Phenotype

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, Sophie Rivière, Julie Seguier, Mallorie Kerjouan, Christian Lavigne, Hélène Maillard, Pascal Magro, Laurent Alric, Dan Lipsker, Antoine Parrot, Vanessa Leguy, Claire Vanlemmens, Laurent Guibaud, Miikka Vikkula, Melanie Eyries, Pierre-Jean Valette, Sophie Giraud

Journal of Medical Genetics Sep 2023, 60 (9) 905-909; DOI: 10.1136/jmg-2022-109107
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

Journal of Medical Genetics Aug 2023, 60 (8) 791-796; DOI: 10.1136/jmg-2022-108566
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

Journal of Medical Genetics Feb 2023, 60 (2) 163-173; DOI: 10.1136/jmedgenet-2021-108093
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

Journal of Medical Genetics Jun 2023, 60 (6) 578-586; DOI: 10.1136/jmg-2022-108754
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan

Journal of Medical Genetics Jun 2023, 60 (6) 597-607; DOI: 10.1136/jmg-2022-108734
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier

Journal of Medical Genetics May 2023, 60 (5) 498-504; DOI: 10.1136/jmg-2022-108739
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Harold Matthews, Michiel Vanneste, Kaitlin Katsura, David Aponte, Michael Patton, Peter Hammond, Gareth Baynam, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

Journal of Medical Genetics Mar 2023, 60 (3) 285-293; DOI: 10.1136/jmedgenet-2021-108366
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

Journal of Medical Genetics Jan 2023, 60 (1) 65-73; DOI: 10.1136/jmedgenet-2021-108006
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
Jean Pierre Bayley, Birke Bausch, Jeroen C Jansen, Erik F Hensen, Karin van der Tuin, Eleonora PM Corssmit, Peter Devilee, Hartmut PH Neumann

Journal of Medical Genetics Jan 2023, 60 (1) 25-32; DOI: 10.1136/jmedgenet-2020-107656
Variable skeletal phenotypes associated with biallelic variants in PRKG2
Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor

Journal of Medical Genetics Oct 2022, 59 (10) 947-950; DOI: 10.1136/jmedgenet-2021-108027

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