Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 12

Results: 9

Locus-level antagonistic selection shaped the polygenic architecture of human complex diseases.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1935, doi. 10.1007/s00439-022-02471-8

By:

Song, Weichen;
Yuan, Kai;
Liu, Zhe;
Cai, Wenxiang;
Chen, Jue;
Yu, Shunying;
Zhao, Min;
Lin, Guan Ning

Publication type:

Article

Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1925, doi. 10.1007/s00439-022-02470-9

By:

Djursby, Malene;
Hansen, Thomas van Overeem;
Wadt, Karin A. W.;
Madsen, Majbritt Busk;
Berchtold, Lukas Adrian;
Lautrup, Charlotte Kvist;
Markholt, Sara;
Jensen, Uffe Birk;
Krogh, Lotte Nylandsted;
Lundsgaard, Malene;
Gerdes, Anne Marie;
Nilbert, Mef;
Therkildsen, Christina

Publication type:

Article

The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1905, doi. 10.1007/s00439-022-02469-2

By:

Dediu, Dan;
Jennings, Emily M.;
van't Ent, Dennis;
Moisik, Scott R.;
Di Pisa, Grazia;
Schulze, Janna;
de Geus, Eco J. C.;
den Braber, Anouk;
Dolan, Conor V.;
Boomsma, Dorret I.

Publication type:

Article

Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1887, doi. 10.1007/s00439-022-02468-3

By:

Boschiero, Matheus Negri;
Palamim, Camila Vantini Capasso;
Ortega, Manoela Marques;
Marson, Fernando Augusto Lima

Publication type:

Article

A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1875, doi. 10.1007/s00439-022-02466-5

By:

Sam, Jordan;
Reble, Emma;
Kodida, Rita;
Shaw, Angela;
Clausen, Marc;
Salazar, Mariana Gutierrez;
Shickh, Salma;
Mighton, Chloe;
Carroll, June C.;
Armel, Susan Randall;
Aronson, Melyssa;
Capo-Chichi, José-Mario;
Cohn, Iris;
Eisen, Andrea;
Elser, Christine;
Graham, Tracy;
Ott, Karen;
Panchal, Seema;
Piccinin, Carolyn;
Schrader, Kasmintan A.

Publication type:

Article

46,XY disorders of sex development: the use of NGS for prevalent variants.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1863, doi. 10.1007/s00439-022-02465-6

By:

Xie, Qi-Gen;
Luo, Peng;
Xia, Kai;
Li, Zuo-Qing;
Xu, Zhe;
Su, Cheng;
Deng, Chun-Hua

Publication type:

Article

GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1849, doi. 10.1007/s00439-022-02463-8

By:

Suthon, Sarocha;
Perkins, Rachel S.;
Lin, Jianjian;
Crockarell Jr, John R.;
Miranda-Carboni, Gustavo A.;
Krum, Susan A.

Publication type:

Article

Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.

Published in:

Human Genetics, 2022, v. 141, n. 12, p. 1811, doi. 10.1007/s00439-022-02462-9

By:

Peake, Jasmine D.;
Noguchi, Eishi

Publication type:

Article

From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.

Published in:

2022

By:

Zampeta, F. Isabella;
Distel, Ben;
Elgersma, Ype;
Iping, Rik

Publication type:

Editorial