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

Results: 12

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
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
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
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
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
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
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
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