Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability,
microcephaly, seizures and anomalies of the corpus callosum. Despite several previous …

AKT3 (v‐akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44
and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This …

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several
human diseases, such as neurodegenerative diseases. The RNA splicing process is …

During the past decade, widespread use of microarray-based technologies, including
oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide …

Copy Number Variations (CNVs) comprising the distal 1q region 1q43‐q44 are associated
with neurological impairments, structural brain disorder, and intellectual disability. Here, we …

Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID),
microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum …

The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is
characterized by intellectual disability with no or very limited speech, microcephaly, growth …

DNA alterations in the 1q43‐q44 region are associated with syndromic neurodevelopmental
disorders characterized by global developmental delay, intellectual disability, dysmorphic …

Identification of rare genetic variants in patients with intellectual disability (ID) has been
greatly accelerated by advances in next generation sequencing technologies. However, due …

A key feature of major depressive disorder (MDD) is anhedonia, which is a predictor of
response to antidepressant treatment. In order to shed light on its genetic underpinnings, we …