Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variantVirginia Clowes, Jenny C Taylor, Alistair T Pagnamenta
11 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
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
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in femalesChihiro Abe-Hatano, Ken Inoue, Eri Takeshita, Yosuke Kawai, Katsushi Tokunaga, Yu-ichi Goto
28 October 2024
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testingElaine Suk-Ying Goh, Lauren Chad, Julie Richer, Yvonne Bombard, Chloe Mighton, Ron Agatep, Melanie Lacaria, Blaine Penny, Mary Ann Thomas, Ma'n H Zawati, Julie MacFarlane, Anne-Marie Laberge, Tanya N Nelson
3 October 2024
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based studyLucy Loong, Catherine Huntley, Joanna Pethick, Fiona McRonald, Francesco Santaniello, Brian Shand, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Sophie Allen, Bethany Torr, Katie Snape, Angela George, Fiona Lalloo, Gail Norbury
See the full list of authors21 October 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, Susan Walker, Andrew Parrish, Rachael Mein, Ana Juett, Joo Wook Ahn, Ian Berry, Emma-Jane Cassidy, Miranda Durkie, Louise Fish, Richard Hall, Emma Howard, Julia Rankin
See the full list of authors26 September 2024
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence dataToqir K Mukhtar, Naomi Wilcox, Joe Dennis, Xin Yang, Marc Naven, Nasim Mavaddat, John R B Perry, Eugene Gardner, Douglas F Easton
29 August 2024
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau diseaseCathy D Vocke, Christopher J Ricketts, Svetlana Pack, Mark Raffeld, Stephen Hewitt, Alexandra P Lebensohn, Lidenys O’Brien, Rabindra Gautam, Krista Reynolds, Laura S Schmidt, Kristin Choo, Alex Kenigsberg, Sandeep Gurram, Emily Y Chew, Naris Nilubol
See the full list of authors24 September 2024
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adultsBrian C Kavanaugh, Jennifer Elacio, Carrie R Best, Danielle G St Pierre, Matthew F Pescosolido, Qing Ouyang, John Biedermann, Rebecca S Bradley, Judy S Liu, Richard N Jones, Eric M Morrow
5 September 2024