Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 5

Results: 8

Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 703, doi. 10.1007/s00439-024-02672-3
By:
- Kerns, Sophia;
- Owen, Katherine A.;
- Schwalbe, Dana;
- Grammer, Amrie C.;
- Lipsky, Peter E.
Publication type:
Article
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 695, doi. 10.1007/s00439-024-02671-4
By:
- Hadar, Noam;
- Dolgin, Vadim;
- Oustinov, Katya;
- Yogev, Yuval;
- Poleg, Tomer;
- Safran, Amit;
- Freund, Ofek;
- Agam, Nadav;
- Jean, Matan M.;
- Proskorovski-Ohayon, Regina;
- Wormser, Ohad;
- Drabkin, Max;
- Halperin, Daniel;
- Eskin-Schwartz, Marina;
- Narkis, Ginat;
- Sued-Hendrickson, Sufa;
- Aminov, Ilana;
- Gombosh, Maya;
- Aharoni, Sarit;
- Birk, Ohad S.
Publication type:
Article
Variant effect predictors: a systematic review and practical guide.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 625, doi. 10.1007/s00439-024-02670-5
By:
- Riccio, Cristian;
- Jansen, Max L.;
- Guo, Linlin;
- Ziegler, Andreas
Publication type:
Article
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
By:
- Kopp, Johannes;
- Koch, Leonard A.;
- Lyubenova, Hristiana;
- Küchler, Oliver;
- Holtgrewe, Manuel;
- Ivanov, Andranik;
- Dubourg, Christele;
- Launay, Erika;
- Brachs, Sebastian;
- Mundlos, Stefan;
- Ehmke, Nadja;
- Seelow, Dominik;
- Fradin, Mélanie;
- Kornak, Uwe;
- Fischer-Zirnsak, Björn
Publication type:
Article
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 667, doi. 10.1007/s00439-024-02668-z
By:
- Sahly, Ahmed N.;
- Sierra-Marquez, Juan;
- Bungert-Plümke, Stefanie;
- Franzen, Arne;
- Mougharbel, Lina;
- Berrahmoune, Saoussen;
- Dassi, Christelle;
- Poulin, Chantal;
- Srour, Myriam;
- Guzman, Raul E.;
- Myers, Kenneth A.
Publication type:
Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
By:
- Ferrer, Alejandro;
- Duffy, Patrick;
- Olson, Rory J.;
- Meiners, Michael A.;
- Schultz-Rogers, Laura;
- Macke, Erica L.;
- Safgren, Stephanie;
- Morales-Rosado, Joel A.;
- Cousin, Margot A.;
- Oliver, Gavin R.;
- Rider, David;
- Williams, Megan;
- Pichurin, Pavel N.;
- Deyle, David R.;
- Morava, Eva;
- Gavrilova, Ralitza H.;
- Dhamija, Radhika;
- Wierenga, Klass J.;
- Lanpher, Brendan C.;
- Babovic-Vuksanovic, Dusica
Publication type:
Article
Cross-ancestry genetic architecture and prediction for cholesterol traits.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 635, doi. 10.1007/s00439-024-02660-7
By:
- Momin, Md. Moksedul;
- Zhou, Xuan;
- Hyppönen, Elina;
- Benyamin, Beben;
- Lee, S. Hong
Publication type:
Article
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Published in:
Human Genetics, 2024, v. 143, n. 5, p. 721, doi. 10.1007/s00439-024-02648-3
By:
- Colbert, Brett M.;
- Lanting, Cris;
- Smeal, Molly;
- Blanton, Susan;
- Dykxhoorn, Derek M.;
- Tang, Pei-Ciao;
- Getchell, Richard L.;
- Velde, Hedwig;
- Fehrmann, Mirthe;
- Thorpe, Ryan;
- Chapagain, Prem;
- Elkhaligy, Heidy;
- Kremer, Hannie;
- Yntema, Helger;
- Haer-Wigman, Lonneke;
- Redfield, Shelby;
- Sun, Tieqi;
- Bruijn, Saskia;
- Plomp, Astrid;
- Goderie, Thadé
Publication type:
Article