Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 5

Results: 8

Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 413, doi. 10.1007/s00439-018-1893-0
By:
- Manduchi, Elisabetta;
- Williams, Scott M.;
- Chesi, Alessandra;
- Johnson, Matthew E.;
- Wells, Andrew D.;
- Grant, Struan F. A.;
- Moore, Jason H.
Publication type:
Article
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Published in:
2018
By:
- Fritzen, Daniel;
- Kuechler, Alma;
- Grimmel, Mona;
- Becker, Jessica;
- Peters, Sophia;
- Sturm, Marc;
- Hundertmark, Hela;
- Schmidt, Axel;
- Kreiß, Martina;
- Strom, Tim M.;
- Wieczorek, Dagmar;
- Haack, Tobias B.;
- Beck-Wödl, Stefanie;
- Cremer, Kirsten;
- Engels, Hartmut
Publication type:
Case Study
Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.
Published in:
2018
By:
- Lindström, Sara;
- Germain, Marine;
- Crous-Bou, Marta;
- Smith, Erin N.;
- Morange, Pierre-Emmanuel;
- van Hylckama Vlieg, Astrid;
- de Haan, Hugoline G.;
- Chasman, Daniel;
- Ridker, Paul;
- Brody, Jennifer;
- de Andrade, Mariza;
- Heit, John A.;
- Tang, Weihong;
- De Vivo, Immaculata;
- Grodstein, Francine;
- Smith, Nicholas L.;
- Tregouet, David;
- Kabrhel, Christopher;
- for the INVENT Consortium
Publication type:
Correction Notice
Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.
Published in:
2018
By:
- Krall, M.;
- Htun, S.;
- Anand, D.;
- Hart, D.;
- Lachke, S. A.;
- Slavotinek, A. M.
Publication type:
Correction Notice
Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 357, doi. 10.1007/s00439-018-1889-9
By:
- Mowat, Andrew J.;
- Crompton, Michael;
- Ziff, Joanna L.;
- Aldren, Christopher P.;
- Lavy, Jeremy A.;
- Saeed, Shakeel R.;
- Dawson, Sally J.
Publication type:
Article
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 365, doi. 10.1007/s00439-018-1888-x
By:
- Neuhäusler, Lisa;
- Summerer, Anna;
- Cooper, David N.;
- Mautner, Victor-F.;
- Kehrer-Sawatzki, Hildegard
Publication type:
Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
By:
- Snijders Blok, Lot;
- Hiatt, Susan M.;
- Bowling, Kevin M.;
- Prokop, Jeremy W.;
- Engel, Krysta L.;
- Cochran, J. Nicholas;
- Bebin, E. Martina;
- Bijlsma, Emilia K.;
- Ruivenkamp, Claudia A. L.;
- Terhal, Paulien;
- Simon, Marleen E. H.;
- Smith, Rosemarie;
- Hurst, Jane A.;
- The DDD study;
- McLaughlin, Heather;
- Person, Richard;
- Crunk, Amy;
- Wangler, Michael F.;
- Streff, Haley;
- Symonds, Joseph D.
Publication type:
Article
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 389, doi. 10.1007/s00439-018-1880-5
By:
- Wesdorp, Mieke;
- de Koning Gans, Pia A. M.;
- Schraders, Margit;
- Oostrik, Jaap;
- Huynen, Martijn A.;
- Venselaar, Hanka;
- Beynon, Andy J.;
- van Gaalen, Judith;
- Piai, Vitória;
- Voermans, Nicol;
- van Rossum, Michelle M.;
- Hartel, Bas P.;
- Lelieveld, Stefan H.;
- Wiel, Laurens;
- Verbist, Berit;
- Rotteveel, Liselotte J.;
- van Dooren, Marieke F.;
- Lichtner, Peter;
- Kunst, Henricus P. M.;
- Feenstra, Ilse
Publication type:
Article