Han Ge
• Longyu Hu
• Meiwen Ling
• Xinyi Zheng

Geometry-enhanced graph neural networks accelerate circRNA therapeutic target discovery

• Zhen Li
• Mingming Qi
• Juyuan Huang
• Wei Zhang
• Xu Tan
• Yifan Chen

Application of AI in the identification of gastrointestinal stromal tumors: a comprehensive analysis based on pathological, radiological, and genetic variation features

• Lei Zheng
• Dan-Wen Jin
• Hong-Wei Yu
• Ze Yu
• Li-Yong Qian

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

• Anna Bryzik
• Dawid Larysz
• Patrycja Larysz
• Julia Izabela Karpierz
• Justyna Paprocka

A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes

• Meiling Zhang
• Xiao Chang
• Xiaoyun Du
• Zhen Chen
• Xinyue Zhang
• Fucheng Cai

The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China

• Yanjun Wang
• Ya Yang
• Jingjing Wang
• Qian Han
• Nana Zhai
• Shufang Xiao

Case Report: Surgical management of primary lymphedema with a novel PROX1 mutation involving upper and lower limbs

• Junzhe Chen
• Liangliang Wang
• Xiangkui Wu
• Bihua Wu
• Hai Li
• Shune Xiao
• Chengliang Deng