Heba Morsy
Al-Azhar University(EG)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Genomic variations and chromosomal abnormalities, Algal biology and biofuel production, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome(2011)139 cited
- → The morbid genome of ciliopathies: an update(2020)103 cited
- → Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome(2011)92 cited
- → Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort(2019)92 cited
- → Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome(2020)83 cited
- → Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications(2024)42 cited
- → Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families(2023)37 cited
- → Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy(2020)31 cited
- → Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia(2019)31 cited