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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Published in:
PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008130
By:
- Garnai, Sarah J.;
- Brinkmeier, Michelle L.;
- Emery, Ben;
- Aleman, Tomas S.;
- Pyle, Louise C.;
- Veleva-Rotse, Biliana;
- Sisk, Robert A.;
- Rozsa, Frank W.;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Moroi, Sayoko E.;
- Archer, Steven M.;
- Lin, Cheng-mao;
- Sheskey, Sarah;
- Wiinikka-Buesser, Laurel;
- Eadie, James;
- Urquhart, Jill E.;
- Black, Graeme C.M.;
- Othman, Mohammad I.;
- Boehnke, Michael
Publication type:
Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
By:
- Khanna, Hemant;
- Davis, Erica E.;
- Murga-Zamalloa, Carlos A.;
- Estrada-Cuzcano, Alejandro;
- Lopez, Irma;
- den Hollander, Anneke I.;
- Zonneveld, Marijke N.;
- Othman, Mohammad I.;
- Waseem, Naushin;
- Chakarova, Christina F.;
- Maubaret, Cecilia;
- Diaz-Font, Anna;
- MacDonald, Ian;
- Muzny, Donna M;
- Wheeler, David A.;
- Morgan, Margaret;
- Lewis, Lora R.;
- Logan, Clare V.;
- Tan, Perciliz L.;
- Beer, Michael A.
Publication type:
Article
Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15.
Published in:
PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0035865
By:
- Thompson, Debra A.;
- Khan, Naheed W.;
- Othman, Mohammad I.;
- Chang, Bo;
- Jia, Lin;
- Grahek, Garrett;
- Wu, Zhijian;
- Hiriyanna, Suja;
- Nellissery, Jacob;
- Li, Tiansen;
- Khanna, Hemant;
- Colosi, Peter;
- Swaroop, Anand;
- Heckenlively, John R.
Publication type:
Article
Comparing variant calling algorithms for target-exon sequencing in a large sample.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0489-0
By:
- Yancy Lo;
- Kang, Hyun M.;
- Nelson, Matthew R.;
- Othman, Mohammad I.;
- Chissoe, Stephanie L.;
- Ehm, Margaret G.;
- Abecasis, Gonçalo R.;
- Zöllner, Sebastian
Publication type:
Article
Comparing variant calling algorithms for target-exon sequencing in a large sample.
Published in:
BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0489-0
By:
- Yancy Lo;
- Kang, Hyun M.;
- Nelson, Matthew R.;
- Othman, Mohammad I.;
- Chissoe, Stephanie L.;
- Ehm, Margaret G.;
- Abecasis, Gonçalo R.;
- Zöllner, Sebastian
Publication type:
Article

Found: 5

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15.

Comparing variant calling algorithms for target-exon sequencing in a large sample.

Comparing variant calling algorithms for target-exon sequencing in a large sample.