Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 Bianca R. GroszJohn SvarenMarina L. Kennerson Original Article Open access 05 June 2021 Pages: 149 - 160
Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations Tingting ZhaoGeorgi Z. GenchevJincai Feng Original Article 14 June 2021 Pages: 161 - 169
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases Fay AJMcMahon TPtáček LJ Original Article Open access 08 June 2021 Pages: 171 - 185
Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review Haohan ZhangXiaoming QinFengmin Shao Original Article 08 May 2021 Pages: 187 - 194
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems Minh-Tuan HuynhMarion GérardClaire Bénéteau Original Article 16 June 2021 Pages: 195 - 206
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder Nele CosemansJarymke MaljaarsHilde Peeters Short Communication 08 March 2021 Pages: 207 - 213
Does genetic anticipation occur in familial Alexander disease? Camille K. HuntAhmad Al KhleifatJemeen Sreedharan Short Communication Open access 28 May 2021 Pages: 215 - 219
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly K. KlothL. Graul-NeumannF. Kortüm Short Communication 19 May 2021 Pages: 221 - 224