Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

10.1136/jmedgenet-2020-106948

June 26, 2020

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

Population-based targeted sequencing of 54 candidate genes identifies as a susceptibility gene for high-grade serous ovarian cancer

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah

10.1136/jmedgenet-2019-106739

June 16, 2020

UKCGG Consensus Group guidelines for the management of patients with constitutional pathogenic variants

Helen Hanson, Angela F Brady, Gillian Crawford, Rosalind A Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D Gareth Evans, Consensus Group Members, Muna Ahmed, Paola Angelini, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Mark Davis, Bianca de Souza, Verity Easton, Ian Frayling, Angela George, Andrew Gogbashian, Vicky Goh, Andrew Green, Lynn Greenhalgh, Michael Farrell, Dorothy Halliday, Rosalyn Jewell, Robin Jones, Claire Lloyd, Baharak Mohammadi, Alex Murray, Kai Ren Ong, Erika Pace, Pan Pantziarka, Michelle Potter, Sarah Pugh, Gillian Rea, Beverley Speight, Stavros Stivros, David Swienton, Clare Turnbull, Leslie Walker, Richard Whitehouse

10.1136/jmedgenet-2020-106876

June 22, 2020

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank

Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

10.1136/jmedgenet-2019-106676

March 5, 2020

Novel loss-of-function mutation in is associated with severe developmental delay and paediatric lethality

Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson

10.1136/jmedgenet-2020-106873

June 22, 2020

Mutation in the MICOS subunit gene (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lucia S. F. Santos, Ricardo Lehtonen R. de Souza, Erika Fernandez-Vizarra, Alexander J. Whitworth, Massimo Zeviani

10.1136/jmedgenet-2020-106861

May 21, 2020

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

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

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