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Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Published in:
Human Genetics, 2021, v. 140, n. 2, p. 289, doi. 10.1007/s00439-020-02201-y
By:
- Pranckeviciene, Erinija;
- Racacho, Lemuel;
- Ghani, Mahdi;
- Nfonsam, Landry;
- Potter, Ryan;
- Sinclair-Bourque, Elizabeth;
- Mettler, Gabrielle;
- Smith, Amanda;
- Bronicki, Lucas;
- Huang, Lijia;
- Jarinova, Olga
Publication type:
Article
Peer Observed Interaction and Structured Evaluation (POISE): A Canadian Experience with Peer Supervision for Genetic Counselors.
Published in:
Journal of Genetic Counseling, 2011, v. 20, n. 2, p. 204, doi. 10.1007/s10897-010-9341-x
By:
- Goldsmith, Claire;
- Honeywell, Christina;
- Mettler, Gabrielle
Publication type:
Article
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
Published in:
Human Molecular Genetics, 1999, v. 8, n. 12, p. 2325, doi. 10.1093/hmg/8.12.2325
By:
- Sahoo, Trilochan;
- Johnson, Eric W.;
- Thomas, James W.;
- Kuehl, Peter M.;
- Jones, Thomas L.;
- Dokken, Charles G.;
- Touchman, Jeffrey W.;
- Gallione, Carol J.;
- Lee-Lin, Shih-Queen;
- Kosofsky, Barry;
- Kurth, Janice H.;
- Louis, David N.;
- Mettler, Gabrielle;
- Morrison, Leslie;
- Gil-Nagel, Antonio;
- Rich, Steven S.;
- Zabramski, Joseph M.;
- Boguski, Mark S.;
- Green, Eric D.;
- Marchuk, Douglas A.
Publication type:
Article
Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
By:
- Craig, Holly D.;
- Günel, Murat;
- Cepeda, Obed;
- Johnson, Eric W.;
- Ptacek, Louis;
- Steinberg, Gary K.;
- Ogilvy, Christopher S.;
- Berg, Michael J.;
- Crawford, Stephen C.;
- Scott, R. Michael;
- Steichen-Gersdorf, Elizabeth;
- Sabroe, Ruth;
- Kennedy, C. T. C.;
- Mettler, Gabrielle;
- Beis, M. Jill;
- Fryer, Alan;
- Awad, Issam A.;
- Lifton, Richard P.
Publication type:
Article
Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 12, p. 1851, doi. 10.1093/hmg/7.12.1851
By:
- Craig, Holly D.;
- Günel, Murat;
- Cepeda, Obed;
- Johnson, Eric W.;
- Ptacek, Louis;
- Steinberg, Gary K.;
- Ogilvy, Christopher S.;
- Berg, Michael J.;
- Crawford, Stephen C.;
- Scott, R. Michael;
- Steichen‐Gersdorf, Elizabeth;
- Sabroe, Ruth;
- Kennedy, C. T. C.;
- Mettler, Gabrielle;
- Beis, M. Jill;
- Fryer, Alan;
- Awad, Issam A.;
- Lifton, Richard P.
Publication type:
Article
Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 2, p. 327
By:
- Simard, Jacques;
- Rhéaume, Eric;
- Lebianc, Jean-François;
- Wallis, Simon C.;
- Joplln, Graham F.;
- Gilbey, Stephen;
- Allanson, Judith;
- Mettler, Gabrielle;
- Bettendorf, Markus;
- Heinrich, Udo;
- Labrie, Fernand
Publication type:
Article

Found: 6

Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.

Peer Observed Interaction and Structured Evaluation (POISE): A Canadian Experience with Peer Supervision for Genetic Counselors.

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27.

Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.