Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 18

Results: 14

Correction to: Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

Published in:: Human Molecular Genetics, 2022, v. 31, n. 18, p. 3206, doi. 10.1093/hmg/ddac183
Publication type:: Article

Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3144, doi. 10.1093/hmg/ddac108

By:

Lee, Kuang-Yung;
Seah, Carol;
Li, Ching;
Chen, Yu-Fu;
Chen, Chwen-Yu;
Wu, Ching-I;
Liao, Po-Cheng;
Shyu, Yu-Chiau;
Olafson, Hailey R;
McKee, Kendra K;
Wang, Eric T;
Yeh, Chi-Hsiao;
Wang, Chao-Hung

Publication type:

Article

Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3095, doi. 10.1093/hmg/ddac105

By:

Clifton, Nicholas E;
Bosworth, Matthew L;
Haan, Niels;
Rees, Elliott;
Holmans, Peter A;
Wilkinson, Lawrence S;
Isles, Anthony R;
Collins, Mark O;
Hall, Jeremy

Publication type:

Article

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3120, doi. 10.1093/hmg/ddac100

By:

Pankratz, Nathan;
Wei, Peng;
Brody, Jennifer A;
Chen, Ming-Huei;
Vries, Paul S de;
Huffman, Jennifer E;
Stimson, Mary Rachel;
Auer, Paul L;
Boerwinkle, Eric;
Cushman, Mary;
Maat, Moniek P M de;
Folsom, Aaron R;
Franco, Oscar H;
Gibbs, Richard A;
Haagenson, Kelly K;
Hofman, Albert;
Johnsen, Jill M;
Kovar, Christie L;
Kraaij, Robert;
McKnight, Barbara

Publication type:

Article

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3133, doi. 10.1093/hmg/ddac102

By:

Gao, Guimin;
Zhao, Fangyuan;
Ahearn, Thomas U;
Lunetta, Kathryn L;
Troester, Melissa A;
Du, Zhaohui;
Ogundiran, Temidayo O;
Ojengbede, Oladosu;
Blot, William;
Nathanson, Katherine L;
Domchek, Susan M;
Nemesure, Barbara;
Hennis, Anselm;
Ambs, Stefan;
McClellan, Julian;
Nie, Mark;
Bertrand, Kimberly;
Zirpoli, Gary;
Yao, Song;
Olshan, Andrew F

Publication type:

Article

RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3161, doi. 10.1093/hmg/ddac110

By:

Chou, Ming-Yi;
Hu, Meng-Chuen;
Chen, Pin-Yu;
Hsu, Chi-Lin;
Lin, Ting-Yu;
Tan, Mao-Jia;
Lee, Chih-Yu;
Kuo, Meng-Fai;
Huang, Pei-Hsin;
Wu, Vin-Cent;
Yang, Shih-Hung;
Fan, Pi-Chuan;
Huang, Hsin-Yi;
Akbarian, Schahram;
Loo, Tsui-Han;
Stewart, Colin L;
Huang, Hsiang-Po;
Gau, Susan Shur-Fen;
Huang, Hsien-Sung

Publication type:

Article

Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3181, doi. 10.1093/hmg/ddac112

By:

Flynn, Robert;
Washer, Sam;
Jeffries, Aaron R;
Andrayas, Alexandria;
Shireby, Gemma;
Kumari, Meena;
Schalkwyk, Leonard C;
Mill, Jonathan;
Hannon, Eilis

Publication type:

Article

Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3191, doi. 10.1093/hmg/ddac039

By:

Chen, Hung-Hsin;
Petty, Lauren E;
North, Kari E;
McCormick, Joseph B;
Fisher-Hoch, Susan P;
Gamazon, Eric R;
Below, Jennifer E

Publication type:

Article

Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3021, doi. 10.1093/hmg/ddac045

By:

Pereira, Alexandre C;
Bes, Taniela M;
Velho, Mariliza;
Marques, Emanuelle;
Jannes, Cintia E;
Valino, Karina R;
Dinardo, Carla L;
Costa, Silvia F;
Duarte, Alberto J S;
Santos, Alexandre R;
Mitne-Neto, Miguel;
Medina-Pestana, Jose;
Krieger, Jose E

Publication type:

Article

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098

By:

Riedhammer, Korbinian M;
Burgemeister, Anna L;
Cantagrel, Vincent;
Amiel, Jeanne;
Siquier-Pernet, Karine;
Boddaert, Nathalie;
Hertecant, Jozef;
Kannouche, Patricia L;
Pouvelle, Caroline;
Htun, Stephanie;
Slavotinek, Anne M;
Beetz, Christian;
Diego-Alvarez, Dan;
Kampe, Kapil;
Fleischer, Nicole;
Awamleh, Zain;
Weksberg, Rosanna;
Kopajtich, Robert;
Meitinger, Thomas;
Suleiman, Jehan

Publication type:

Article

Motor unit recovery following Smn restoration in mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3107, doi. 10.1093/hmg/ddac097

By:

Comley, Laura H;
Kline, Rachel A;
Thomson, Alison K;
Woschitz, Victoria;
Landeros, Eric Villalón;
Osman, Erkan Y;
Lorson, Christian L;
Murray, Lyndsay M

Publication type:

Article

Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3068, doi. 10.1093/hmg/ddac096

By:

Chen, Chao;
Guan, Min-Xin

Publication type:

Article

Integrative multi-omics database (iMOMdb) of Asian pregnant women.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3051, doi. 10.1093/hmg/ddac079

By:

Pan, Hong;
Tan, Pei Fang;
Lim, Ives Y;
Huan, Jason;
Teh, Ai Ling;
Chen, Li;
Gong, Min;
Tin, Felicia;
Mir, Sartaj Ahmad;
Narasimhan, Kothandaraman;
Chan, Jerry K Y;
Tan, Kok Hian;
Kobor, Michael S;
Meikle, Peter J;
Wenk, Markus R;
Chong, Yap Seng;
Eriksson, Johan G;
Gluckman, Peter D;
Karnani, Neerja

Publication type:

Article

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 18, p. 3032, doi. 10.1093/hmg/ddac091

By:

Adhikari, Anna;
Buchanan, Fiona K B;
Fenton, Timothy A;
Cameron, David L;
Halmai, Julian A N M;
Copping, Nycole A;
Fink, Kyle D;
Silverman, Jill L

Publication type:

Article