Maria Descartes

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A. Tischfield, Hagit Baris, Chen Wu et al. · Cell · 2010 · 602 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Hyung‐Goo Kim, Shotaro Kishikawa, Anne W. Higgins et al. · The American Journal of Human Genetics · 2008 · 581 citations · Full text

Medicine, Neurobiology, Neuroscience +9

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 327 citations

Life Sciences, Genetics, Molecular Genetics +15

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin et al. · American Journal of Medical Genetics Part A · 2011 · 172 citations

Medicine, Genetics, Molecular Genetics +17

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Joanna Wiszniewska, Weimin Bi, Chad A. Shaw et al. · European Journal of Human Genetics · 2013 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17