Jillian M. Felie
Boston Children's Hospital(US)Howard Hughes Medical Institute(US)Institut thématique Génétique, génomique et bioinformatique(FR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Microtubule and mitosis dynamics, Genomic variations and chromosomal abnormalities, Neuroscience and Neuropharmacology Research, Autism Spectrum Disorder Research
Most-Cited Works
- → Using Whole-Exome Sequencing to Identify Inherited Causes of Autism(2013)457 cited
- → Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture(2010)284 cited
- → Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly(2011)222 cited
- → A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts(2010)104 cited
- → CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development(2012)104 cited
- → METTL23, a transcriptional partner of GABPA, is essential for human cognition(2014)50 cited
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