1. 210 Clinical Utility of Gene Panel and Clinical Exome Testing in Cardiac Disease. (3rd June 2016) Authors: Gable, Mary; Buxton, Chris; Woodward, Geoff; Wadsley, Marc; Honeychurch, Julie; Joanne, Davies; Newbury-Ecob, Ruth; Low, Karen; Donaldson, Alan; Affleck, Josphine; Whittington, Rebecca; Greenslade, Mark; Williams, Maggie Journal: Heart Issue: Volume 102(2016)Supplement 6 Page Start: A139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Issue 11 (November 2021) Authors: Bancroft, Elizabeth K; Page, Elizabeth C; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rot... Journal: Lancet oncology Issue: Volume 22:Issue 11(2021) Page Start: 1618 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. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021) Authors: Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016) Authors: Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. (6th April 2013) Authors: Jafri, Mariam; Whitworth, James; Rattenberry, Eleanor; Vialard, Lindsey; Kilby, Gail; Kumar, Ajith V.; Izatt, Louise; Lalloo, Fiona; Brennan, Paul; Cook, Jackie; Morrison, Patrick J.; Canham, Natalie; Armstrong, Ruth; Brewer, Carole; Tomkins, Susan; Donaldson, Alan; Barwell, Julian; Cole, Trevor ... Journal: Clinical endocrinology Issue: Volume 78:Number 6(2013:Jun.) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (12th October 2018) Authors: Qian, Frank; Wang, Shengfeng; Mitchell, Jonathan; McGuffog, Lesley; Barrowdale, Daniel; Leslie, Goska; Oosterwijk, Jan C; Chung, Wendy K; Evans, D Gareth; Engel, Christoph; Kast, Karin; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agnarsson, Bjarni A; Aittomäki, Kristiina; Alducci, Elisa; Andr... Journal: Journal of the National Cancer Institute Issue: Volume 111:Number 4(2019) Page Start: 350 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. (6th February 2017) Authors: Symonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Sch... Journal: Epilepsia Issue: Volume 58:issue 4(2017) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021) Authors: Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ... Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY). Issue 4 (12th November 2019) Authors: Bancroft, Elizabeth K; Saya, Sibel; Brown, Emma; Thomas, Sarah; Taylor, Natalie; Rothwell, Jeanette; Pope, Jennifer; Chamberlain, Anthony; Page, Elizabeth; Benafif, Sarah; Hanson, Helen; Dias, Alexander; Mikropoulos, Christos; Izatt, Louise; Side, Lucy; Walker, Lisa; Donaldson, Alan; Cook, Jackie... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗