Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 6

Results: 10

Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 809, doi. 10.1007/s00439-023-02562-0

By:

Dang, Xinglun;
Song, Meng;
Lv, Luxian;
Yang, Yongfeng;
Luo, Xiong-Jian

Publication type:

Article

Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 705, doi. 10.1007/s00439-023-02561-1

By:

Hunt, John Murray Topp;
Samson, Christopher Allan;
Rand, Alex du;
Sheppard, Hilary M.

Publication type:

Article

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 785, doi. 10.1007/s00439-023-02547-z

By:

Leone, Maria Pia;
Morlino, Silvia;
Nardella, Grazia;
Pracella, Riccardo;
Giachino, Daniela;
Celli, Luca;
Baldo, Demetrio;
Turolla, Licia;
Piccione, Maria;
Salzano, Emanuela;
Busè, Martina;
Lastella, Patrizia;
Zollino, Marcella;
Cantone, Rachele;
Grosso, Enrico;
Zonta, Andrea;
Pasini, Barbara;
Piscopo, Carmelo;
De Maggio, Ilaria;
Priolo, Manuela

Publication type:

Article

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 819, doi. 10.1007/s00439-023-02559-9

By:

Tollefson, Mallory R.;
Gogal, Rose A.;
Weaver, A. Monique;
Schaefer, Amanda M.;
Marini, Robert J.;
Azaiez, Hela;
Kolbe, Diana L.;
Wang, Donghong;
Weaver, Amy E.;
Casavant, Thomas L.;
Braun, Terry A.;
Smith, Richard J. H.;
Schnieders, Michael J.

Publication type:

Article

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1

By:

Lecoquierre, François;
Quenez, Olivier;
Fourneaux, Steeve;
Coutant, Sophie;
Vezain, Myriam;
Rolain, Marion;
Drouot, Nathalie;
Boland, Anne;
Olaso, Robert;
Meyer, Vincent;
Deleuze, Jean-François;
Dabbagh, Dana;
Gilles, Isabelle;
Gayet, Claire;
Saugier-Veber, Pascale;
Goldenberg, Alice;
Guerrot, Anne-Marie;
Nicolas, Gaël

Publication type:

Article

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 721, doi. 10.1007/s00439-023-02550-4

By:

Zemet, Roni;
Du, Haowei;
Gambin, Tomasz;
Lupski, James R.;
Liu, Pengfei;
Stankiewicz, Paweł

Publication type:

Article

Predicting ExWAS findings from GWAS data: a shorter path to causal genes.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 749, doi. 10.1007/s00439-023-02548-y

By:

Liang, Kevin Y. H.;
Farjoun, Yossi;
Forgetta, Vincenzo;
Chen, Yiheng;
Yoshiji, Satoshi;
Lu, Tianyuan;
Richards, J. Brent

Publication type:

Article

ADGB variants cause asthenozoospermia and male infertility.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 735, doi. 10.1007/s00439-023-02546-0

By:

Qu, Ronggui;
Zhang, Zhihua;
Wu, Ling;
Li, Qun;
Mu, Jian;
Zhao, Lin;
Yan, Zheng;
Wang, Wenjing;
Zeng, Yang;
Liu, Ruyi;
Dong, Jie;
Li, Qiaoli;
Sun, Xiaoxi;
Wang, Lei;
Sang, Qing;
Chen, Biaobang;
Kuang, Yanping

Publication type:

Article

Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 759, doi. 10.1007/s00439-023-02554-0

By:

He, Yong-Qiao;
Luo, Lu-Ting;
Wang, Tong-Min;
Xue, Wen-Qiong;
Yang, Da-Wei;
Li, Dan-Hua;
Diao, Hua;
Xiao, Ruo-Wen;
Deng, Chang-Mi;
Zhang, Wen-Li;
Liao, Ying;
Wu, Yan-Xia;
Wang, Qiao-Ling;
Zhou, Ting;
Li, Xi-Zhao;
Zheng, Xiao-Hui;
Zhang, Pei-Fen;
Zhang, Shao-Dan;
Hu, Ye-Zhu;
Sun, Ying

Publication type:

Article

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing.

Published in:

Human Genetics, 2023, v. 142, n. 6, p. 835, doi. 10.1007/s00439-023-02545-1

By:

Huang, Ruibin;
Fu, Fang;
Zhou, Hang;
Zhang, Lu;
Lei, Tingying;
Cheng, Ken;
Yan, Shujuan;
Guo, Fei;
Wang, You;
Ma, Chunling;
Li, Ru;
Yu, Qiuxia;
Deng, Qiong;
Li, Lushan;
Yang, Xin;
Han, Jin;
Li, Dongzhi;
Liao, Can

Publication type:

Article