Works matching IS 10597794 AND DT 2025 AND VI 2025

Results: 16

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1725906

By:

Ranjbarnejad, Tayebeh;
Abolhassani, Hassan;
Sherkat, Roya;
Salehi, Mansoor;
Ranjbarnejad, Fatemeh;
Vatandoost, Nasimeh;
Sharifi, Mohammadreza;
Aziz, Aziz ur Rehman

Publication type:

Article

Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/8884636

By:

Tian, Rujin;
Li, Yixiao;
Zhong, Lin;
Zhang, Haozheng;
Gai, Zhongtao;
Wang, Dong;
Song, Li;
Zhang, Kaihui;
Macrae, Finlay

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1497712

By:

You, Qingqing;
Liu, Jingwei;
Zhang, Ran;
Wang, Zhi;
Zhang, Bingying;
Guo, Wencong;
Xu, Ning;
Bottillo, Irene;
Shao, Leping;
Aziz, Aziz ur Rehman

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7317429

By:

Yang, Mengyuan;
Tong, Ziyan;
Yuan, Zhijun;
Jiang, Bingjing;
Zhao, Yingxin;
Xu, Dong;
Yuan, Ying;
Macrae, Finlay

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6382674

By:

Sedghi, Maryam;
Gharehdaghi, Elika Esmaeilzadeh;
Ziaee, Vahid;
Abbasi, Farzaneh;
Meybodi, Hamid Reza Aghaei;
Smiley, Elina;
Mehdizadeh, Mehrzad;
Raeeskarami, Seyyed Reza;
Aslani, Nahid;
Shiran, Sahar Naderi;
Vafadar, Mehdi;
Amoli, Mahsa M.;
Aziz, Aziz ur Rehman

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6690588

By:

Wan, Yining;
Li, Jinqiu;
Guo, Yingyuan;
Guo, Fang;
Zhao, Ying;
Li, Yue;
Yang, Xia;
Chen, Huidan;
Xie, Shimin;
Wang, Mingyong;
Guan, Guofang;
Zhu, Yilong;
Li, Xiao;
Peng, Zhiyu

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/9951922

By:

Yan, Hong-Jun;
Wang, Peng-Yu;
Liu, Wen-Hui;
Gu, Yu-Jie;
Pan, Jia-Cheng;
Li, Hua;
Luo, Sheng;
Tsai, Meng-Che

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7730186

By:

Shen, Yiyang;
Fu, Shuang;
Liu, Xuan;
Liu, Jianing;
Fu, Yu;
Zhao, Yue;
Wang, Xinxin;
Jiang, Xujian;
Zhang, Jihong;
Aziz, Aziz ur Rehman

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/1443580

By:

Li, Yixiao;
Tian, Rujin;
Hei, Yu;
Zhang, Haozheng;
Yang, Yanan;
Lv, Yuqiang;
Zhou, Weiran;
Guo, Qingwei;
Niu, Beibei;
Li, Kaisheng;
Wang, Dong;
Xin, Hongmei;
Zhang, Kaihui;
Beroud, Christophe

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599

By:

Cordovado, Amélie;
Hérenger, Yvan;
Cormier, Coline;
López-Martín, Estrella;
Stamberger, Hannah;
Faivre, Laurence;
Denommé-Pichon, Anne-Sophie;
Vitobello, Antonio;
Abdallah, Hamza Hadj;
Barcia, Giulia;
Courtin, Thomas;
Martínez-Delgado, Beatriz;
Bermejo-Sánchez, Eva;
Barrero, María J.;
Gasser, Brooklynn;
Bezieau, Stéphane;
Küry, Sébastien;
Weckhuysen, Sarah;
Laumonnier, Frédéric;
Toutain, Annick

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6096758

By:

Khang, Rin;
Lee, Hane;
Kim, Jihye;
Moon, Dongseok;
Jang, Seokhui;
Lee, Eugene;
Song, Yongjun;
Ryu, Seung Woo;
Lee, Sohyun;
Han, Heonjong;
Kim, Sukwon;
Jang, Sohyun;
Sohn, Young Bae;
Kim, Won Seop;
Lee, Ji-Eun;
Kim, Juwon;
Cho, Yonggon;
Lee, Bo Lyun;
Lim, Han Hyuk;
Kook, Hoon

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6391770

By:

Wang, Haolin;
Wei, Bo;
Guo, Jiaxin;
Wu, Xiawei;
Zou, Tongdan;
Wang, Ting;
Zhang, Tiantian;
Gong, Bo;
Hao, Jilong;
Zhang, Houbin;
Wang, Le;
Aziz, Aziz ur Rehman

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7194418

By:

Xu, Yang;
Gao, Jie;
An, Yang;
Zou, Chenxi;
Ding, Guoqing;
Yang, Guohua;
Macrae, Finlay

Publication type:

Article

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6657400

By:

Ahting, Simone;
Popp, Denny;
Oppermann, Henry;
Strehlow, Vincent;
Fasshauer, Maria;
Popp, Bernt;
Karnstedt, Maike;
Schumann, Isabell;
Scott, Stuart

Publication type:

Article

Whole Genome Sequencing of "Mutation‐Negative" Individuals With Cornelia de Lange Syndrome.

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/4711663

By:

Ansari, Morad;
Halachev, Mihail;
Parry, David;
Campos, Jose L.;
D'Souza, Elston N.;
Barnett, Christopher;
Wilkie, Andrew O. M.;
Barnicoat, Angela;
Patel, Chirag V.;
Sukarova-Angelovska, Elena;
Girisha, Katta M.;
Firth, Helen V.;
Prescott, Katrina;
Wilson, Louise C.;
McEntagart, Meriel;
Davidson, Rosemarie;
Lynch, Sally Ann;
Joss, Shelagh;
Holden, Simon T.;
Lam, Wayne K.

Publication type:

Article

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

Published in:

Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/2250030

By:

Bychkov, Igor;
Filatova, Alexandra;
Baydakova, Galina;
Sikora, Nataliya;
Garifullina, Emiliya;
Bykova, Anna;
Tabakov, Vyacheslav;
Skretnev, Alexandr;
Skoblov, Mikhail;
Zakharova, Ekaterina;
Chen, Jian-Min

Publication type:

Article