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
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
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
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
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