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 WilkieSee the full list of authors
9 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 VriesSee the full list of authors
24 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
Time to treat the climate and nature crisis as one indivisible global health emergencyChris Zielinski
25 October 2023
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer riskLaura Valle, Lior H Katz, Andrew Latchford, Pilar Mur, Victor Moreno, Ian M Frayling, Brandie Heald, Gabriel Capellá,
19 April 2023
ARF1-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L ThompsonSee the full list of authors
25 April 2023
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variantMaria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-CandelaSee the full list of authors
16 May 2023
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertensionYline Capri, Theresa Kwon, Olivia Boyer, Lucas Bourmance, Noe Testa, Véronique Baudouin, Ronan Bonnefoy, Anne Couderc, Chakib Meziane, Elisabeth Tournier-Lasserve, Laurence Heidet, Judith Melki
20 April 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1CAmytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales MoronSee the full list of authors
16 May 2023