Nine Knoers

Drug Repurposing for Rare Diseases

Modifier genes in <i>SCN1A</i>‐related epilepsy syndromes

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related seizure phenotypes

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

Outcomes and comorbidities of SCN1A-related seizure disorders

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

AGORA, a data‐ and biobank for birth defects and childhood cancer

De novo 14q24.2q24.3 microdeletion including <i>IFT43</i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Joubert syndrome: genotyping a Northern European patient cohort

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in <i>COL5A1</i>

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Postmortem disclosure of genetic information to family members: active or passive?

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

X-exome sequencing identifies a <i>HDAC8</i> variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder