Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 3

Results: 15

Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 357, doi. 10.1007/s00439-024-02650-9

By:

Cao, Lili;
He, Xinmiao;
Ren, Jiayi;
Wen, Canxin;
Guo, Ting;
Yang, Fan;
Qin, Yingying;
Chen, Zi-Jiang;
Zhao, Shidou;
Yang, Yajuan

Publication type:

Article

The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 401, doi. 10.1007/s00439-024-02659-0

By:

Wang, Zhonghua;
Fu, Guangping;
Ma, Guanju;
Wang, Chunyan;
Wang, Qian;
Lu, Chaolong;
Fu, Lihong;
Zhang, Xiaojing;
Cong, Bin;
Li, Shujin

Publication type:

Article

A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 371, doi. 10.1007/s00439-024-02658-1

By:

Liu, Xueyuan;
Yang, Chengliang;
Chen, Xiaohui;
Han, Xiaolong;
Liu, Hong;
Zhang, Xingkun;
Xu, Quyi;
Yang, Xingyi;
Liu, Changhui;
Chen, Ling;
Liu, Chao

Publication type:

Article

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3

By:

Iwata-Otsubo, Aiko;
Skraban, Cara M.;
Yoshimura, Atsunori;
Sakata, Toyonori;
Alves, Cesar Augusto P.;
Fiordaliso, Sarah K.;
Kuroda, Yukiko;
Vengoechea, Jaime;
Grochowsky, Angela;
Ernste, Paige;
Lulis, Lauren;
Nesbitt, Addie;
Tayoun, Ahmad Abou;
Gray, Christopher;
Towne, Meghan C.;
Radtke, Kelly;
Normand, Elizabeth A.;
Rhodes, Lindsay;
Seiler, Christoph;
Shirahige, Katsuhiko

Publication type:

Article

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4

By:

Herbst, Charlotte;
Bothe, Viktoria;
Wegler, Meret;
Axer-Schaefer, Susanne;
Audebert-Bellanger, Séverine;
Gecz, Jozef;
Cogne, Benjamin;
Feldman, Hagit Baris;
Horn, Anselm H. C.;
Hurst, Anna C. E.;
Kelly, Melissa A.;
Kruer, Michael C.;
Kurolap, Alina;
Laquerriere, Annie;
Li, Megan;
Mark, Paul R.;
Morawski, Markus;
Nizon, Mathilde;
Pastinen, Tomi;
Polster, Tilman

Publication type:

Article

Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 385, doi. 10.1007/s00439-024-02653-6

By:

Song, Yingdong;
Shen, Tao;
Sun, Huihui;
Wang, Xiangting

Publication type:

Article

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 293, doi. 10.1007/s00439-024-02652-7

By:

Wang, Hongyang;
Guan, Liping;
Wu, Xiaonan;
Guan, Jing;
Li, Jin;
Li, Nan;
Wu, Kaili;
Gao, Ya;
Bing, Dan;
Zhang, Jianguo;
Lan, Lan;
Shi, Tao;
Li, Danyang;
Wang, Wenjia;
Xie, Linyi;
Xiong, Fen;
Shi, Wei;
Zhao, Lijian;
Wang, Dayong;
Yin, Ye

Publication type:

Article

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2

By:

Brooks, Daniel;
Burke, Elizabeth;
Lee, Sukyeong;
Eble, Tanya N.;
O'Leary, Melanie;
Osei-Owusu, Ikeoluwa;
Rehm, Heidi L.;
Dhar, Shweta U.;
Emrick, Lisa;
Bick, David;
Nehrebecky, Michelle;
Macnamara, Ellen;
Casas-Alba, Dídac;
Armstrong, Judith;
Prat, Carolina;
Martínez-Monseny, Antonio F.;
Palau, Francesc;
Liu, Pengfei;
Adams, David;
Lalani, Seema

Publication type:

Article

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 311, doi. 10.1007/s00439-024-02649-2

By:

Redfield, Shelby E.;
De-la-Torre, Pedro;
Zamani, Mina;
Wang, Hanjun;
Khan, Hina;
Morris, Tyler;
Shariati, Gholamreza;
Karimi, Majid;
Kenna, Margaret A.;
Seo, Go Hun;
Xu, Hongen;
Lu, Wei;
Naz, Sadaf;
Galehdari, Hamid;
Indzhykulian, Artur A.;
Shearer, A. Eliot;
Vona, Barbara

Publication type:

Article

Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 263, doi. 10.1007/s00439-024-02647-4

By:

Oxman, Elias;
Li, Huili;
Wang, Hong-Yan;
Zohn, Irene E.

Publication type:

Article

STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 343, doi. 10.1007/s00439-024-02646-5

By:

Lv, Jinjuan;
Liu, Xiaoqian;
Sun, Zhiwei;
Gao, Jianfeng;
Yu, Xiaoqi;
Zhang, Mengyan;
Zhang, Zhenyu;
Ren, Shuangyi;
Zuo, Yunfei

Publication type:

Article

PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 331, doi. 10.1007/s00439-024-02645-6

By:

Zeng, Bing;
Liu, Dong Cheng;
Huang, Jian Guo;
Xia, Xiao Bo;
Qin, Bo

Publication type:

Article

Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)<sub>n</sub> insertion in spinocerebellar ataxia type 37.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 211, doi. 10.1007/s00439-024-02644-7

By:

Sanchez-Flores, Marina;
Corral-Juan, Marc;
Gasch-Navalón, Esther;
Cirillo, Davide;
Sanchez, Ivelisse;
Matilla-Dueñas, Antoni

Publication type:

Article

An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 423, doi. 10.1007/s00439-024-02643-8

By:

Parra-Perez, Alberto M.;
Gallego-Martinez, Alvaro;
Lopez-Escamez, Jose A.

Publication type:

Article

The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 233, doi. 10.1007/s00439-024-02642-9

By:

O'Brien, Claire L.;
Summers, Kim M.;
Martin, Natalia M.;
Carter-Cusack, Dylan;
Yang, Yuanhao;
Barua, Rasel;
Dixit, Ojas V. A.;
Hume, David A.;
Pavli, Paul

Publication type:

Article