Billur Moghaddam
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, RNA modifications and cancer, Autism Spectrum Disorder Research
Most-Cited Works
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders(2009)265 cited
- → Natural history of achondroplasia: A retrospective review of longitudinal clinical data(2020)64 cited
- → Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays(2013)49 cited
- → Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders(2021)31 cited
- → Minor physical anomalies in children with autism spectrum disorders(2011)26 cited
- → Monosomy 21q22.11‐q22.13 presenting as a Fanconi anemia phenotype(2010)19 cited
- → Floating–Harbor syndrome and intramedullary spinal cord ganglioglioma: Case report and observations from the literature(2009)13 cited
- → Targeted Treatments for Phenylketonuria(2014)
- → Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders(2021)