Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der ZeeSee the full list of authors
21 May 2024
Genetics of prostate cancer: a review of latest evidence Rose Hall, Elizabeth Bancroft, Nora Pashayan, Zsofia Kote-Jarai, Rosalind A Eeles
24 September 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit MehtaSee the full list of authors
21 May 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Sian 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 RankinSee the full list of authors
25 November 2024
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes Vahid Akbari, Sarah Dada, Yaoqing Shen, Katherine Dixon, Duha Hejla, Andrew Galbraith, Sanaa Choufani, Rosanna Weksberg, Cornelius F Boerkoel, Laura Stewart, William T Gibson, Steven J M Jones
31 December 2024
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice Melody Grace Redman, Rachel Helen Horton, Helena Carley, Anneke Lucassen
21 March 2024
Iron and risk of dementia: Mendelian randomisation analysis in UK Biobank Francesco Casanova, Qu Tian, Janice L Atkins, Andrew R Wood, Daniel Williamson, Yong Qian, David Zweibaum, Jun Ding, David Melzer, Luigi Ferrucci, Luke C Pilling
19 April 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank Eilidh Fummey, Pau Navarro, John-Paul Plazzer, Ian M Frayling, Sara Knott, Albert Tenesa
29 August 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations? Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova, Martine Jacot-Guillarmod, Kanetee Busiah, Fabienne Giuliano, Michel Gilliet, Isis Atallah
19 April 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification Charlie F Rowlands, Alice Garrett, Sophie Allen, Miranda Durkie, George J Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Terri P McVeigh, Helen HansonSee the full list of authors
24 September 2024
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics Paul 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
27 January 2025
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study Lucy 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 NorburySee the full list of authors
25 November 2024
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Emma L Baple, Helen Hanson
19 July 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals Lottie D. Morison, Milou G.P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth Palmer, Adam P. Vogel, Frederique Liegeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. SchefferSee the full list of authors
21 May 2024
Cerebral visual impairment: genetic diagnoses and phenotypic associations Emogene Shaw, Ian Flitcroft, Richard Bowman, Kate Baker
21 May 2024
Genotype and phenotype correlation of PHACTR1-related neurological disorders Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Yang
21 May 2024
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis Yinghong Pan, Babi Ramesh Reddy Nallamilli, Ruby Liu, Naga Guruju, Daniel Lesperance, Zeqiang Ma, Abhinav Mathur, Kayla Banks, Ann S Martin, Rolando García, Fen Guo, Madhuri Hegde
27 January 2025
Next generation of free? Points to consider when navigating sponsored genetic testing Kirsten Bartels, Samantha Afonso, Lindsay Brown, Claudia Carriles, Raymond Kim, Joanna Lazier, Saadet Mercimek-Andrews, Tanya N Nelson, Ian Stedman, Emily Thain, Rachel Vanneste, Lauren Chad
21 March 2024
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases Kensuke Goto, Yoshito Koyanagi, Masato Akiyama, Yusuke Murakami, Masatoshi Fukushima, Kohta Fujiwara, Hanae Iijima, Mitsuyo Yamaguchi, Mikiko Endo, Kazuki Hashimoto, Masataka Ishizu, Toshiaki Hirakata, Kei Mizobuchi, Masakazu Takayama, Junya OtaSee the full list of authors
20 June 2024
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak, Floor Wildschut, Dagmar Berghuis, Angela Morgan, Maria Pilar Trelles, Jeroen Ronald Scheepe, Regina Bökenkamp, Cacha M P C D Peeters-Scholte, Ruth Braden, Gijs W E Santen
21 March 2024
