Open questions on the nature of Parkinson’s disease: from triggers to spreading pathology

Lei Mou, Wei Ding, Pedro Fernandez-Funez

10.1136/jmedgenet-2019-106210

September 4, 2019

Editor's choice

Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19

Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H Kim

10.1136/jmedgenet-2020-107418

October 16, 2020

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

Chantal Babb de Villiers, Mark Kroese, Sowmiya Moorthie

10.1136/jmedgenet-2019-106763

May 6, 2020

Editor's choice

A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau

Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

10.1136/jmedgenet-2020-107308

October 16, 2020

CCMG practice guideline: laboratory guidelines for next-generation sequencing

Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley

10.1136/jmedgenet-2019-106152

July 12, 2019

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

10.1136/jmedgenet-2019-106084

May 14, 2020

Assessment of mismatch repair deficiency in ovarian cancer

Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans

10.1136/jmedgenet-2020-107270

September 11, 2020

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull, On behalf of the CanVIG-UK, Stephen Abbs, Patrick Tarpey, Jonathan Bruty, James Drummond, James Whitworth, Anne Ramsay Bowden, Marc Tischowitz, Eamonn Maher, Shirley Heggarty, Sean Hegarty, Rosalind Martin, Peter Logan, Claire Byrne, Yvonne Wallis, Samantha Butler, Rachel Hart, Lowri Hughes, Kim Reay, Kai-Ren Ong, Joanne Mason, Ian Tomlinson, Ian Frayling, Sheila Palmer-Smith, Julian Sampson, Alex Murray, Munaza Ahmed, Louise Kiely, Louise Busby, Claire Brooks, Alison Taylor-Beadling, Ajith Kumar, Mina Ryten, Louise Izatt, Anjana Kulkarni, Adam Shaw, Joanna Campbell, Huw Thomas, Daniel Chubb, Mary Alikian, Cankut Cubuk, Rachel Robinson, Brendan Mullaney, Julian Adlard, Karen-Lynn Greenhalgh, Emma Howard, Virginia Clowes, Angela Brady, George Burghel, Emma Woodward, Philip T Smith, Jade L Harris, Naomi L Bowers, Claire L Hartley, Ronnie Wright, Gareth Evans, Fiona Lalloo, Andrew Wallace, John Burn, James Tellez, Sarah Mackenzie, Helen Powell, Stephen Tennant, Joanna Tolmie, Dawn O'Sullivan, Rosemarie Davidson, Jonathan Grant, Daniel Stobo, Aisha Ansari, Jennie Murray, David Moore, Rachael Tredwell, Joanne Field, Kirsty Bradshaw, Rachel Harrison, Logan Walker, Trudi Mcdevitt, Marie Duff, Catherine Clabby, Treena Cranston, Tina Bedenham, Evgenia Petrides, Lara Hawkes, Fiona McRonald, Sian Ellard, Ruth Cleaver, Carole Brewer, Nick Woodwaer, Stacey Daniels, Alison Callaway, Khalid Tobal, Shadi Albaba, Sarah Dell, Rodney Nyanhete, Richard Kirk, Mark Watson, Miranda Durkie, Katie Snape, Jackie Cook, Hazel Clouston, Anne-Cecile Hogg, Sabrina Talukdar, Lorraine Hawkes, Laura Cobbold, Kate Tatton-Brown, Helen Hanson, Charlene Crosby, Ayaovi Hadonou, Zoe Kemp, Terri Mcveigh, Clare Turnbull, Alice Garrett, Cathal O'Brien, Laura Yarram, Kenneth Smith, Helen Williamson, Alan Donaldson, Julian Barwell, Matilda Bradford, Lucy Side, Diana Eccles, Diana Baralle, Anneke Lucassen, Vishakha Tripathi, Juan Carlos Del Rey Jimenez

10.1136/jmedgenet-2019-106759

March 13, 2020

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

10.1136/jmedgenet-2020-107251

September 29, 2020

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

10.1136/jmedgenet-2020-107003

August 25, 2020