Samin A. Sajan

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

Christopher R. Ingraham, Akira Kinoshita, Shinji Kondo et al. · Nature Genetics · 2006 · 363 citations

Life Sciences, Genetics, Molecular Biology +17

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh et al. · PLoS Genetics · 2013 · 110 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson et al. · American Journal of Medical Genetics Part A · 2013 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Katia Hardies, Yiying Cai, Claude Jardel et al. · Brain · 2016 · 83 citations · Full text

Life Sciences, Genetics, Neurology +17

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Samin A. Sajan, Shalini N. Jhangiani, Donna M. Muzny et al. · Genetics in Medicine · 2016 · 81 citations · Full text

Life Sciences, Genetics, Molecular Biology +12