Works matching IS 03406717 AND DT 2025 AND VI 144 AND IP 1

Results: 7

A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 67, doi. 10.1007/s00439-024-02721-x

By:

Tedja, Milly S.;
Swierkowska-Janc, Joanna;
Enthoven, Clair A.;
Meester-Smoor, Magda A.;
Hysi, Pirro G.;
Felix, Janine F.;
Cowan, Cameron S.;
Cherry, Timothy J.;
van der Spek, Peter J.;
Ghanbari, Mohsen;
Erkeland, Stefan J.;
Barakat, Tahsin Stefan;
Klaver, Caroline C. W.;
Verhoeven, Virginie J. M.

Publication type:

Article

Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 93, doi. 10.1007/s00439-024-02719-5

By:

Mutai, Hideki;
Miya, Fuyuki;
Nara, Kiyomitsu;
Yamamoto, Nobuko;
Inoue, Satomi;
Murakami, Haruka;
Namba, Kazunori;
Shitara, Hiroshi;
Minami, Shujiro;
Nakano, Atsuko;
Arimoto, Yukiko;
Morimoto, Noriko;
Kawasaki, Taiji;
Wasano, Koichiro;
Fujioka, Masato;
Uchida, Yasue;
Kaga, Kimitaka;
Yamazawa, Kazuki;
Kikkawa, Yoshiaki;
Kosaki, Kenjiro

Publication type:

Article

Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 43, doi. 10.1007/s00439-024-02717-7

By:

Cai, Xuehong;
Li, Haochang;
Cao, Xiaoxiao;
Ma, Xinyan;
Zhu, Wenhao;
Xu, Lei;
Yang, Sheng;
Yu, Rongbin;
Huang, Peng

Publication type:

Article

Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 31, doi. 10.1007/s00439-024-02714-w

By:

Zhao, Qi-Gang;
Ma, Xin-Ling;
Xu, Qian;
Song, Zi-Tong;
Bu, Fan;
Li, Kuan;
Han, Bai-Xue;
Yan, Shan-Shan;
Zhang, Lei;
Luo, Yuan;
Pei, Yu-Fang

Publication type:

Article

T1R2/T1R3 polymorphism affects sweet and fat perception: Correlation between SNP and BMI in the context of obesity development.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 15, doi. 10.1007/s00439-024-02690-1

By:

Ponnusamy, Vinithra;
Subramanian, Gowtham;
Vasanthakumar, Keerthana;
Muthuswamy, Karthi;
Panneerselvan, Prabha;
Krishnan, Vasanth;
Subramaniam, Selvakumar

Publication type:

Article

The obesity-related mutation gene on nonalcoholic fatty liver disease.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 1, doi. 10.1007/s00439-024-02686-x

By:

Chen, Yen-Yu;
Chen, Chi-Sheng;
Huang, Jee-Fu;
Su, Wen-Hsiu;
Li, Chia-Yang;
Chen, Wei-Shiun;
Lin, En-Sheng;
Chuang, Wan-Long;
Yu, Ming-Lung;
Wang, Shu-Chi

Publication type:

Article

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Published in:

Human Genetics, 2025, v. 144, n. 1, p. 55, doi. 10.1007/s00439-024-02718-6

By:

Kakar, Naseebullah;
Mascarenhas, Selinda;
Ali, Asmat;
Azmatullah;
Ijlal Haider, Syed M.;
Badiger, Vaishnavi Ashok;
Ghofrani, Mobina Shadman;
Kruse, Nathalie;
Hashmi, Sohana Nadeem;
Pozojevic, Jelena;
Balachandran, Saranya;
Toft, Mathias;
Malik, Sajid;
Händler, Kristian;
Fatima, Ambrin;
Iqbal, Zafar;
Shukla, Anju;
Spielmann, Malte;
Radhakrishnan, Periyasamy

Publication type:

Article