Clinical utility of genome sequencing in autism: illustrative examples from a genomic research studyThanuja 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
1 April 2025
Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in EnglandRia Patel, Bettina Friedrich, Saskia C Sanderson, Holly Ellard, Celine Lewis
12 February 2025
Limitations of genomics to predict and treat autism: a disorder born in the wombYehezkel Ben-Ari, Étienne É Danchin
13 March 2025
Canadian consensus for the assessment and testing of Lynch syndromeMelyssa 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 KaurahSee the full list of authors
12 March 2025
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 cancerBethany 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 GeorgeSee the full list of authors
12 March 2025
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease developmentPleuntje 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
31 December 2024
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics serviceAlexander Roe, Andrea Forman, Fiona Lalloo, Terri P McVeigh, Helen Hanson, Katie Snape
19 February 2025
Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP RegistryPriya 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
18 February 2025
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literatureOmeyma Trimeche, Rania Sakka, Ekram Hajji, Abdelmouhaymen Missaoui, Bilel Ben Amor, Ines Bayar, Sana Abid, Hela Marmouch, Hanen Sayedi, Ines Khochtali
6 December 2024
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnosticsPaul Dremsek, Anna Schachner, Theresa Reischer, Elisabeth Krampl-Bettelheim, Dieter Bettelheim, Sybille Vrabel, Zoja Delissen, Mateja Pfeifer, Beatrix Weil, Robert Bajtela, Markus Hengstschläger, Franco Laccone, Jürgen Neesen
9 December 2024