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