OpenURL Connection Search

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

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
By:
- Bernkopf, Marie;
- Abdullah, Ummi B.;
- Bush, Stephen J.;
- Wood, Katherine A.;
- Ghaffari, Sahar;
- Giannoulatou, Eleni;
- Koelling, Nils;
- Maher, Geoffrey J.;
- Thibaut, Loïc M.;
- Williams, Jonathan;
- Blair, Edward M.;
- Kelly, Fiona Blanco;
- Bloss, Angela;
- Burkitt-Wright, Emma;
- Canham, Natalie;
- Deng, Alexander T.;
- Dixit, Abhijit;
- Eason, Jacqueline;
- Elmslie, Frances;
- Gardham, Alice
Publication type:
Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5198, doi. 10.1093/brain/awad292
By:
- Stefanski, Arthur;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Montanucci, Ludovica;
- Gati, Cornelius;
- Klöckner, Chiara;
- Johannesen, Katrine M;
- Goodspeed, Kimberly;
- Macnee, Marie;
- Deng, Alexander T;
- Aledo-Serrano, Ángel;
- Borovikov, Artem;
- Kava, Maina;
- Bouman, Arjan M;
- Hajianpour, M J;
- Pal, Deb K;
- Engelen, Marc;
- Hagebeuk, Eveline E O;
- Shinawi, Marwan;
- Heidlebaugh, Alexis R
Publication type:
Article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
By:
- Pagnamenta, Alistair T;
- Lise, Stefano;
- Harrison, Victoria;
- Stewart, Helen;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Deng, Alexander T;
- Murphy, Valerie Elizabeth;
- Akha, Elham Sadighi;
- Rimmer, Andy;
- Mathieson, Iain;
- Knight, Samantha JL;
- Kini, Usha;
- Taylor, Jenny C;
- Keays, David A
Publication type:
Article
Digital Fellowships: Inspiring use of contemporary technologies in applied healthcare.
Published in:
2023
By:
- Salisbury, Thomas;
- Deng, Alexander T.;
- Burch, Emily;
- Godfrey, Alan
Publication type:
Editorial
Capturing heart valve development with Gene Ontology.
Published in:
Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1251902
By:
- Ahmed, Saadullah H.;
- Deng, Alexander T.;
- Huntley, Rachael P.;
- Campbell, Nancy H.;
- Lovering, Ruth C.
Publication type:
Article

Found: 5

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Digital Fellowships: Inspiring use of contemporary technologies in applied healthcare.

Capturing heart valve development with Gene Ontology.