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Psychopathology in mothers of children with pathogenic Copy Number Variants
Maria Niarchou, Adam C. Cunningham, Samuel J. R. A. Chawner, Hayley Moulding, Matthew Sopp, IMAGINE-ID, Jeremy Hall, Michael J. Owen, Marianne B.M. van den Bree

Journal of Medical Genetics Nov 2022, jmedgenet-2022-108752; DOI: 10.1136/jmg-2022-108752
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, Genomics England Research Consortium, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson

Journal of Medical Genetics Dec 2022, 59 (12) 1151-1164; DOI: 10.1136/jmedgenet-2022-108476
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
David Hessl, Hilary Rosselot, Robert Miller, Glenda Espinal, Jessica Famula, Stephanie L Sherman, Peter K Todd, Ana Maria Cabal Herrera, Karen Lipworth, Jonathan Cohen, Deborah A Hall, Maureen Leehey, Jim Grigsby, Jayne Dixon Weber, Sundus Alusi, Anne Wheeler, Melissa Raspa, Tamaro Hudson, Sonya K Sobrian

Journal of Medical Genetics Dec 2022, 59 (12) 1165-1170; DOI: 10.1136/jmedgenet-2022-108568
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull

Journal of Medical Genetics Dec 2022, 59 (12) 1179-1188; DOI: 10.1136/jmg-2022-108655
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study
Xin Yang, Mikael Eriksson, Kamila Czene, Andrew Lee, Goska Leslie, Michael Lush, Jean Wang, Joe Dennis, Leila Dorling, Sara Carvalho, Nasim Mavaddat, Jacques Simard, Marjanka K Schmidt, Douglas F Easton, Per Hall, Antonis C Antoniou

Journal of Medical Genetics Dec 2022, 59 (12) 1196-1205; DOI: 10.1136/jmg-2022-108806
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence
Andrew Lee, Nasim Mavaddat, Alex Cunningham, Tim Carver, Lorenzo Ficorella, Stephanie Archer, Fiona M Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jürgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M Mooij, Paul PD Pharoah, Douglas F Easton, Antonis C Antoniou

Journal of Medical Genetics Dec 2022, 59 (12) 1206-1218; DOI: 10.1136/jmedgenet-2022-108471
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence
Edgard Verdura, Bruno Senger, Miquel Raspall-Chaure, Agatha Schlüter, Nathalie Launay, Montserrat Ruiz, Carlos Casasnovas, Agustí Rodriguez-Palmero, Alfons Macaya, Hubert Dominique Becker, Aurora Pujol

Journal of Medical Genetics Dec 2022, 59 (12) 1227-1233; DOI: 10.1136/jmg-2022-108529
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N Rosenthal, Emma Roisin Woodward, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, On behalf of Consensus meeting attendees, Fiona Lalloo

Journal of Medical Genetics Nov 2022, jmg-2022-108898; DOI: 10.1136/jmg-2022-108898
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor

Journal of Medical Genetics Nov 2022, jmedgenet-2022-108753; DOI: 10.1136/jmg-2022-108753
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies

Journal of Medical Genetics Nov 2022, jmg-2022-108862; DOI: 10.1136/jmg-2022-108862

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