Search

Author/Creator Tudini, Emma

1. Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions. Issue 12 (2nd October 2022)

Authors:
Davidson, Aimee L.; Kondrashova, Olga; Leonard, Conrad; Wood, Scott; Tudini, Emma; Hollway, Georgina E.; Pearson, John V.; Newell, Felicity; Spurdle, Amanda B.; Waddell, Nicola
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2054
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Issue 12 (24th September 2018)

Authors:
Burke, Leslie J.; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J.; Shirley, Ben C.; Whiley, Phillip; Parsons, Michael T.; De Leeneer, Kim; Gutiérrez‐Enríquez, Sara; Santamariña, Marta; Caputo, Sandrine M.; Santana dos Santos, Elizabeth; Soukupova, Jana; Janatova, Marketa; Zemankov...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2025
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype. Issue 9 (25th October 2021)

Authors:
Ip, Emilia; McNeil, Catriona; Grimison, Peter; Scheinberg, Tahlia; Tudini, Emma; Ho, Gladys; Scott, Rodney J; Brown, Christina; Sandroussi, Charbel; Guitera, Pascale; Spurdle, Amanda B; Goodwin, Annabel
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
912
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype. Issue 9 (25th October 2021)

Authors:
Ip, Emilia; McNeil, Catriona; Grimison, Peter; Scheinberg, Tahlia; Tudini, Emma; Ho, Gladys; Scott, Rodney J; Brown, Christina; Sandroussi, Charbel; Guitera, Pascale; Spurdle, Amanda B; Goodwin, Annabel
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
912
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. 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) ↗

6. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Issue 12 (9th November 2020)

Authors:
Tudini, Emma; Davidson, Aimee L; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda; Susman, Rachel; Townshend, Sharron; Trainer, Alison H; Tucker, Katherine M; Mitchell, Gillian; James, Pa...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 12(2021)
Page Start:
853
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. 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) ↗

8. The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Issue 5 (6th April 2018)

Authors:
Colombo, Mara; Lòpez‐Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B. Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmid...
Journal:
Human mutation
Issue:
Volume 39:Issue 5(2018)
Page Start:
729
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Issue 6 (8th April 2019)

Authors:
Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis C; Brown, Melissa; Burke, Leslie; de la Hoya, Miguel; Domchek, Susan; Dörk, Thilo; Firth, Helen V; Monteiro, Alvaro N; Mensenkamp, Arjen; Parsons, Michael T; Radice, Paolo; Robson, Mark; Tischkowitz, Marc; Tudini, Emma; Turnbull, C...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 6(2019)
Page Start:
347
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗