Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 20

Results: 11

Corrigendum to: Genome-wide heritability analysis of severe malaria resistance reveals evidence of polygenic inheritance.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3464, doi. 10.1093/hmg/ddaa241

By:

Damena, Delesa;
Chimusa, Emile R

Publication type:

Article

Unravelling the disease mechanism for TSPYL1 deficiency.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3431, doi. 10.1093/hmg/ddaa233

By:

Buyse, Gunnar;
Michele, Michela Di;
Wijgaerts, Anouck;
Louwette, Sophie;
Wittevrongel, Christine;
Thys, Chantal;
Downes, Kate;
Ceulemans, Berten;
Esch, Hild Van;
Geet, Chris Van;
Freson, Kathleen

Publication type:

Article

Variants in RABL2A causing male infertility and ciliopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3402, doi. 10.1093/hmg/ddaa230

By:

Ding, Xinbao;
Fragoza, Robert;
Singh, Priti;
Zhang, Shu;
Yu, Haiyuan;
Schimenti, John C

Publication type:

Article

Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3373, doi. 10.1093/hmg/ddaa228

By:

Sun, Wesley R;
Ramirez, Sara;
Spiller, Kelly E;
Zhao, Yan;
Fuhrmann, Sabine

Publication type:

Article

SWI/SNF inactivation in the endometrial epithelium leads to loss of epithelial integrity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3412, doi. 10.1093/hmg/ddaa227

By:

Reske, Jake J;
Wilson, Mike R;
Holladay, Jeanne;
Wegener, Marc;
Adams, Marie;
Chandler, Ronald L

Publication type:

Article

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3388, doi. 10.1093/hmg/ddaa224

By:

Sterling, Noelle;
Duncan, Anna R;
Park, Raehee;
Koolen, David A;
Shi, Jiahai;
Cho, Seo-Hee;
Benke, Paul J;
Grant, Patricia E;
Genetti, Casie A;
VanNoy, Grace E;
Juusola, Jane;
McWalter, Kirsty;
Parboosingh, Jillian S;
Lamont, Ryan E;
Bernier, Francois P;
Smith, Christopher;
Harris, David J;
Stegmann, Alexander P A;
Innes, A Micheil;
Kim, Seonhee

Publication type:

Article

RNA-Seq profiling of leukocytes reveals a sex-dependent global circular RNA upregulation in multiple sclerosis and 6 candidate biomarkers.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3361, doi. 10.1093/hmg/ddaa219

By:

Iparraguirre, Leire;
Alberro, Ainhoa;
Sepúlveda, Lucía;
Osorio-Querejeta, Iñaki;
Moles, Laura;
Castillo-Triviño, Tamara;
Hansen, Thomas B;
Muñoz-Culla, Maider;
Otaegui, David

Publication type:

Article

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3350, doi. 10.1093/hmg/ddaa216

By:

Lindhurst, Marjorie J;
Li, Wenling;
Laughner, Nathaniel;
Shwetar, Jasmine J;
Kondolf, Hannah C;
Ma, Xuefei;
Mukouyama, Yoh-suke;
Biesecker, Leslie G

Publication type:

Article

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3443, doi. 10.1093/hmg/ddaa215

By:

Berthon, Annabel;
Settas, Nikolaos;
Delaney, Angela;
Giannakou, Andreas;
Demidowich, Andrew;
Faucz, Fabio R;
Seminara, Stephanie B;
Chen, Margaret E;
Stratakis, Constantine A

Publication type:

Article

The Duffy-null genotype and risk of infection.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3341, doi. 10.1093/hmg/ddaa208

By:

Legge, Sophie E;
Christensen, Rune H;
Petersen, Liselotte;
Pardiñas, Antonio F;
Bracher-Smith, Matthew;
Knapper, Steven;
Bybjerg-Grauholm, Jonas;
Baekvad-Hansen, Marie;
Hougaard, David M;
Werge, Thomas;
Nordentoft, Merete;
Mortensen, Preben Bo;
Owen, Michael J;
O'Donovan, Michael C;
Benros, Michael E;
Walters, James T R

Publication type:

Article

Insights into genetic variants associated with NASH-fibrosis from metabolite profiling.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 20, p. 3451, doi. 10.1093/hmg/ddaa162

By:

Mann, Jake P;
Pietzner, Maik;
Wittemans, Laura B;
Rolfe, Emmanuela De Lucia;
Kerrison, Nicola D;
Imamura, Fumiaki;
Forouhi, Nita G;
Fauman, Eric;
Allison, Michael E;
Griffin, Jules L;
Koulman, Albert;
Wareham, Nicholas J;
Langenberg, Claudia

Publication type:

Article