OpenURL Connection Search

Select item for more details and to access through your institution.

POLR3A variants in hereditary spastic paraplegia and ataxia.
Published in:
2018
By:
- Gauquelin, Laurence;
- Tétreault, Martine;
- Thiffault, Isabelle;
- Farrow, Emily;
- Miller, Neil;
- Yoo, Byunggil;
- Bareke, Eric;
- Yoon, Grace;
- Suchowersky, Oksana;
- Dupré, Nicolas;
- Tarnopolsky, Mark;
- Brais, Bernard;
- Wolf, Nicole I.;
- Majewski, Jacek;
- Rouleau, Guy A.;
- Gan-Or, Ziv;
- Bernard, Geneviève
Publication type:
Letter
Curated variation benchmarks for challenging medically relevant autosomal genes.
Published in:
Nature Biotechnology, 2022, v. 40, n. 5, p. 672, doi. 10.1038/s41587-021-01158-1
By:
- Wagner, Justin;
- Olson, Nathan D.;
- Harris, Lindsay;
- McDaniel, Jennifer;
- Cheng, Haoyu;
- Fungtammasan, Arkarachai;
- Hwang, Yih-Chii;
- Gupta, Richa;
- Wenger, Aaron M.;
- Rowell, William J.;
- Khan, Ziad M.;
- Farek, Jesse;
- Zhu, Yiming;
- Pisupati, Aishwarya;
- Mahmoud, Medhat;
- Xiao, Chunlin;
- Yoo, Byunggil;
- Sahraeian, Sayed Mohammad Ebrahim;
- Miller, Danny E.;
- Jáspez, David
Publication type:
Article
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38782-1
By:
- Cheung, Warren A.;
- Johnson, Adam F.;
- Rowell, William J.;
- Farrow, Emily;
- Hall, Richard;
- Cohen, Ana S. A.;
- Means, John C.;
- Zion, Tricia N.;
- Portik, Daniel M.;
- Saunders, Christopher T.;
- Koseva, Boryana;
- Bi, Chengpeng;
- Truong, Tina K.;
- Schwendinger-Schreck, Carl;
- Yoo, Byunggil;
- Johnston, Jeffrey J.;
- Gibson, Margaret;
- Evrony, Gilad;
- Rizzo, William B.;
- Thiffault, Isabelle
Publication type:
Article
Deciphering the Developmental Dynamics of the Mouse Liver Transcriptome.
Published in:
PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141220
By:
- Gunewardena, Sumedha S.;
- Yoo, Byunggil;
- Peng, Lai;
- Lu, Hong;
- Zhong, Xiaobo;
- Klaassen, Curtis D.;
- Cui, Julia Yue
Publication type:
Article
Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples.
Published in:
Cancers, 2024, v. 16, n. 17, p. 2936, doi. 10.3390/cancers16172936
By:
- Schmitt, Anthony D.;
- Sikkink, Kristin;
- Ahmed, Atif A.;
- Melnyk, Shadi;
- Reid, Derek;
- Van Meter, Logan;
- Guest, Erin M.;
- Lansdon, Lisa A.;
- Pastinen, Tomi;
- Pushel, Irina;
- Yoo, Byunggil;
- Farooqi, Midhat S.
Publication type:
Article
Genetic heterogeneity and enrichment of variants in DNA‐repair genes in ameloblastoma.
Published in:
Journal of Oral Pathology & Medicine, 2023, v. 52, n. 3, p. 263, doi. 10.1111/jop.13410
By:
- Awotoye, Waheed;
- Whitt, Joseph Craig;
- Yoo, Byunggil;
- Farooqi, Midhat S.;
- Farrow, Emily G.;
- Allareddy, Veerasathpurush;
- Amendt, Brad A.;
- Rengasamy Venugopalan, Shankar
Publication type:
Article
Developmental regulation of nuclear receptor mRNAs in livers of FXR‐null mice (901.1).
Published in:
FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.901.1
By:
- Cui, Julia Yue;
- Peng, Lai;
- Yoo, Byunggil;
- Tien, Yun‐chen;
- Lu, Hong;
- Zhong, Xiao‐bo;
- Klaassen, Curtis
Publication type:
Article
Characterization of a hepatocyte nuclear factor 4 alpha gene signature in hepatocellular carcinoma (144.11).
Published in:
FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.144.11
By:
- Walesky, Chad;
- Gunewardena, Sumedha;
- Yoo, Byunggil;
- Li, Ren;
- Edwards, Genea;
- Apte, Udayan
Publication type:
Article
The role of FXR in the regulation of phase‐I drug metabolizing gene expression during mouse liver maturation (1141.1).
Published in:
FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.1141.1
By:
- Peng, Lai;
- Cui, Julia;
- Yoo, Byunggil;
- Tien, Yun‐chen;
- Lu, Hong;
- Klaassen, Curtis;
- Zhong, Xiao‐bo
Publication type:
Article
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Published in:
Clinical Chemistry, 2022, v. 68, n. 9, p. 1177, doi. 10.1093/clinchem/hvac113
By:
- Lansdon, Lisa A.;
- Cadieux-Dion, Maxime;
- Herriges, John C.;
- Johnston, Jeffrey;
- Byunggil Yoo;
- Alaimo, Joseph T.;
- Thiffault, Isabelle;
- Miller, Neil;
- Cohen, Ana S. A.;
- Repnikova, Elena A.;
- Lei Zhang;
- Farooqi, Midhat S.;
- Farrow, Emily G.;
- Saunders, Carol J.
Publication type:
Article
Using dried blood spots for variant analysis for patients with haemophilia.
Published in:
Haemophilia, 2019, v. 25, n. 5, p. e339, doi. 10.1111/hae.13824
By:
- Amos, Lauren E.;
- Yoo, Byunggil;
- Miller, Neil;
- Farrow, Emily G.;
- Walter, Adam;
- Gibson, Margaret;
- Durham, Sara;
- Herd, Suzanne;
- Soden, Sarah;
- Carpenter, Shannon L.
Publication type:
Article
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0221-8
By:
- Miller, Neil A.;
- Farrow, Emily G.;
- Gibson, Margaret;
- Willig, Laurel K.;
- Twist, Greyson;
- Yoo, Byunggil;
- Marrs, Tyler;
- Corder, Shane;
- Krivohlavek, Lisa;
- Walter, Adam;
- Petrikin, Josh E.;
- Saunders, Carol J.;
- Thiffault, Isabelle;
- Soden, Sarah E.;
- Smith, Laurie D.;
- Dinwiddie, Darrell L.;
- Herd, Suzanne;
- Cakici, Julie A.;
- Catreux, Severine;
- Ruehle, Mike
Publication type:
Article
RNA-Seq Reveals Different mRNA Abundance of Transporters and Their Alternative Transcript Isoforms During Liver Development.
Published in:
Toxicological Sciences, 2012, v. 127, n. 2, p. 592, doi. 10.1093/toxsci/kfs107
By:
- Cui, Julia Yue;
- Gunewardena, Sumedha S.;
- Yoo, Byunggil;
- Liu, Jie;
- Renaud, Helen J.;
- Lu, Hong;
- Zhong, Xiao-bo;
- Klaassen, Curtis D.
Publication type:
Article
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18564-9
By:
- Chin, Chen-Shan;
- Wagner, Justin;
- Zeng, Qiandong;
- Garrison, Erik;
- Garg, Shilpa;
- Fungtammasan, Arkarachai;
- Rautiainen, Mikko;
- Aganezov, Sergey;
- Kirsche, Melanie;
- Zarate, Samantha;
- Schatz, Michael C.;
- Xiao, Chunlin;
- Rowell, William J.;
- Markello, Charles;
- Farek, Jesse;
- Sedlazeck, Fritz J.;
- Bansal, Vikas;
- Yoo, Byunggil;
- Miller, Neil;
- Zhou, Xin
Publication type:
Article

Found: 14