Journal of Medical Genetics: 57 (5)

Developmental defects

Review: Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (8 November, 2019)
Patrizia Sarogni, Maria M Pallotta, Antonio Musio
Short report: Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development (29 October, 2019)
Laurie A Steiner, Michael Getman, Gillian M Schiralli Lester, M Anwar Iqbal, Philip Katzman, Przemyslaw Szafranski, Pawel Stankiewicz, Soumyaroop Bhattacharya, Thomas Mariani, Gloria Pryhuber, Xin Lin, Jennifer L Young, David A Dean, Kristin Scheible

Original research: 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations (4 October, 2018)
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras

Original research:
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome
(29 November, 2019)
Hellen Houlleberghs, Marleen Dekker, Jarnick Lusseveld, Wietske Pieters, Thomas van Ravesteyn, Senno Verhoef, Robert M W Hofstra, Hein te Riele
Short report:
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
(5 October, 2018)
Hildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom, Göran Jönsson

Original research: Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort (25 December, 2019)
Mahmoud R. Fassad, Mitali P. Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V. Rogers, Sarah Ollosson, Claire Jackson, Patricia Goggin, Robert A. Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O'Callaghan, Deborah J Morris-Rosendahl, Christopher M. Watson, Robert Wilson, Siobhan Carr, Woolf Walker, Andreia Pitno, Susana Lopes, Heba Morsy, Walaa Shoman, Luisa Pereira, Carolina Constant, Michael R. Loebinger, Eddie M.K. Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S. Lucas, Claire Hogg, Hannah M. Mitchison

Original research: Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease (29 November, 2019)
Hampton Leonard, Cornelis Blauwendraat, Lynne Krohn, Faraz Faghri, Hirotaka Iwaki, Glen Ferguson, Aaron G Day-Williams, David J Stone, Andrew B Singleton, Mike A Nalls, Ziv Gan-Or

Original research: Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome (10 January, 2020)
Chaker Aloui, Stéphanie Guey, Eva Pipiras, Manoelle Kossorotoff, Sophie Guéden, Michaelle Corpechot, Pierre Bessou, Jean-Michel Pedespan, Marie Husson, Dominique Hervé, Florence Riant, Markus Kraemer, Julie Steffann, Olivier Quenez, Elisabeth Tournier-Lasserve

Original research:
The clinical relevance of intragenic NRXN1 deletions
(13 January, 2020)
Nele Cosemans, Laura Vandenhove, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Hilde Olivié, Thomy de Ravel, Els Ortibus, Eric Legius, Peter Aerssens, Jeroen Breckpot, Joris R. Vermeesch, Sanbing Shen, Jacqueline Fitzgerald, Louise Gallagher, Hilde Peeters
Short report:
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
(7 October, 2019)
Vittoria Disciglio, Candida Fasano, Filomena Cariola, Giovanna Forte, Valentina Grossi, Paola Sanese, Martina Lepore Signorile, Nicoletta Resta, Claudio Lotesoriere, Alessandro Stella, Ivan Lolli, Cristiano Simone