1. 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-Sawatzki
   • David N. Cooper

   Review Open access 20 December 2021 Pages: 177 - 191

2. The potential application of organoids in breast cancer research and treatment

   • Nasim Ebrahimi
   • Alireza Nasr Esfahani
   • Michael R. Hamblin

   Review 28 October 2021 Pages: 193 - 208

   

3. Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant

   • Sateesh Maddirevula
   • Seham Alameer
   • Fowzan S Alkuraya

   Original Investigation 10 November 2021 Pages: 209 - 215

   

4. A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

   • Luigia Cinque
   • Lucia Micale
   • Marco Castori

   Original Investigation 25 November 2021 Pages: 217 - 227

   

5. SNP characteristics and validation success in genome wide association studies

   • Olga Y. Gorlova
   • Xiangjun Xiao
   • Ivan P. Gorlov

   Original Investigation 04 January 2022 Pages: 229 - 238

   

6. Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA

   • Catherine E. Dominguez
   • David Cunningham
   • Dawn S. Chandler

   Original Investigation 28 January 2022 Pages: 239 - 256

   

7. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

   • Hans-Jürgen Kreienkamp
   • Matias Wagner
   • Davor Lessel

   Original Investigation Open access 14 December 2021 Pages: 257 - 272

   

8. Fine human genetic map based on UK10K data set

   • Ziqian Hao
   • Pengyuan Du
   • Haipeng Li

   Original Investigation 20 January 2022 Pages: 273 - 281

   

9. Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

   • Kohei Hamanaka
   • Keita Miyoshi
   • Naomichi Matsumoto

   Original Investigation 15 January 2022 Pages: 283 - 293

   

10. Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans

    • A. Kemal Topaloglu
    • Enver Simsek
    • Deborah J. Good

    Original Investigation 23 January 2022 Pages: 295 - 304