Institute Of Human Genetics 1

1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
3. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
4. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
5. Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes
6. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
7. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
8. A second update on mapping the human genetic architecture of COVID-19
9. A second update on mapping the human genetic architecture of COVID-19
10. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
11. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
12. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
13. Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
14. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
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