Online First

May 20, 2022

May 16, 2022

May 09, 2022

April 21, 2022

April 12, 2022

April 08, 2022

April 07, 2022

April 06, 2022

March 31, 2022

March 09, 2022

March 08, 2022

  • Position statement
    UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
    Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher on behalf of UK Cancer Genetics Centres

March 07, 2022

  • Genotype-phenotype correlations
    Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
    Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta

March 01, 2022

  • Neurogenetics
    Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
    Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre

February 28, 2022

February 11, 2022

February 04, 2022

February 03, 2022

January 25, 2022

January 17, 2022

  • Cancer genetics
    Long-term tumour dormancy in a BRCA1 heterozygote
    Setor Amuzu, Lili Fu, Nadine Demko, Barbara Rivera, Celine Domecq, Leanne de Kock, Nancy Hamel, Lucy Gilbert, Paz Polak, Jiannis Ragoussis, William D Foulkes

December 22, 2021

December 16, 2021

December 07, 2021

December 06, 2021

November 08, 2021

January 04, 2021

Pages