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- Journal Article
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- open access
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders
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- Journal Article
- A1
- open access
RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
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- Journal Article
- A1
- open access
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
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- 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
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- Miscellaneous
- open access
The evolving role of medical geneticists in the era of gene therapy : an urgency to prepare
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- 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
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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile