Online First

February 22, 2024

February 13, 2024

February 10, 2024

February 01, 2024

January 31, 2024

January 30, 2024

January 25, 2024

January 16, 2024

January 08, 2024

December 30, 2023

December 22, 2023

  • Clinical guidelines
    Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
    Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Clare Turnbull
  • Genotype-phenotype correlations
    Breast cancer risk in NF1-deleted patients
    Laurence Pacot, Julien Masliah-Planchon, Adina Petcu, Benoit Terris, Marion Gauthier Villars, James Lespinasse, Pierre Wolkenstein, Anne Vincent-Salomon, Dominique Vidaud, Eric Pasmant

December 19, 2023

December 16, 2023

December 07, 2023

  • Copy-number variation
    Titin copy number variations associated with dominant inherited phenotypes
    Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan H Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossée

November 30, 2023

November 29, 2023

November 27, 2023

November 21, 2023

November 18, 2023

November 15, 2023

November 14, 2023

November 06, 2023

November 03, 2023

October 27, 2023

October 25, 2023

  • Review
    Further characterisation of ARX-related disorders in females due to inherited or de novo variants
    Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaetan Lesca, Christel Depienne, Caroline Nava, Agnès Rastetter, Aurore Curie, Laurence Cuisset, Vincent Des Portes, Mathieu Milh, Perrine Charles, Cyril Mignot, Delphine Héron

October 10, 2023

September 29, 2023

September 21, 2023

  • Diagnostics
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack

September 11, 2023

September 01, 2023

August 19, 2023

  • Genotype-phenotype correlations
    Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
    Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley G Patterson, Raymond Louie, Filippo Pinto e Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva MC Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens

August 16, 2023

August 14, 2023

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