NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, +43

Nature Genetics

Developmental BiologyBiochemistryBrain DevelopmentSialic AcidNans-mediated Synthesis +5

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco, +38

Orphanet Journal of Rare Diseases

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

Maurizio Clementi, Guido Barbujani, Licia Turolla, +1

Human Genetics

Neuro-oncologySomatic VariantMendelian DisorderGenetic DisorderMedicine +6

Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

Francesca Romana Grati, Licia Turolla, Patrizia D’Ajello, +11

Journal of Medical Genetics

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, +21

Human Mutation

Genome-wide Association StudyIntellectual ImpairmentFunctional GenomicsGene PanelPsychiatry +13

Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome

Maurizio Clementi, Romano Tenconi, Licia Turolla, +3

American Journal of Medical Genetics

Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive births

Maurizio Clementi, Licia Turolla, Isabella Mammi, +1

Teratology

Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.

Maria Elisabetta Clementi, Romano Tenconi, Fabrizio Bianchi, +10

PubMed

Developmental AnomalyOcular DiseaseOphthalmologyPediatricsCongenital Disorders +4

Three cases with de novo 6q imbalance and variable prenatal phenotype

Francesca Romana Grati, Faustina Lalatta, Licia Turolla, +11

American Journal of Medical Genetics Part A

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Livia Marcato, Licia Turolla, Eva Pompilii, +17

Clinical Case Reports

Neurological DisorderGeneticsWilliams-beuren SyndromeMolecular GeneticsCopy Losses/gains +15