Show
Sort by
-
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
-
- Journal Article
- A1
- open access
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
-
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
-
- Journal Article
- A1
- open access
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
-
- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
-
- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
-
MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
-
- Journal Article
- A1
- open access
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
-
- Journal Article
- A2
- open access
Subcortical myoclonus and associated dystonia in 22q11.2 deletion syndrome
-
ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum