Objective Limb‐girdle muscular dystrophies (LGMD s), one of the most heterogeneous
neuromuscular disorders (NMD s), involves predominantly proximal‐muscle weakness …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of
neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers …

KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and
variable clinical findings. With ageing, some features become more recognizable, allowing a …

Although intellectual disability is one of the major indications for genetic counselling, there
are no homogenous diagnostic algorithms for molecular testing. While whole exome …

Objective To develop, test, and iterate a comprehensive neuromuscular targeted gene panel
in a national referral center. Methods We designed two iterations of a comprehensive …

Objective Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due
to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence …

Clinical exome sequencing is currently being used in diagnostics of various genetic
disorders, but studies supporting its application in clinical setting are scarce. The aim of this …

The exponential knowledge on the genetic etiology and the trend towards genetically-
specific therapies for previously untreatable disorders, requires neurologists to be familiar …

Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily
affecting growth, development, and the hormonal and metabolic systems. The aim of present …