Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 2

Results: 12

Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 193, doi. 10.1007/s00439-022-02505-1

By:

Liu, Yuqing;
Zhao, Shuai;
Chen, Xiaolei;
Bian, Yuehong;
Cao, Yongzhi;
Xu, Peiwen;
Zhang, Changming;
Zhang, Jiangtao;
Zhao, Shigang;
Zhao, Han

Publication type:

Article

The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 305, doi. 10.1007/s00439-022-02503-3

By:

Lucas-Sánchez, Marcel;
Fadhlaoui-Zid, Karima;
Comas, David

Publication type:

Article

Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 275, doi. 10.1007/s00439-022-02502-4

By:

Wu, Yiming;
Bayrak, Cigdem Sevim;
Dong, Bosi;
He, Shixu;
Stenson, Peter D.;
Cooper, David N.;
Itan, Yuval;
Chen, Lei

Publication type:

Article

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 245, doi. 10.1007/s00439-022-02500-6

By:

Fan, Cong;
Chen, Ken;
Wang, Yukai;
Ball, Edward V.;
Stenson, Peter D.;
Mort, Matthew;
Bacolla, Albino;
Kehrer-Sawatzki, Hildegard;
Tainer, John A.;
Cooper, David N.;
Zhao, Huiying

Publication type:

Article

Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 289, doi. 10.1007/s00439-022-02504-2

By:

Tang, Honghai;
Wang, Hui;
Wang, Shengyi;
Hu, Shao Wei;
Lv, Jun;
Xun, Mengzhao;
Gao, Kaiyu;
Wang, Fang;
Chen, Yuxin;
Wang, Daqi;
Wang, Wuqing;
Li, Huawei;
Shu, Yilai

Publication type:

Article

Reply to Letter about whole genome sequencing in newborns.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 165, doi. 10.1007/s00439-022-02499-w

By:

Lantos, John;
Janvier, Annie;
Barrington, Keith

Publication type:

Article

Re: "Next generation sequencing in neonatology: what does it mean for the next generation?".

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 161, doi. 10.1007/s00439-022-02498-x

By:

Wojcik, Monica H.;
Fishler, Kristen P.;
Chaudhari, Bimal P.

Publication type:

Article

Common genetic risk factors in ASD and ADHD co-occurring families.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 217, doi. 10.1007/s00439-022-02496-z

By:

Zhou, Anbo;
Cao, Xiaolong;
Mahaganapathy, Vaidhyanathan;
Azaro, Marco;
Gwin, Christine;
Wilson, Sherri;
Buyske, Steven;
Bartlett, Christopher W.;
Flax, Judy F.;
Brzustowicz, Linda M.;
Xing, Jinchuan

Publication type:

Article

Genome-wide analyses of early-onset acute myocardial infarction identify 29 novel loci by whole genome sequencing.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 231, doi. 10.1007/s00439-022-02495-0

By:

Jeon, Yeonsu;
Jeon, Sungwon;
Choi, Whan-Hyuk;
An, Kyungwhan;
Choi, HanSol;
Kim, Byoung-Chul;
Kim, Weon;
Lee, Sang Yeob;
Bae, Jang-Whan;
Hwang, Jin-Yong;
Kang, Min Gyu;
Kim, Yeonkyung;
Kang, Younghui;
Kim, Yeo Jin;
Kim, Byung Chul;
Bhak, Jong;
Shin, Eun-Seok

Publication type:

Article

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 201, doi. 10.1007/s00439-022-02494-1

By:

Ding, Qiliang;
Somerville, Cherith;
Manshaei, Roozbeh;
Trost, Brett;
Reuter, Miriam S.;
Kalbfleisch, Kelsey;
Stanley, Kaitlin;
Okello, John B. A.;
Hosseini, S. Mohsen;
Liston, Eriskay;
Curtis, Meredith;
Zarrei, Mehdi;
Higginbotham, Edward J.;
Chan, Ada J. S.;
Engchuan, Worrawat;
Thiruvahindrapuram, Bhooma;
Scherer, Stephen W.;
Kim, Raymond H.;
Jobling, Rebekah K.

Publication type:

Article

The matrilineal ancestry of Nepali populations.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 167, doi. 10.1007/s00439-022-02488-z

By:

Basnet, Rajdip;
Rai, Niraj;
Tamang, Rakesh;
Awasthi, Nagendra Prasad;
Pradhan, Isha;
Parajuli, Pawan;
Kashyap, Deepak;
Reddy, Alla Govardhan;
Chaubey, Gyaneshwer;
Das Manandhar, Krishna;
Shrestha, Tilak Ram;
Thangaraj, Kumarasamy

Publication type:

Article

Genome screening, reporting, and genetic counseling for healthy populations.

Published in:

Human Genetics, 2023, v. 142, n. 2, p. 181, doi. 10.1007/s00439-022-02480-7

By:

Casalino, Selina;
Frangione, Erika;
Chung, Monica;
MacDonald, Georgia;
Chowdhary, Sunakshi;
Mighton, Chloe;
Faghfoury, Hanna;
Bombard, Yvonne;
Strug, Lisa;
Pugh, Trevor J.;
Simpson, Jared;
Arnoldo, Saranya;
Aujla, Navneet;
Bearss, Erin;
Binnie, Alexandra;
Borgundvaag, Bjug;
Chertkow, Howard;
Clausen, Marc;
Dagher, Marc;
Devine, Luke

Publication type:

Article