Journal of Medical Genetics: 61 (5)

Genotype-phenotype correlations

Review: Mosaic RASopathies concept: different skin lesions, same systemic manifestations? (30 January, 2024)
Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova, Martine Jacot-Guillarmod, Kanetee Busiah, Fabienne Giuliano, Michel Gilliet, Isis Atallah
Short report: Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants (31 January, 2024)
Gabrielle Norrish, Marisa Gasparini, Ella Field, Elena Cervi, Juan Pablo Kaski
Short report:
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers
(30 December, 2023)
Jesús Piqueras-Flores, Eduardo Villacorta-Argüelles, Joseph Galvin, Vicente Climent-Payá, Luis Enrique Escobar-López, Almudena Amor-Salamanca, Soledad Garcia-Hernandez, Sean Esmonde, Jorge Martínez-Del Río, Maeve Soto-Pérez, Pablo Garcia-Pavia, Juan Pablo Ochoa
Commentary:
Breast cancer risk in NF1-deleted patients
(22 December, 2023)
Laurence Pacot, Julien Masliah-Planchon, Adina Petcu, Benoit Terris, Marion Gauthier Villars, James Lespinasse, Pierre Wolkenstein, Anne Vincent-Salomon, Dominique Vidaud, Eric Pasmant

Original research:
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
(27 November, 2023)
Chujun Wu, Zaiqiang Zhang
Original research: Iron and risk of dementia: Mendelian randomisation analysis in UK Biobank (8 January, 2024)
Francesco Casanova, Qu Tian, Janice L Atkins, Andrew R Wood, Daniel Williamson, Yong Qian, David Zweibaum, Jun Ding, David Melzer, Luigi Ferrucci, Luke C Pilling
Original research: Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights (8 March, 2024)
Burcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann

Original research:
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
(1 February, 2024)
Cristina Perez-Becerril, George J Burghel, Claire Hartley, Charles F Rowlands, D Gareth Evans, Miriam J Smith
Original research: Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort (31 January, 2024)
Xiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan
Original research: Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome (8 March, 2024)
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff

Original research:
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting
(19 December, 2023)
Seema Panchal, Radhika Mahajan, Navneet Aujla, Paul McKay, Selina Casalino, Vanessa Di Gioacchino, George S Charames, Maude Lefebvre, Kelly A Metcalfe, Mohammad Reza Akbari, Jeanna Marie McCuaig, Jordan Lerner-Ellis
Original research:
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
(30 December, 2023)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti

Original research: BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome (31 January, 2024)
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock