Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira, +22

Prenatal Diagnosis

Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, +28

Brain

High DensityProtein GlycosylationDevelopmental BiologyMendelian DisorderBiochemistry +13

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Laura Bernardini, Viola Alesi, Sara Loddo, +9

European Journal of Human Genetics

Intellectual ImpairmentNeuroimaging BiomarkersPsychiatryPsychiatric GeneticsSchizophrenia +5

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, +13

Neurogenetics

Rare Hsp-related GenesRare DiseasesGenetic DisorderNext-generation SequencingGenetics +6

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, +4

Experimental Dermatology

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, +16

American Journal of Medical Genetics Part A

Another patient with 12q13 microduplication

Marta Bértoli, Viola Alesi, F Gullotta, +6

American Journal of Medical Genetics Part A

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Kate Wolfe, Andrew McQuillin, Viola Alesi, +24

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

GeneticsDisease Gene IdentificationGenomicsPsychologySocial Sciences +18

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

Kyle Davis, Moises Serrano, Sara Loddo, +5

International Journal of Molecular Sciences

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders

Eleonora Napoli, Serena Russo, Laura Casula, +7

Journal of Autism and Developmental Disorders

Neurodevelopmental DisordersPsychiatryArray-cgh AnalysisSyndromic AutismPhenotypically Well-characterized Individuals +5