Marwan Shinawi
St. Louis Children's Hospital(US)Washington University in St. Louis(US)Pediatrics and Genetics(US)Center for Genomic Science(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Metabolism and Genetic Disorders
Most-Cited Works
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster(2008)660 cited
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size(2009)595 cited
- → A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)(2006)582 cited
- → TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis(2015)313 cited