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American Journal of Medical Genetics. Part A|February 19, 2015
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?Andrea Accogli, Mattia Pacetti, Pietro Fiaschi, et al.European Journal of Medical Genetics|December 20, 2021
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathyAndrea Accogli, Charbel El Kosseifi, Christine Saint-Martin, et al.Human Mutation|March 10, 2017
Rare deleterious variants in GRHL3 are associated with human spina bifidaPhilippe Lemay, Patrizia De Marco, Alexandre Emond, et al.European Journal of Medical Genetics|July 21, 2018
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformationsAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.Neurogenetics|March 30, 2019
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasiaAndrea Accogli, Laura Russell, Guillaume Sébire, et al.European Journal of Medical Genetics|November 5, 2022
Hydranencephaly in CENPJ-related Seckel syndromeClaudia Cuccurullo, Giuseppina Miele, Gianluca Piccolo, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.American Journal of Medical Genetics. Part A|September 22, 2018
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndromeAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.Journal of Neurology|February 24, 2019
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical developmentSara Uccella, Andrea Accogli, Domenico Tortora, et al.Pageof 11