Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 4

Results: 10

Great expectations: patients' preferences for clinically significant results from genomic sequencing.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 553, doi. 10.1007/s00439-023-02543-3

By:

Shickh, Salma;
Sebastian, Agnes;
Clausen, Marc;
Mighton, Chloe;
Elser, Christine;
Eisen, Andrea;
Waldman, Larissa;
Panchal, Seema;
Ward, Thomas;
Carroll, June C.;
Glogowski, Emily;
Schrader, Kasmintan A.;
Lerner-Ellis, Jordan;
Kim, Raymond H.;
Thorpe, Kevin E.;
Bombard, Yvonne;
the Incidental Genomics Team members to be indexed in PubMed;
Armel, Susan R.;
Aronson, Melyssa;
Baxter, Nancy N.

Publication type:

Article

Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 507, doi. 10.1007/s00439-023-02542-4

By:

Yao, Xueming;
Yang, Hongxi;
Han, Han;
Kou, Xuejing;
Jiang, Yuhan;
Luo, Menghan;
Zhou, Yao;
Wang, Jianhua;
Fan, Xutong;
Wang, Xiaohong;
Li, Mulin Jun;
Yan, Hua

Publication type:

Article

VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 495, doi. 10.1007/s00439-023-02539-z

By:

Núñez-Moreno, Gonzalo;
Tamayo, Alejandra;
Ruiz-Sánchez, Carolina;
Cortón, Marta;
Mínguez, Pablo

Publication type:

Article

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 523, doi. 10.1007/s00439-023-02538-0

By:

Pinnaro, Catherina T.;
Beck, Chloe B.;
Major, Heather J.;
Darbro, Benjamin W.

Publication type:

Article

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 577, doi. 10.1007/s00439-023-02531-7

By:

Xu, Ping;
Chen, Zhuolin;
Ma, Jianchi;
Shan, Yongli;
Wang, Yuan;
Xie, Bingbing;
Zheng, Dandan;
Guo, Fuying;
Song, Xiaojing;
Gao, Guanjie;
Ye, Ke;
Liu, Yizhi;
Pan, Guangjin;
Jiang, Bin;
Peng, Fuhua;
Zhong, Xiufeng

Publication type:

Article

Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 563, doi. 10.1007/s00439-023-02530-8

By:

Hamideh, Dima;
Das, Anirban;
Bianchi, Vanessa;
Chung, Jiil;
Negm, Logine;
Levine, Adrian;
Basbous, Maya;
Sanchez-Ramirez, Santiago;
Mikael, Leonie;
Jabado, Nada;
Atweh, Lamya;
Lteif, Mireille;
Mahfouz, Rami;
Tarek, Nidale;
Abboud, Miguel;
Muwakkit, Samar;
Hawkins, Cynthia;
Tabori, Uri;
Saab, Raya

Publication type:

Article

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3

By:

Shamseldin, Hanan E.;
Derar, Nada;
Alzaidan, Hamad;
AlHathal, Naif;
Alfalah, Abdullah;
Abdulwahab, Firdous;
Alzaid, Tariq;
Alkeraye, Salim;
Alobaida, Saud A.;
Alkuraya, Fowzan S.

Publication type:

Article

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 483, doi. 10.1007/s00439-023-02522-8

By:

Brakta, Soumia;
Hawkins, Zoe A.;
Sahajpal, Nikhil;
Seman, Natalie;
Kira, Dina;
Chorich, Lynn P.;
Kim, Hyung-Goo;
Xu, Hongyan;
Phillips III, John A.;
Kolhe, Ravindra;
Layman, Lawrence C.

Publication type:

Article

Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 531, doi. 10.1007/s00439-022-02515-z

By:

Meng, Qingxia;
Shao, Binbin;
Zhao, Dan;
Fu, Xu;
Wang, Jiaxiong;
Li, Hong;
Zhou, Qiao;
Gao, Tingting

Publication type:

Article

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

Published in:

Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2

By:

Schnabel, Franziska;
Schuler, Elisabeth;
Al-Maawali, Almundher;
Chaurasia, Ankur;
Syrbe, Steffen;
Al-Kindi, Adila;
Bhavani, Gandham SriLakshmi;
Shukla, Anju;
Altmüller, Janine;
Nürnberg, Peter;
Banka, Siddharth;
Girisha, Katta M.;
Li, Yun;
Wollnik, Bernd;
Yigit, Gökhan

Publication type:

Article