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    2025
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Research Article
Open Access

Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis

Mikiko Soejima,  Yoshiro Koda, 
  • First Published: 23 July 2025
Research Article
Open Access

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci

Ummey Hany,  Christopher M. Watson,  Lu Liu,  Georgios Nikolopoulos,  Claire E. L. Smith,  James A. Poulter,  Agne Antanaviciute,  Alice Rigby,  Richard Balmer,  Catriona J. Brown,  Anesha Patel,  María Gabriela Acosta de Camargo,  Helen D. Rodd,  Michelle Moffat,  Gina Murillo,  Amal Mudawi,  Hussain Jafri,  Alan J. Mighell,  Chris F. Inglehearn, 
  • First Published: 22 July 2025
Research Article
Open Access

Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity

Shu Zhao,  Xiaojing Lin,  Yuying Huang,  Zhongmin Kang,  Huali Luo,  Qizhu Zhang,  Qinshan Li,  Mengxing Li, 
  • First Published: 15 July 2025
Research Article
Open Access

Bayesian Optimization–Enhanced Machine Learning for Osteosarcoma Risk Stratification Based on Sphingolipid Metabolism

Yujian Zhong,  Ruyuan He,  Zewen Jiang,  Queran Lin,  Fei Peng,  Wenyi Jin, 
  • First Published: 11 July 2025
Research Article
Open Access

Immune Dysregulation and Prognosis in Sepsis: Insights From a Posttranslational Perspective

Yifeng Ye,  Qiaoling Chen,  Dongjin Wu,  Gaojie Yu,  Jia’nan Liu,  Yang Li,  Zhihong Xu,  Liang Lin, 
  • First Published: 08 July 2025
Research Article
Open Access

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

Christina A. Eichstaedt,  Gabriel Maldonado-Velez,  Rajiv D. Machado,  Stefan Gräf,  Dennis Dooijes,  Srimmitha Balachandar,  Florence Coulet,  Kristina Day,  Melanie Eyries,  Daniela Macaya,  Memoona Shaukat,  Laura Southgate,  Jair Tenorio-Castano,  Wendy K. Chung,  Carrie L. Welch,  Micheala A. Aldred, 
  • First Published: 07 July 2025
Research Article
Open Access

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities

Jenifer S. Calvo,  Tomáš Heger,  Ekaterina Kabin,  William R. Mowrey,  Guillermo Del Angel,  Wei Ding,  Svetlana Lutsenko, 
  • First Published: 07 July 2025
Research Article
Open Access

Identification of Enzalutamide-Related Genes for Prognosis and Immunotherapy in Prostate Adenocarcinoma

Lian Fang,  Zongming Jia,  Tao Zou,  Ouyang Song,  Jun Ouyang,  Yufeng Hou,  Zhiyu Zhang,  Xuefeng Zhang, 
  • First Published: 04 July 2025
Research Article
Open Access

Management of Paediatric Cancers Associated With Bloom Syndrome

Camille Pacaud,  Charlotte Nazon,  Mélanie Pages,  Jérémie Rouger,  Pascale Berthet,  Sarah Winter,  Éric Thebault,  Cécile Faure-Conter,  Claire Berger,  Catherine Paillard, 
  • First Published: 03 July 2025
Research Article
Open Access

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers

Kristina Falkenstein,  Lukas Hoeren,  Frauke Kikul,  Gernot Poschet,  Christian Lüchtenborg,  Ines B. Brecht,  Ruth Falb,  Darja Gauck,  Tobias Haack,  Andreas Hecker,  Nastassja Himmelreich,  Jürgen G. Okun,  Britta Brügger,  Christian Thiel, 
  • First Published: 26 June 2025
Research Article
Open Access

Exploring Therapeutic Targets for Preventing Cardiac Arrest by Modulating Dyslipidemia and 25-Hydroxyvitamin D Metabolism: A Mendelian Randomization Study

Xinya Jia,  Keke Du,  Yuanting Zhu,  Liuyang Xie,  Tangjuan Zhang,  Liu Yang,  Yuepeng Hu,  Chao Lan,  Qiang Zhang, 
  • First Published: 19 June 2025
Research Article
Open Access

Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length

Mariusz Berdyński,  Krzysztof Safranow,  Peter M. Andersen,  Cezary Żekanowski, 
  • First Published: 16 June 2025
Research Article
Open Access

ACOCMPMI: An Ant Colony Optimization Algorithm Based on Composite Multiscale Part Mutual Information for Detecting Epistatic Interactions

Yan Sun,  Jing Wang,  Yaxuan Zhang,  Junliang Shang,  Jin-Xing Liu, 
  • First Published: 13 June 2025
Research Article
Open Access

Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review

Anastasia Ambrose,  Oana Caluseriu,  Saadet Mercimek-Andrews, 
  • First Published: 12 June 2025
Research Article
Open Access

EPHB1 Protein Promoted the Progression of Prostate Adenocarcinoma Through Phosphorylating GSK3B and Activating EPHB1-GSK3B-SMAD3 Pathway

Bohan Xu,  Shen Lin,  Kai Yang, 
  • First Published: 12 June 2025
Research Article
Open Access

A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground-Glass Nodule Patients

Yameng Li,  Qingxian Zhang, 
  • First Published: 11 June 2025
Research Article
Open Access

Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation

Yu Ding,  Xuejiao Yu,  Jian Xu,  Shunrong Zhang,  Jianhang Leng, 
  • First Published: 06 June 2025
Research Article
Open Access

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum

Elaine Zhang,  Teresa Zhao,  Tim Sikora,  Carolyn Ellaway,  Wendy A. Gold,  Nicole J. Van Bergen,  David A. Stroud,  John Christodoulou,  Simranpreet Kaur, 
  • First Published: 02 June 2025
Research Article
Open Access

M1 Macrophage is a Novel Potential Trigger for Endothelial Senescence: Role of Exosomal miR-155 Targeting SOCS1 Signal

Jiang He,  Bin Zhang,  Hufei Zhang,  Qiang Tu,  Xi Chen,  Yumin Qiu,  Zhefu Liu,  Wenhao Xia,  Xing Wu,  Jun Tao, 
  • First Published: 30 May 2025
Research Article
Open Access

A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant

Lulu Zhang,  Shaoyan Xi,  Lei Yuan,  Ziteng Li,  Xiaoyun Liu,  Jiamei Gu,  Shuo Li,  Liyun Huang,  Wanming Hu,  Lingyi Fu, 
  • First Published: 28 May 2025
Research Article
Open Access

Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric Analysis

Jun Pu,  Yamin Zhao,  Yu Wu,  Tianqi Wu,  Yue Ben,  Yuting Sun,  Jue Gu, 
  • First Published: 24 May 2025
Research Article
Open Access

Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations

Jianbin Li,  Zhuo Tang,  Lei Zhang,  Ning Tan,  Wei Liu, 
  • First Published: 16 May 2025
Research Article
Open Access

Single-Cell RNA-Seq Recognized Key Genes for Metastasis and Macrophage Infiltration in Colorectal Cancer

Juan Shi,  Peiming Zheng,  Libo Ouyang,  Facai Cui, 
  • First Published: 15 May 2025
Corrigendum
Open Access

Corrigendum to “Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients”

  • First Published: 15 May 2025

Research Article
Open Access

Single-Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer

Yinglei Liu,  Rui Geng,  Songyun Zhao,  Jinjin Yang,  Jinhui Liu,  Yanli Zheng,  Weichun Tang, 
  • First Published: 09 May 2025
Research Article
Open Access

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

Mariateresa Zanobio,  Francesca Nardecchia,  Gerarda Cappuccio,  Maria Elena Onore,  Pasquale Di Letto,  Sarah Iffat Rahman,  Gaetano Terrone,  Lorenzo Ugga,  Agnese De Giorgi,  Michele Dei Cas,  Marco Trinchera,  Vincenzo Leuzzi,  Giulio Piluso,  Vincenzo Nigro,  Nicola Brunetti-Pierri,  TUDP consortium ,  Annalaura Torella, 
  • First Published: 07 May 2025
Research Article
Open Access

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling

Titas Gladkauskas,  Ileana Cristea,  Roya Mehrasa,  Jean-Baptiste Demoulin,  Bjørn Tore Gjertsen,  Ove Bruland,  Eyvind Rødahl,  Cecilie Bredrup, 
  • First Published: 22 April 2025
Research Article
Open Access

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

Jun Kido,  Keishin Sugawara,  Sotiria Tavoulari,  Georgios Makris,  Véronique Rüfenacht,  Kimitoshi Nakamura,  Edmund R. S. Kunji,  Johannes Häberle, 
  • First Published: 22 April 2025
Review Article
Open Access

Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency

Tayebeh Ranjbarnejad,  Hassan Abolhassani,  Roya Sherkat,  Mansoor Salehi,  Fatemeh Ranjbarnejad,  Nasimeh Vatandoost,  Mohammadreza Sharifi, 
  • First Published: 15 April 2025
Research Article
Open Access

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma

Rujin Tian,  Yixiao Li,  Lin Zhong,  Haozheng Zhang,  Zhongtao Gai,  Dong Wang,  Li Song,  Kaihui Zhang, 
  • First Published: 02 April 2025
Research Article
Open Access

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

Qingqing You,  Jingwei Liu,  Ran Zhang,  Zhi Wang,  Bingying Zhang,  Wencong Guo,  Ning Xu,  Irene Bottillo,  Leping Shao, 
  • First Published: 01 April 2025
Research Article
Open Access

Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency

Thomas Krag,  Emily Nasho,  Lauren Brady,  Camille Verebi,  France Leturcq,  Edoardo Malfatti,  Morten Duno,  Mark Tarnopolsky,  John Vissing, 
  • First Published: 29 March 2025
Research Article
Open Access

Detection of Pathogenic Intronic Variants for COL4A5 Gene in X-Linked Alport Syndrome: Developing a Novel Methodology

Yixiao Li,  Rujin Tian,  Yu Hei,  Haozheng Zhang,  Yanan Yang,  Yuqiang Lv,  Weiran Zhou,  Qingwei Guo,  Beibei Niu,  Kaisheng Li,  Dong Wang,  Hongmei Xin,  Kaihui Zhang, 
  • First Published: 10 March 2025
Research Article
Open Access

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability

Amélie Cordovado,  Yvan Hérenger,  Coline Cormier,  Estrella López-Martín,  Hannah Stamberger,  Laurence Faivre,  Anne-Sophie Denommé-Pichon,  Antonio Vitobello,  Hamza Hadj Abdallah,  Giulia Barcia,  Thomas Courtin,  Beatriz Martínez-Delgado,  Eva Bermejo-Sánchez,  María J. Barrero,  Brooklynn Gasser,  Stéphane Bezieau,  Sébastien Küry,  Sarah Weckhuysen,  Frédéric Laumonnier,  Annick Toutain,  Marie-Laure Vuillaume, 
  • First Published: 05 March 2025
Research Article
Open Access

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program

Rin Khang,  Hane Lee,  Jihye Kim,  Dongseok Moon,  Seokhui Jang,  Eugene Lee,  Yongjun Song,  Seung Woo Ryu,  Sohyun Lee,  Heonjong Han,  Sukwon Kim,  Sohyun Jang,  Young Bae Sohn,  Won Seop Kim,  Ji-Eun Lee,  Juwon Kim,  Yonggon Cho,  Bo Lyun Lee,  Han Hyuk Lim,  Hoon Kook,  Ki-Soo Kang,  Soonhak Kwon,  Jiwon Lee,  Go Hun Seo,  Seung Hwan Oh,  Chong Kun Cheon, 
  • First Published: 27 February 2025
Research Article
Open Access

Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China

Yiyang Shen,  Shuang Fu,  Xuan Liu,  Jianing Liu,  Yu Fu,  Yue Zhao,  Xinxin Wang,  Xujian Jiang,  Jihong Zhang, 
  • First Published: 20 February 2025
Research Article
Open Access

A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations

Mengyuan Yang,  Ziyan Tong,  Zhijun Yuan,  Bingjing Jiang,  Yingxin Zhao,  Dong Xu,  Ying Yuan, 
  • First Published: 18 February 2025
Research Article
Open Access

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect

Maryam Sedghi,  Elika Esmaeilzadeh Gharehdaghi,  Vahid Ziaee,  Farzaneh Abbasi,  Hamid Reza Aghaei Meybodi,  Elina Smiley,  Mehrzad Mehdizadeh,  Seyyed Reza Raeeskarami,  Nahid Aslani,  Sahar Naderi Shiran,  Mehdi Vafadar,  Mahsa M. Amoli, 
  • First Published: 17 February 2025
Research Article
Open Access

Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models

Yining Wan,  Jinqiu Li,  Yingyuan Guo,  Fang Guo,  Ying Zhao,  Yue Li,  Xia Yang,  Huidan Chen,  Shimin Xie,  Mingyong Wang,  Guofang Guan,  Yilong Zhu,  Xiao Li, 
  • First Published: 14 February 2025
Research Article
Open Access

De Novo ACTB Variant Associated With Juvenile-Onset Temporal Lobe Epilepsy With Favorable Outcomes

Hong-Jun Yan,  Peng-Yu Wang,  Wen-Hui Liu,  Yu-Jie Gu,  Jia-Cheng Pan,  Hua Li,  Sheng Luo, 
  • First Published: 12 February 2025
Research Article
Open Access

Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome

Haolin Wang,  Bo Wei,  Jiaxin Guo,  Xiawei Wu,  Tongdan Zou,  Ting Wang,  Tiantian Zhang,  Bo Gong,  Jilong Hao,  Houbin Zhang,  Le Wang, 
  • First Published: 10 February 2025
Research Article
Open Access

Clinic Examination and Gene Diagnosis for a Birt–Hogg–Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation

Yang Xu,  Jie Gao,  Yang An,  Chenxi Zou,  Guoqing Ding,  Guohua Yang, 
  • First Published: 03 February 2025
Research Article
Open Access

Whole Genome Sequencing of “Mutation-Negative” Individuals With Cornelia de Lange Syndrome

Morad Ansari,  Mihail Halachev,  David Parry,  Jose L. Campos,  Elston N. D’Souza,  Christopher Barnett,  Andrew O. M. Wilkie,  Angela Barnicoat,  Chirag V. Patel,  Elena Sukarova-Angelovska,  Katta M. Girisha,  Helen V. Firth,  Katrina Prescott,  Louise C. Wilson,  Meriel McEntagart,  Rosemarie Davidson,  Sally Ann Lynch,  Shelagh Joss,  Simon T. Holden,  Wayne K. Lam,  Sanjay M. Sisodiya,  Andrew J. Green,  Gemma Poke,  Nicola Whiffin,  David R. FitzPatrick,  Alison Meynert, 
  • First Published: 30 January 2025
Research Article
Open Access

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

Simone Ahting,  Denny Popp,  Henry Oppermann,  Vincent Strehlow,  Maria Fasshauer,  Bernt Popp,  Maike Karnstedt,  Isabell Schumann, 
  • First Published: 30 January 2025
Research Article
Open Access

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients

Igor Bychkov,  Alexandra Filatova,  Galina Baydakova,  Nataliya Sikora,  Emiliya Garifullina,  Anna Bykova,  Vyacheslav Tabakov,  Alexandr Skretnev,  Mikhail Skoblov,  Ekaterina Zakharova, 
  • First Published: 10 January 2025