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
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A Rosenfeld, Wen-Hann Tan, Stephanie A Coury, Audrey C Woerner, Jessica Sebastian, Paul A Levy, Leah R Fleming, Lea Waffenschmidt, Tobias T Lindenberg, Öznur YilmazSee the full list of authors
23 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
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024)Bethany Torr, Nicola Bell, Ruth McCarthy, Monica Hamill, Joshua Nolan, Sudeekshna Muralidharan, Charlotte Andrews, Mikel Valganon-Petrizan, Yasmin Clinch, Suzanne MacMahon, Alison Morilla, Angela George, Paul Ryves, Pooja Dasani, Moses AdegoroyeSee the full list of authors
22 December 2024
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
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, Antonio Gambardella, Grazia Annesi, Valentina De Giorgis, Simone Gana, Maria Teresa Bassi, Claudio Zucca, Maurizio Elia, Luigi Vetri, Barbara Castellotti, Francesca Ragona, Mario Mastrangelo, Francesco PisaniSee the full list of authors
28 November 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