Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysisBrais Bea-Mascato, Diana Valverde
15 June 2023
Recessive MECR pathogenic variants cause an LHON-like optic neuropathyClaudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali
21 September 2023
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancerSara Fernández-Castillejo, Bàrbara Roig, Mireia Melé, Sara Serrano, Mònica Salvat, Montserrat Querol, Joan Brunet, Marta Pineda, Adela Cisneros, David Parada, Joan Badia, Joan Borràs, Marta Rodríguez-Balada, Josep Gumà
17 August 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter
See the full list of authors16 August 2023
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in IsraelHagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, The BCAC Consortium, Qin Wang, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L Andrulis, Hoda Anton-Culver
See the full list of authors14 July 2023
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplicationMathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy, Antoine Decees, Eléonore Frouin, Elodie Girard, Sandrine M Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa-Lyonnet, Olivier Delattre
See the full list of authors1 June 2023
The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samplesMarc Woodbury-Smith, Lia D’Abate, Dimitri J Stavropoulos, Jennifer Howe, Irene Drmic, Ny Hoang, Mehdi Zarrei, Brett Trost, Alana Iaboni, Evdokia Anagnostou, Stephen W Scherer
8 June 2023
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes ProjectA Rachel Moore, Jing Yu, Yang Pei, Emily W Y Cheng, Ana Lisa Taylor Tavares, Woolf T Walker, N Simon Thomas, Arveen Kamath, Rita Ibitoye, Dragana Josifova, Anna Wilsdon, Alison Ross, Alistair D Calder, Amaka C Offiah, Andrew O M Wilkie
See the full list of authors9 August 2023
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort studyLoek Crefcoeur, Sacha Ferdinandusse, Saskia N van der Crabben, Eugènie Dekkers, Sabine A Fuchs, Hidde Huidekoper, Mirian Janssen, Janneke Langendonk, Rose Maase, Monique de Sain, Estela Rubio, Francjan J van Spronsen, Frédéric Maxime Vaz, Rendelien Verschoof, Maaike de Vries
See the full list of authors24 July 2023
A multilayered approach to the analysis of genetic data from individuals with suspected albinismPanagiotis I. Sergouniotis, Vincent Michaud, Eulalie Lasseaux, Christopher Campbell, Claudio Plaisant, Sophie Javerzat, Ewan Birney, Simon C. Ramsden, Graeme C. Black, Benoit Arveiler
17 July 2023