Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 11

Results: 7

Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1621, doi. 10.1007/s00439-023-02606-5

By:

Fan, Huizhen;
Zhou, Zhou;
Zheng, Wei;
Guan, Yichun;
Meng, Qingxia;
Wang, Wenjing;
Dong, Jie;
Wan, Liuxia;
Zhu, Jiawei;
Zeng, Yang;
Liu, Ruyi;
Gu, Hao;
Lin, Ge;
Chen, Biaobang;
Sang, Qing;
Wang, Lei

Publication type:

Article

Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1543, doi. 10.1007/s00439-023-02602-9

By:

Zhu, Zijun;
Chen, Xinyu;
Zhang, Sainan;
Yu, Rui;
Qi, Changlu;
Cheng, Liang;
Zhang, Xue

Publication type:

Article

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1611, doi. 10.1007/s00439-023-02601-w

By:

Xu, Wanxue;
Plummer, Lacey;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar;
Lippincott, Margaret F.

Publication type:

Article

Circulating DNA reveals a specific and higher fragmentation of the Y chromosome.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1603, doi. 10.1007/s00439-023-02600-x

By:

Thierry, Alain R.;
Sanchez, Cynthia;
Colinge, Jacques;
Pisareva, Ekaterina

Publication type:

Article

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1587, doi. 10.1007/s00439-023-02599-1

By:

Ekenstedt, Kari J.;
Minor, Katie M.;
Shelton, G. Diane;
Hammond, James J.;
Miller, Andrew D.;
Taylor, Susan M.;
Huang, Yanyun;
Mickelson, James R.

Publication type:

Article

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2

By:

Silveira, Karina C.;
Fonseca, Inara Chacon;
Oborn, Connor;
Wengryn, Parker;
Ghafoor, Saima;
Beke, Alexander;
Dreseris, Ema S.;
Wong, Cassandra;
Iacovone, Aline;
Soltys, Carrie-Lynn;
Babul-Hirji, Riyana;
Artigalas, Osvaldo;
Antolini-Tavares, Arthur;
Gingras, Anne-Claude;
Campos, Eric;
Cavalcanti, Denise P.;
Kannu, Peter

Publication type:

Article

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Published in:

Human Genetics, 2023, v. 142, n. 11, p. 1561, doi. 10.1007/s00439-023-02592-8

By:

Kim, Youngjun;
Kim, Jeong-Min;
Cho, Hye-Won;
Park, Hyun-Young;
Park, Mi-Hyun

Publication type:

Article