Special collections

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes
Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D’Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrezan

Journal of Medical Genetics Jan 2024, 61 (1) 61-68; DOI: 10.1136/jmg-2023-109269
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
Sara Fernández-Castillejo, Bàrbara Roig, Mireia Melé, Sara Serrano, Mònica Salvat, Montserrat Querol, Joan Brunet, Marta Pineda, Adela Cisneros, David Parada, Joan Badia, Joan Borràs, Marta Rodríguez-Balada, Josep Gumà

Journal of Medical Genetics Jan 2024, 61 (1) 69-77; DOI: 10.1136/jmg-2023-109389
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali

Journal of Medical Genetics Jan 2024, 61 (1) 93-101; DOI: 10.1136/jmg-2023-109340
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Zeynep Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt

Journal of Medical Genetics Sep 2023, 60 (9) 842-849; DOI: 10.1136/jmg-2022-108982
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen

Journal of Medical Genetics Sep 2023, 60 (9) 859-865; DOI: 10.1136/jmg-2022-108918
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

Journal of Medical Genetics Sep 2023, 60 (9) 885-893; DOI: 10.1136/jmg-2022-108725
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
Natalia Ogonowski, Hernando Santamaria-Garcia, Sandra Baez, Andrea Lopez, Andrés Laserna, Elkin Garcia-Cifuentes, Paola Ayala-Ramirez, Ignacio Zarante, Fernando Suarez-Obando, Pablo Reyes, Marcelo Kauffman, Nick Cochran, Michael Schulte, Daniel W Sirkis, Salvatore Spina, Jennifer S Yokoyama, Bruce L Miller, Kenneth S Kosik, Diana Matallana, Agustín Ibáñez

Journal of Medical Genetics Sep 2023, 60 (9) 894-904; DOI: 10.1136/jmg-2022-108627
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
Naixin Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Li Jin, He-Feng Huang, Songchang Chen, Chenming Xu

Journal of Medical Genetics Sep 2023, 60 (9) 910-917; DOI: 10.1136/jmg-2022-108920
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
Alison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely

Journal of Medical Genetics Sep 2023, 60 (9) 925-931; DOI: 10.1136/jmg-2023-109183
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf

Journal of Medical Genetics Aug 2023, 60 (8) 747-759; DOI: 10.1136/jmg-2022-108931

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