Marco Fichera

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 788 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Autism Early +11

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 588 citations

Mendelian Disorder, Genetic Disorder, Psychiatric Genetics +9

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Heather C. Mefford, Andrew J. Sharp, Michel Guipponi et al. · Nature Genetics · 2009 · 553 citations · Full text

Neurobiology Of Disease, Psychiatric Genetics, Neurology +5