Online First

January 27, 2023

January 25, 2023

January 23, 2023

January 20, 2023

January 19, 2023

January 12, 2023

January 05, 2023

January 04, 2023

January 02, 2023

December 29, 2022

December 26, 2022

  • Population genetics
    Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records
    Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull

December 23, 2022

  • Cancer genetics
    Development of a comprehensive approach to adult hereditary cancer testing in Ontario
    Kathleen Anne Bell, Raymond Kim, Melyssa Aronson, Brittany Gillies, Arif Ali Awan, Kathy Chun, Jennifer Hart, Rachel Healey, Linda Kim, Goran Klaric, Karen Panabaker, Peter J B Sabatini, Bekim Sadikovic, Shamini Selvarajah, Amanda C Smith, Tracy L Stockley, Andrea K Vaags, Andrea Eisen, Aaron Pollett, Harriet Feilotter

December 21, 2022

December 20, 2022

  • Cancer genetics
    Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort
    Irving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, Mark Harland, Karen A Pooley, Mauricio Gerardo Martil de la Garza, Sofia Obolenski, James Hewinson, Chi C Wong, Vivek Iyer, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Gerardo Andrés Cisneros, Mark M Iles, David J Adams, Carla Daniela Robles-Espinoza

December 19, 2022

December 08, 2022

December 07, 2022

November 30, 2022

November 29, 2022

  • Novel disease loci
    Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects
    Fanlei Meng, Xin Li, Jinlu Zhang, Zhiyang Gao, Xue Yang, Ziqi Liu, Yajie Liu, Tong Guo, Likun Wang, Liping Yang, Zhaohui Wang
  • Genotype-phenotype correlations
    Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
    Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
  • Cancer genetics
    Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
    Estela Carrasco, Adrià López-Fernández, Marta Codina-Sola, Irene Valenzuela, AM Cueto-González, Guillermo Villacampa, Victor Navarro, Sara Torres-Esquius, Dolors Palau, Mara Cruellas, Maite Torres, Belen Perez-Dueñas, Anna Abulí, Orland Diez, Constantino Sábado-Álvarez, Elena García-Arumí, Eduardo F Tizzano, Lucas Moreno, Judith Balmaña
  • Copy-number variation
    Psychopathology in mothers of children with pathogenic Copy Number Variants
    Maria Niarchou, Adam C. Cunningham, Samuel J. R. A. Chawner, Hayley Moulding, Matthew Sopp, IMAGINE-ID, Jeremy Hall, Michael J. Owen, Marianne B.M. van den Bree

November 28, 2022

November 21, 2022

November 15, 2022

November 10, 2022

November 03, 2022

November 01, 2022

  • Cancer genetics
    The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
    Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N Rosenthal
  • Neurogenetics
    New insights into CC2D2A-related Joubert syndrome
    Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

October 28, 2022

October 21, 2022

  • Cancer genetics
    APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    Roseline Vibert, Jessica Le Gall, Bruno Buecher, Emmanuelle Mouret-Fourme, Guillaume Bataillon, Véronique Becette, Olfa Trabelsi-Grati, Virginie Moncoutier, Catherine Dehainault, Jennifer Carriere, Mathias Schwartz, Voreak Suybeng, Ivan Bieche, Chrystelle Colas, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Lisa Golmard
  • Neurogenetics
    Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
    Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Héron, Solveig Heide, Ariane Herson, Juliette Hennessy, Elodie Petit, Marcela Gargiulo, Alexandra Durr
  • Cancer genetics
    Germline mutations in WNK2 could be associated with serrated polyposis syndrome
    Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel

October 14, 2022

October 10, 2022

September 30, 2022

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