Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
芬兰创始人群体中智力障碍(ID)疾病的外显子组测序结果显示,这些疾病主要由新生突变引起。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-021-02268-1
Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M; Cornejo-Sanchez, Diana M; Llaci, Lorida; Lupski, James R; Posey, Jennifer E; Leal, Suzanne M; Schrauwen, Isabelle