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Nature|November 25, 2021
Fam72a enforces error-prone DNA repair during antibody diversificationMélanie Rogier, Jacques Moritz, Isabelle Robert, et al.Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.Clinical Genetics|August 22, 2025
Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of CiliopathiesLucile Boutaud, Chunmei Li, Candice Moncler, et al.Frontiers in Neuroscience|June 10, 2022
The Impact of Probiotic Supplementation on Cognitive, Pathological and Metabolic Markers in a Transgenic Mouse Model of Alzheimer's DiseaseThomas S Webberley, Giulia Masetti, Ryan J Bevan, et al.American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.The Lancet. Diabetes & Endocrinology|August 7, 2023
National UK guidelines for the management of paediatric craniopharyngiomaHoong-Wei Gan, Paul Morillon, Assunta Albanese, et al.Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseLoïc de Pontual, Norann A Zaghloul, Sophie Thomas, et al.Frontiers in Molecular Neuroscience|January 10, 2022
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.Frontiers in Molecular Neuroscience|May 16, 2022
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and HumanJean Marie Delalande, Nandor Nagy, Conor J McCann, et al.Journal of Medical Genetics|November 5, 2011
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex developmentSabina Benko, Christopher T Gordon, Delphine Mallet, et al.Pageof 9