1. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Issue 1 (17th October 2016) Authors: Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, ... Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GENE-08. SCHWANNOMATOSIS SCHWANNOMAS HARBOR DISTINCT DNA METHYLATION PROFILES. (5th November 2018) Authors: Mansouri, Sheila; Paganini, Irene; Karimi, Shirin; Suppiah, Suganth; Mamatjan, Yasin; Singh, Olivia; Stemmer-Rachamimov, Anat; Papi, Laura; Aldape, Kenneth; Zadeh, Gelareh Journal: Neuro-oncology Issue: Volume 20(2018)Supplement 6 Page Start: vi104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Issue 1 (December 2015) Authors: Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline; Soucy, Penny; Terry, Mary; Chung, Wendy; Goldgar, David; Buys, Saundra; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia; v... Journal: Breast cancer research Issue: Volume 17:Issue 1(2015) Page Start: 1 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. EPCO-04. GENOMIC AND EPIGENOMIC HALLMARKS OF SCHWANNOMATOSIS SCHWANNOMAS. (9th November 2020) Authors: Mansouri, Sheila; Suppiah, Suganth; Mamatjan, Yasin; Paganini, Irene; Liu, Jeff; Karimi, Shirin; Patil, Vikas; Nassiri, Farshad; Singh, Olivia; Sundaravadanam, Yogi; Rath, Prisni; Sestini, Robert; Gensini, Francesca; Agnihotri, Sameer; Blakeley, Jaishri; Ostrow, Kimberly; Largaespada, David; Plot... Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 2 Page Start: ii69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria12. Issue 3 (7th February 2013) Authors: Plotkin, Scott R.; Blakeley, Jaishri O.; Evans, D. Gareth; Hanemann, C. Oliver; Hulsebos, Theo J.M.; Hunter‐Schaedle, Kim; Kalpana, Ganjam V.; Korf, Bruce; Messiaen, Ludwine; Papi, Laura; Ratner, Nancy; Sherman, Larry S.; Smith, Miriam J.; Stemmer‐Rachamimov, Anat O.; Vitte, Jeremie; Giovannini, ... Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH‐Associated Polyposis. Issue 5 (28th August 2012) Authors: Pin, Elisa; Pastrello, Chiara; Tricarico, Rossella; Papi, Laura; Quaia, Michele; Fornasarig, Mara; Carnevali, Ileana; Oliani, Cristina; Fornasin, Alessio; Agostini, Marco; Maestro, Roberta; Barana, Daniela; Aretz, Stefan; Genuardi, Maurizio; Viel, Alessandra Journal: International journal of cancer Issue: Volume 132:Issue 5(2013:Mar. 01) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel neurofibromatosis type 2 mutation presenting with status epilepticus. Issue 1 (March 2014) Authors: DiFrancesco, Jacopo C.; Sestini, Roberta; Cossu, Federica; Bolognesi, Martino; Sala, Elena; Mariani, Silvana; Saracchi, Enrico; Papi, Laura; Ferrarese, Carlo Journal: Epileptic disorders Issue: Volume 16:Issue 1(2014:Mar.) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases. Issue 4 (17th April 2023) Authors: Becherucci, Francesca; Landini, Samuela; Palazzo, Viviana; Cirillo, Luigi; Raglianti, Valentina; Lugli, Gianmarco; Tiberi, Lucia; Dirupo, Elia; Bellelli, Stefania; Mazzierli, Tommaso; Lomi, Jacopo; Ravaglia, Fiammetta; Sansavini, Giulia; Allinovi, Marco; Giannese, Domenico; Somma, Chiara; Spatoli... Journal: Journal of the American Society of Nephrology Issue: Volume 34:Issue 4(2023) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗