• <em>De novo</em> 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report
• A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
• Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement
• Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia
• Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome
• Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
• Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
• Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
• Mutations in ZBTB20 cause Primrose syndrome
• Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
• Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems
• Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
• Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
• The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome
• The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1