Marwan Shinawi

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 684 citations

Life Sciences, Genetics, Molecular Genetics +11

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German et al. · Nature Genetics · 2008 · 664 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia et al. · Nature Genetics · 2008 · 635 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 601 citations

Life Sciences, Genetics, Molecular Genetics +17

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

Joseph Muenzer, J. E. Wraith, Michael Beck et al. · Genetics in Medicine · 2006 · 585 citations · Full text

Life Sciences, Biochemistry, Enzymology +10