Ludmila Francescatto

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

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 240 citations · Full text

Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor

Hyun Hor, Ludmila Francescatto, Luca Bartesaghi et al. · Human Molecular Genetics · 2015 · 134 citations · Full text

Missense Mutations, Motor Control Disorders, Neurological Disorder +21

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Michael Zech, Daniel D. Lam, Ludmila Francescatto et al. · The American Journal of Human Genetics · 2015 · 84 citations · Full text

Genetics, Pathology, Degenerative Disease +3

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Elena Bonora, Francesca Bianco, Lina Cordeddu et al. · Gastroenterology · 2015 · 80 citations · Full text

Chronic Intestinal Pseudo-obstruction, Gastroenterology, Pathology +7