Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants Hildegard Kehrer-SawatzkiDavid N. Cooper Review Open access 20 December 2021 Pages: 177 - 191
The potential application of organoids in breast cancer research and treatment Nasim EbrahimiAlireza Nasr EsfahaniMichael R. Hamblin Review 28 October 2021 Pages: 193 - 208
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant Sateesh MaddirevulaSeham AlameerFowzan S Alkuraya Original Investigation 10 November 2021 Pages: 209 - 215
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome Luigia CinqueLucia MicaleMarco Castori Original Investigation 25 November 2021 Pages: 217 - 227
SNP characteristics and validation success in genome wide association studies Olga Y. GorlovaXiangjun XiaoIvan P. Gorlov Original Investigation 04 January 2022 Pages: 229 - 238
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA Catherine E. DominguezDavid CunninghamDawn S. Chandler Original Investigation 28 January 2022 Pages: 239 - 256
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males Hans-Jürgen KreienkampMatias WagnerDavor Lessel Original Investigation Open access 14 December 2021 Pages: 257 - 272
Fine human genetic map based on UK10K data set Ziqian HaoPengyuan DuHaipeng Li Original Investigation 20 January 2022 Pages: 273 - 281
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant Kohei HamanakaKeita MiyoshiNaomichi Matsumoto Original Investigation 15 January 2022 Pages: 283 - 293
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans A. Kemal TopalogluEnver SimsekDeborah J. Good Original Investigation 23 January 2022 Pages: 295 - 304