Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann

10.1136/jmedgenet-2021-107843

June 18, 2021

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

10.1136/jmedgenet-2020-107518

May 31, 2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann

10.1136/jmedgenet-2021-107769

June 25, 2021

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull, 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, Vishakha Tripathi, Mina Ryten, Louise Izatt, Anjana Kulkarni, Adam Shaw, Joanna Campbell, Huw Thomas, Daniel Chubb, Bethany Torr, 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, 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, Jackie Cook, Hazel Clouston, Anne-Cecile Hogg, Sabrina Talukdar, Lorraine Hawkes, Laura Cobbold, Kate Tatton-Brown, Helen Hanson, Katie Snape, Charlene Crosby, Ayaovi Jimenez, 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

10.1136/jmedgenet-2020-107248

November 18, 2020

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki

10.1136/jmedgenet-2020-107595

April 5, 2021

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

10.1136/jmedgenet-2020-107257

May 18, 2021

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

Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability

Mbarka Bchetnia, Luigi Bouchard, Jean Mathieu, Philippe Campeau, Charles Morin, Diane Brisson, Anne-Marie Laberge, Hélène Vézina, Daniel Gaudet, Catherine Laprise

10.1136/jmedgenet-2021-107809

April 28, 2021

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

SETD1B-associated neurodevelopmental disorder

Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study, CAUSES Study, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M Elliott, Anna Lehman, Larry Lynd, Jill Mwenifumbo, Tanya N Nelson, Clara van Karnebeek, Jan M Friedman, EPGEN Study, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E Buerki, Tara Candido, Patrice Eydoux, Daniel M Evans, William T Gibson, Gabriella Horvath, Linda Huh, Tanya N Nelson, Graham Sinclair, Tamsin Tarling, Eric B Toyota, Katelin N Townsend, Margot I Van Allen, Clara van Karnebeek, Suzanne Vercauteren

10.1136/jmedgenet-2019-106756

June 16, 2020

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