Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 18

Results: 9

NGLY1 deficiency: a prospective natural history study.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2787, doi. 10.1093/hmg/ddad106

By:

Tong, Sandra;
Ventola, Pamela;
Frater, Christina H;
Klotz, Jenna;
Phillips, Jennifer M;
Muppidi, Srikanth;
Dwight, Selina S;
Mueller, William F;
Beahm, Brendan J;
Wilsey, Matt;
Lee, Kevin J

Publication type:

Article

Multi-ancestry genome-wide analysis identifies shared genetic effects and common genetic variants for self-reported sleep duration.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2797, doi. 10.1093/hmg/ddad101

By:

Scammell, B H;
Tchio, C;
Song, Y;
Nishiyama, T;
Louie, T L;
Dashti, H S;
Nakatochi, M;
Zee, P C;
Daghlas, I;
Momozawa, Y;
Cai, J;
Ollila, H M;
Redline, S;
Wakai, K;
Sofer, T;
Suzuki, S;
Lane, J M;
Saxena, R

Publication type:

Article

Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2842, doi. 10.1093/hmg/ddad095

By:

Luyapan, Jennifer;
Bossé, Yohan;
Li, Zhonglin;
Xiao, Xiangjun;
Rosenberger, Albert;
Hung, Rayjean J;
Lam, Stephen;
Zienolddiny, Shanbeh;
Liu, Geoffrey;
Kiemeney, Lambertus A;
Chen, Chu;
McKay, James;
Johansson, Mattias;
Johansson, Mikael;
Tardon, Adonina;
Fernandez-Tardon, Guillermo;
Brennan, Paul;
Field, John K;
Davies, Michael P;
Woll, Penella J

Publication type:

Article

Toward a better understanding of PHTS heterogeneity: commentary on 'Cell-type specific deficits in PTEN-mutant cortical organoids converge on abnormal circuit activity'.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2771, doi. 10.1093/hmg/ddad127

By:

Tan, Zhibing;
Luikart, Bryan W

Publication type:

Article

Erratum to: De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 18, p. 2856, doi. 10.1093/hmg/ddad120
Publication type:: Article

Generation of advanced cerebellar organoids for neurogenesis and neuronal network development.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2832, doi. 10.1093/hmg/ddad110

By:

Chen, Ya;
Bury, Luke A;
Chen, Fu;
Aldinger, Kimberly A;
Miranda, Helen C;
Wynshaw-Boris, Anthony

Publication type:

Article

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109

By:

Bruel, Ange-Line;
Ganga, Anil Kumar;
Nosková, Lenka;
Valenzuela, Irene;
Martinovic, Jelena;
Duffourd, Yannis;
Zikánová, Marie;
Majer, Filip;
Kmoch, Stanislav;
Mohler, Markéta;
Sun, Jingbo;
Sweeney, Lauren K;
Martínez-Gil, Núria;
Thauvin-Robinet, Christel;
Breslow, David K

Publication type:

Article

Cell-type specific defects in PTEN-mutant cortical organoids converge on abnormal circuit activity.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2773, doi. 10.1093/hmg/ddad107

By:

Pigoni, Martina;
Uzquiano, Ana;
Paulsen, Bruna;
Kedaigle, Amanda J;
Yang, Sung Min;
Symvoulidis, Panagiotis;
Adiconis, Xian;
Velasco, Silvia;
Sartore, Rafaela;
Kim, Kwanho;
Tucewicz, Ashley;
Tropp, Sarah Yoshimi;
Tsafou, Kalliopi;
Jin, Xin;
Barrett, Lindy;
Chen, Fei;
Boyden, Edward S;
Regev, Aviv;
Levin, Joshua Z;
Arlotta, Paola

Publication type:

Article

Mitochondrial dysfunction and mitophagy defects in LRRK2-R1441C Parkinson's disease models.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 18, p. 2808, doi. 10.1093/hmg/ddad102

By:

Williamson, Matthew G;
Madureira, Marta;
McGuinness, William;
Heon-Roberts, Rachel;
Mock, Elliot D;
Naidoo, Kalina;
Cramb, Kaitlyn M L;
Caiazza, Maria-Claudia;
Malpartida, Ana B;
Lavelle, Martha;
Savory, Katrina;
Humble, Stewart W;
Patterson, Ryan;
Davis, John B;
Connor-Robson, Natalie;
Ryan, Brent J;
Wade-Martins, Richard

Publication type:

Article