Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 3

Results: 12

Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 445, doi. 10.1007/s00439-023-02520-w
By:
- Chen, Qiong;
- Yang, Xuexi;
- Huang, Weilun;
- Li, Ziyan;
- Xu, Mingli;
- Li, Yang;
- Tao, Fangchao;
- Huang, Zhengyi;
- Yang, Xu;
- Zhao, Xuefeng;
- Jiang, Linxiao;
- Zhou, Wanjun
Publication type:
Article
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 457, doi. 10.1007/s00439-022-02518-w
By:
- Jarayseh, Tamara;
- Guillemyn, Brecht;
- De Saffel, Hanna;
- Bek, Jan Willem;
- Syx, Delfien;
- Symoens, Sofie;
- Gansemans, Yannick;
- Van Nieuwerburgh, Filip;
- Jagadeesh, Sujatha;
- Raja, Jayarekha;
- Malfait, Fransiska;
- Coucke, Paul J.;
- De Clercq, Adelbert;
- Willaert, Andy
Publication type:
Article
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 419, doi. 10.1007/s00439-022-02517-x
By:
- Li, Xiaohong;
- Huang, Shasha;
- Wang, Guojian;
- Kang, Dongyang;
- Han, Mingyu;
- Wu, Xiedong;
- Yang, Jinyuan;
- Zheng, Qiuchen;
- Zhao, Chaoyue;
- Yuan, Yongyi;
- Dai, Pu
Publication type:
Article
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 407, doi. 10.1007/s00439-022-02516-y
By:
- Huang, Ruibin;
- Zhou, Hang;
- Ma, Chunling;
- Fu, Fang;
- Cheng, Ken;
- Wang, You;
- Li, Ru;
- Lei, Tingying;
- Yu, Qiuxia;
- Wang, Dan;
- Yan, Shujuan;
- Yang, Xin;
- Li, Dongzhi;
- Liao, Can
Publication type:
Article
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 399, doi. 10.1007/s00439-022-02513-1
By:
- Almannai, Mohammed;
- AlAbdi, Lama;
- Maddirevula, Sateesh;
- Alotaibi, Maha;
- Alsaleem, Badr M.;
- Aljadhai, Yaser I.;
- Alsaif, Hessa S.;
- Abukhalid, Musaad;
- Alkuraya, Fowzan S
Publication type:
Article
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 321, doi. 10.1007/s00439-022-02512-2
By:
- Luca, Stephanie;
- Clausen, Marc;
- Shaw, Angela;
- Lee, Whiwon;
- Krishnapillai, Suvetha;
- Adi-Wauran, Ella;
- Faghfoury, Hanna;
- Costain, Gregory;
- Jobling, Rebekah;
- Aronson, Melyssa;
- Liston, Eriskay;
- Silver, Josh;
- Shuman, Cheryl;
- Chad, Lauren;
- Hayeems, Robin Z.;
- Bombard, Yvonne;
- the Genetics Navigator Study Team;
- Bernier, Francois;
- Brudno, Michael;
- Carroll, June C.
Publication type:
Article
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 379, doi. 10.1007/s00439-022-02511-3
By:
- Smits, Daphne J.;
- Dekker, Jordy;
- Schot, Rachel;
- Tabarki, Brahim;
- Alhashem, Amal;
- Demmers, Jeroen A. A.;
- Dekkers, Dick H. W.;
- Romito, Antonio;
- van der Spek, Peter J.;
- van Ham, Tjakko J.;
- Bertoli-Avella, Aida M.;
- Mancini, Grazia M. S.
Publication type:
Article
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 363, doi. 10.1007/s00439-022-02510-4
By:
- Dong, Zirui;
- Qian, Jicheng;
- Law, Tracy Sze Man;
- Chau, Matthew Hoi Kin;
- Cao, Ye;
- Xue, Shuwen;
- Tong, Steve;
- Zhao, Yilin;
- Kwok, Yvonne K.;
- Ng, Karen;
- Chan, David Yiu Leung;
- Chiu, Peter K.-F.;
- Ng, Chi-Fai;
- Chung, Cathy Hoi Sze;
- Mak, Jennifer Sze Man;
- Leung, Tak Yeung;
- Chung, Jacqueline Pui Wah;
- Morton, Cynthia C.;
- Choy, Kwong Wai
Publication type:
Article
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 351, doi. 10.1007/s00439-022-02509-x
By:
- Seaby, Eleanor G.;
- Thomas, N. Simon;
- Webb, Amy;
- Brittain, Helen;
- Taylor Tavares, Ana Lisa;
- Genomics England Consortium;
- Ambrose, J. C.;
- Arumugam, P;
- Bevers, R;
- Bleda, M;
- Boardman-Pretty, F;
- Boustred, C. R.;
- Brittain, H;
- Caulfield, M. J.;
- Chan, G. C.;
- Fowler, T;
- Giess, A;
- Hamblin, A;
- Henderson, S;
- Hubbard, T. J. P.
Publication type:
Article
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 331, doi. 10.1007/s00439-022-02508-y
By:
- McKibbin, Kyle;
- Shabani, Mahsa;
- Larmuseau, Maarten H. D.
Publication type:
Article
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 431, doi. 10.1007/s00439-022-02507-z
By:
- Chen, Mengya;
- Li, Si;
- Zhu, Ziwei;
- Dai, Chengguqiu;
- Hao, Xingjie
Publication type:
Article
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 343, doi. 10.1007/s00439-022-02497-y
By:
- Cesana, M.;
- Vaccaro, L.;
- Larsen, M. J.;
- Kibæk, M.;
- Micale, L.;
- Riccardo, S.;
- Annunziata, P.;
- Colantuono, C.;
- Di Filippo, L.;
- De Brasi, D.;
- Castori, M.;
- Fagerberg, C.;
- Acquaviva, F.;
- Cacchiarelli, D.
Publication type:
Article