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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
By:
- Owen, Mallory J.;
- Lefebvre, Sebastien;
- Hansen, Christian;
- Kunard, Chris M.;
- Dimmock, David P.;
- Smith, Laurie D.;
- Scharer, Gunter;
- Mardach, Rebecca;
- Willis, Mary J.;
- Feigenbaum, Annette;
- Niemi, Anna-Kaisa;
- Ding, Yan;
- Van Der Kraan, Luca;
- Ellsworth, Katarzyna;
- Guidugli, Lucia;
- Lajoie, Bryan R.;
- McPhail, Timothy K.;
- Mehtalia, Shyamal S.;
- Chau, Kevin K.;
- Kwon, Yong H.
Publication type:
Article
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
By:
- Owen, Mallory J.;
- Lefebvre, Sebastien;
- Hansen, Christian;
- Kunard, Chris M.;
- Dimmock, David P.;
- Smith, Laurie D.;
- Scharer, Gunter;
- Mardach, Rebecca;
- Willis, Mary J.;
- Feigenbaum, Annette;
- Niemi, Anna-Kaisa;
- Ding, Yan;
- Van Der Kraan, Luca;
- Ellsworth, Katarzyna;
- Guidugli, Lucia;
- Lajoie, Bryan R.;
- McPhail, Timothy K.;
- Mehtalia, Shyamal S.;
- Chau, Kevin K.;
- Kwon, Yong H.
Publication type:
Article
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
Published in:
Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01412-8
By:
- Udani, Rupa;
- Schilter, Kala F.;
- Tyler, Rebecca C.;
- Smith, Brandon A.;
- Wendt-Andrae, Jaime L.;
- Kappes, Ulrike P.;
- Scharer, Gunter;
- Lehman, Anna;
- Steinraths, Michelle;
- Reddi, Honey V.
Publication type:
Article
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886
By:
- Peddibhotla, Sirisha;
- Khalifa, Mohamed;
- Probst, Frank J.;
- Stein, Jennifer;
- Harris, Leslie L.;
- Kearney, Debra L.;
- Vance, Gail H.;
- Bull, Marilyn J.;
- Grange, Dorothy K.;
- Scharer, Gunter H.;
- Kang, Sue‐Hae L.;
- Stankiewicz, Pawel;
- Bacino, Carlos A.;
- Cheung, Sau W.;
- Patel, Ankita
Publication type:
Article
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 366, doi. 10.1093/brain/awt328
By:
- Baker, Peter R.;
- Friederich, Marisa W.;
- Swanson, Michael A.;
- Shaikh, Tamim;
- Bhattacharya, Kaustuv;
- Scharer, Gunter H.;
- Aicher, Joseph;
- Creadon-Swindell, Geralyn;
- Geiger, Elizabeth;
- MacLean, Kenneth N.;
- Lee, Wang-Tso;
- Deshpande, Charu;
- Freckmann, Mary-Louise;
- Shih, Ling-Yu;
- Wasserstein, Melissa;
- Rasmussen, Malene B.;
- Lund, Allan M.;
- Procopis, Peter;
- Cameron, Jessie M.;
- Robinson, Brian H.
Publication type:
Article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Published in:
2015
By:
- Swanson, Michael A.;
- Coughlin, Curtis R.;
- Scharer, Gunter H.;
- Szerlong, Heather J.;
- Bjoraker, Kendra J.;
- Spector, Elaine B.;
- Creadon‐Swindell, Geralyn;
- Mahieu, Vincent;
- Matthijs, Gert;
- Hennermann, Julia B.;
- Applegarth, Derek A.;
- Toone, Jennifer R.;
- Tong, Suhong;
- Williams, Kristina;
- Van Hove, Johan L. K.
Publication type:
journal article
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Published in:
Annals of Neurology, 2009, v. 65, n. 5, p. 550, doi. 10.1002/ana.21568
By:
- Gallagher, Renata C.;
- Van Hove, Johan L. K.;
- Scharer, Gunter;
- Hyland, Keith;
- Plecko, Barbara;
- Waters, Paula J.;
- Mercimek-Mahmutoglu, Saadet;
- Stockler-Ipsiroglu, Sylvia;
- Salomons, Gajja S.;
- Rosenberg, Efraim H.;
- Struys, Eduard A.;
- Jakobs, Cornelis
Publication type:
Article
Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 253, doi. 10.1007/s10545-011-9398-1
By:
- Hennermann, Julia;
- Berger, Jeanne-Marie;
- Grieben, Ulrike;
- Scharer, Gunter;
- Hove, Johan
Publication type:
Article
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 571, doi. 10.1007/s10545-010-9187-2
By:
- Scharer, Gunter;
- Brocker, Chad;
- Vasiliou, Vasilis;
- Creadon-Swindell, Geralyn;
- Gallagher, Renata;
- Spector, Elaine;
- Van Hove, Johan
Publication type:
Article
Genomics in Clinical Practice: Lessons from the Front Lines.
Published in:
Science Translational Medicine, 2013, v. 5, n. 194, p. 1, doi. 10.1126/scitranslmed.3006468
By:
- Jacob, Howard J.;
- Abrams, Kelly;
- Bick, David P.;
- Brodie, Kent;
- Dimmock, David P.;
- Farrell, Michael;
- Geurts, Jennifer;
- Harris, Jeremy;
- Helbling, Daniel;
- Joers, Barbara J.;
- Kliegman, Robert;
- Kowalski, George;
- Lazar, Jozef;
- Margolis, David A.;
- North, Paula;
- Northup, Jill;
- Roquemore-Goins, Altheia;
- Scharer, Gunter;
- Shimoyama, Mary;
- Strong, Kimberly
Publication type:
Article
Characterization of complex structural variation in the CYP2D6-CYP2D7-CYP2D8 gene loci using single-molecule long-read sequencing.
Published in:
Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1195778
By:
- Turner, Amy J.;
- Derezinski, Ashley D.;
- Gaedigk, Andrea;
- Berres, Mark E.;
- Gregornik, David B.;
- Brown, Keith;
- Broeckel, Ulrich;
- Scharer, Gunter
Publication type:
Article
Updated DPYDHapB3 haplotype structure and implications for pharmacogenomic testing.
Published in:
CTS: Clinical & Translational Science, 2024, v. 17, n. 1, p. 1, doi. 10.1111/cts.13699
By:
- Turner, Amy J.;
- Haidar, Cyrine E.;
- Yang, Wenjian;
- Boone, Erin C.;
- Offer, Steven M.;
- Empey, Philip E.;
- Haddad, Andrew;
- Tahir, Saba;
- Scharer, Gunter;
- Broeckel, Ulrich;
- Gaedigk, Andrea
Publication type:
Article

Found: 12