Diana Baralle

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Altered regulation of <i>BRCA1</i> exon 11 splicing is associated with breast cancer risk in carriers of <i>BRCA1</i> pathogenic variants

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Naturally occurring <i>BRCA2</i> alternative mRNA splicing events in clinically relevant samples

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

Whole exome sequencing in family trios reveals <i>de novo</i> mutations in <i>PURA</i> as a cause of severe neurodevelopmental delay and learning disability