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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Published in:
Human Genetics, 2015, v. 134, n. 2, p. 217, doi. 10.1007/s00439-014-1512-7
By:
- Zhao, Li;
- Wang, Feng;
- Wang, Hui;
- Li, Yumei;
- Wang, Keqing;
- Zaneveld, Jacques;
- Jiang, Lichun;
- Soens, Zachry;
- Chen, Rui;
- Alexander, Sharon;
- Earle, Philip;
- Simpson, David;
- Silvestri, Giuliana;
- Willoughby, Colin
Publication type:
Article
P-063: Pathogenic germline variants in hereditary cancer genes in patients with Multiple Myeloma.
Published in:
Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S73, doi. 10.1016/S2152-2650(21)02197-2
By:
- Thibaud, Santiago;
- Etra, Aaron;
- Subaran, Ryan;
- Soens, Zachry;
- Newman, Scott;
- Rong Chen;
- Chari, Ajai;
- Cho, Hearn Jay;
- Jagannath, Sundar;
- Madduri, Deepu;
- Melnekoff, David;
- Richard, Shambavi;
- Richter, Joshua;
- Sanchez, Larysa;
- Kuan-Lin Huang;
- Lagana, Alessandro;
- Parekh, Samir;
- Onel, Kenan
Publication type:
Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
By:
- Soens, Zachry T.;
- Branch, Justin;
- Wu, Shijing;
- Yuan, Zhisheng;
- Li, Yumei;
- Li, Hui;
- Wang, Keqing;
- Xu, Mingchu;
- Rajan, Lavan;
- Motta, Fabiana L.;
- Simões, Renata T.;
- Lopez‐Solache, Irma;
- Ajlan, Radwan;
- Birch, David G.;
- Zhao, Peiquan;
- Porto, Fernanda B.;
- Sallum, Juliana;
- Koenekoop, Robert K.;
- Sui, Ruifang;
- Chen, Rui
Publication type:
Article
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Published in:
Genes, 2017, v. 8, n. 12, p. 355, doi. 10.3390/genes8120355
By:
- Porto, Fernanda B. O.;
- Jones, Evan M.;
- Branch, Justin;
- Soens, Zachry T.;
- Maia, Igor Mendes;
- Sena, Isadora F. G.;
- Sampaio, Shirley A. M.;
- Simões, Renata T.;
- Chen, Rui
Publication type:
Article
GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.
Published in:
Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1579-x
By:
- Wang, Jun;
- Zhao, Li;
- Wang, Xia;
- Chen, Yong;
- Xu, Mingchu;
- Soens, Zachry T.;
- Ge, Zhongqi;
- Wang, Peter Ronghan;
- Wang, Fei;
- Chen, Rui
Publication type:
Article

Found: 5

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

P-063: Pathogenic germline variants in hereditary cancer genes in patients with Multiple Myeloma.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.