Journal of Medical Genetics

Limitations of genomics to predict and treat autism: a disorder born in the womb
Yehezkel Ben-Ari, Étienne É Danchin

Journal of Medical Genetics May 2025, 62 (5) 303-310; DOI: 10.1136/jmg-2024-110224
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service
Alexander Roe, Andrea Forman, Fiona Lalloo, Terri P McVeigh, Helen Hanson, Katie Snape

Journal of Medical Genetics May 2025, 62 (5) 311-316; DOI: 10.1136/jmg-2024-110481
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer
Bethany Torr, Grace Kavanaugh, Monica Hamill, Christopher Jones, Helena Harder, Sophie Allen, Alice Garrett, Subin Choi, Rosalind Way, Rochelle Gold, Amy Taylor, Rhian Gabe, Anneke Lucassen, Ranjit Manchanda, Angela George, Michael Hubank, Stephen Bremner, Ashu Gandhi, Zoe Kemp, D Gareth Evans, Lesley Fallowfield, Valerie Jenkins, Clare Turnbull

Journal of Medical Genetics May 2025, 62 (5) 317-325; DOI: 10.1136/jmg-2024-110428
Canadian consensus for the assessment and testing of Lynch syndrome
Melyssa Aronson, Laura Palma, Kara Semotiuk, Jennifer Nuk, Aaron Pollett, Harminder Singh, Heidi Rothenmund, Hilary Racher, Jaime Jessen, Stephen E Pautler, Alison Rusnak, Mari Rutka, Holly Etchegary, Teresa Tiano, Pardeep Kaurah, Lesa Dawson, Andrea Hawrysh, Thomas Ward, Angela Bedard, Brandon S Sheffield, Jordan Lerner-Ellis, Karine Jacob, Sarah Ferguson, Christina A Kim, Erin Chamberlain, Kimberly Dornan, Larissa Waldman, Spring Holter, Janice Horte, Angela Hyde, Janice Kwon, Andree MacMillan, Melanie O’Loughlin, Uri Tabori, Steven Gallinger, Raymond Kim

Journal of Medical Genetics May 2025, 62 (5) 326-334; DOI: 10.1136/jmg-2024-110465
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis
Joowon Jang, Hobin Sung, Jung-Ae Lee, Sung Im Cho, Jee-Soo Lee, Moon-Woo Seong

Journal of Medical Genetics Apr 2025, jmg-2024-110382; DOI: 10.1136/jmg-2024-110382
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study
Qin Xi, Nichola Fennell, Stephanie Archer, Marc Tischkowitz, Antonis C Antoniou, Stephen Morris

Journal of Medical Genetics Apr 2025, jmg-2024-109948; DOI: 10.1136/jmg-2024-109948
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Thanuja Selvanayagam, Ny Hoang, Ege Sarikaya, Jennifer Howe, Carolyn Russell, Alana Iaboni, Morgan Quirbach, Christian R Marshall, Peter Szatmari, Evdokia Anagnostou, Jacob Vorstman, Dean M Hartley, Stephen W Scherer

Journal of Medical Genetics Apr 2025, jmg-2024-110463; DOI: 10.1136/jmg-2024-110463
Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry
Priya S Kishnani, Lothar Seefried, Kathryn M Dahir, Gabriel Á Martos-Moreno, Wolfgang Högler, Cheryl R Greenberg, Shona Fang, Anna Petryk, William R Mowrey, Agnès Linglart, Keiichi Ozono

Journal of Medical Genetics Apr 2025, 62 (4) 249-257; DOI: 10.1136/jmg-2024-110383
Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in England
Ria Patel, Bettina Friedrich, Saskia C Sanderson, Holly Ellard, Celine Lewis

Journal of Medical Genetics Apr 2025, 62 (4) 289-297; DOI: 10.1136/jmg-2024-110458
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development
Pleuntje J van der Sluijs, Koshar Safai Pour, Cécile L Berends, Matthijs D Kruizinga, Annelieke R Müller, Agnies M van Eeghen, Mar Rodríguez-Girondo, Maria J Juachon, Duco Steenbeek, Adam F Cohen, Rob G J A Zuiker, Gijs W E Santen

Journal of Medical Genetics Mar 2025, 62 (3) 210-218; DOI: 10.1136/jmg-2024-109951

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