Vas, Matías G. de; Boulet, Fanny; Joshi, Shweta S.; Garstang, Myles G.; Khan, Tahir N.; Atla, Goutham; Parry, David; Moore, David; Cebola, Inês; Zhang, Shuchen; Cui, Wei, 1970-; Lampe, Anne K.; Lam, Wayne W.; Genomics England Research Consortium; Ferrer, Jorge; Pradeepa, Madapura M.; Atanur, Santosh S.
(Life Science Alliance, 2023)
The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory ...