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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
By:
- Nicholas, Thomas J.;
- Al‐Sweel, Najla;
- Farrell, Andrew;
- Mao, Rong;
- Bayrak‐Toydemir, Pinar;
- Miller, Christine E.;
- Bentley, Dawn;
- Palmquist, Rachel;
- Moore, Barry;
- Hernandez, Edgar J.;
- Cormier, Michael J.;
- Fredrickson, Eric;
- Noble, Katherine;
- Rynearson, Shawn;
- Holt, Carson;
- Karren, Mary Anne;
- Bonkowsky, Joshua L.;
- Tristani‐Firouzi, Martin;
- Yandell, Mark;
- Marth, Gabor
Publication type:
Article
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0969-1
By:
- Flygare, Steven;
- Simmon, Keith;
- Miller, Chase;
- Yi Qiao;
- Kennedy, Brett;
- Sera, Tonya Di;
- Graf, Erin H.;
- Tardif, Keith D.;
- Kapusta, Aurélie;
- Rynearson, Shawn;
- Stockmann, Chris;
- Queen, Krista;
- Suxiang Tong;
- Voelkerding, Karl V.;
- Blaschke, Anne;
- Byington, Carrie L.;
- Jain, Seema;
- Pavia, Andrew;
- Ampofo, Krow;
- Eilbeck, Karen
Publication type:
Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
By:
- Reynolds, Hayley M.;
- Ting Wen;
- Farrell, Andrew;
- Rong Mao;
- Moore, Barry;
- Boyden, Steven E.;
- Bayrak-Toydemir, Pinar;
- Nicholas, Thomas J.;
- Rynearson, Shawn;
- Holt, Carson;
- Miller, Christine;
- Noble, Katherine;
- Bentley, Dawn;
- Palmquist, Rachel;
- Ostrander, Betsy;
- Manberg, Stephanie;
- Bonkowsky, Joshua L.;
- Shayota, Brian J.;
- Jenkins, Sabrina Malone
Publication type:
Article
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-016-0391-z
By:
- Patel, Ronak Y.;
- Shah, Neethu;
- Jackson, Andrew R.;
- Ghosh, Rajarshi;
- Pawliczek, Piotr;
- Paithankar, Sameer;
- Baker, Aaron;
- Riehle, Kevin;
- Chen, Hailin;
- Milosavljevic, Sofia;
- Bizon, Chris;
- Rynearson, Shawn;
- Nelson, Tristan;
- Jarvik, Gail P.;
- Rehm, Heidi L.;
- Harrison, Steven M.;
- Azzariti, Danielle;
- Powell, Bradford;
- Babb, Larry;
- Plon, Sharon E.
Publication type:
Article

Found: 4

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling.

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.