Search

Author/Creator Walker, Logan C.

2. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022)

Authors:
Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1921
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines. Issue 10 (13th August 2013)

Authors:
Walker, Logan C.; Whiley, Phillip J.; Houdayer, Claude; Hansen, Thomas V. O.; Vega, Ana; Santamarina, Marta; Blanco, Ana; Fachal, Laura; Southey, Melissa C.; Lafferty, Alan; Colombo, Mara; De Vecchi, Giovanna; Radice, Paolo; Spurdle, Amanda B.
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1424
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019)

Authors:
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1557
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. Issue 2 (7th February 2019)

Authors:
Brandão, Rita D.; Mensaert, Klaas; López‐Perolio, Irene; Tserpelis, Demis; Xenakis, Markos; Lattimore, Vanessa; Walker, Logan C.; Kvist, Anders; Vega, Ana; Gutiérrez‐Enríquez, Sara; Díez, Orland; de la Hoya, Miguel; Spurdle, Amanda B.; De Meyer, Tim; Blok, Marinus J.
Journal:
International journal of cancer
Issue:
Volume 145:Issue 2(2019)
Page Start:
401
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗