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Stefanie Belet | doi.page

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Stefanie Belet

VIB-KU Leuven Center for Cancer Biology(BE)Centre For Human Genetics(IN)Center for Human Genetics(US)KU Leuven(BE)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genomics and Rare Diseases, Cellular transport and secretion

Most-Cited Works

→ X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
→ Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements(2012)87 cited
→ Large-scale analysis of tandem repeat variability in the human genome(2014)86 cited
→ Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains(2013)64 cited
→ De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation(2014)60 cited
→ Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality(2013)40 cited

→ A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations(2013)

38 cited

→ Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features(2015)32 cited

→ The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability(2013)29 cited

→ Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability(2015)20 cited