Ring 14 syndrome: toward a detailed genotype-phenotype correlation

Pubblicazioni Scientifiche

• CLINICAL GENETICS

  Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

• HUMAN GENETICS

  De novo unbalanced translocations have a complex history/aetiology

• JOURNAL OF MEDICAL GENETICS

  Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

• MOLECULAR CYTOGENETICS

  Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

• PLOS ONE

  A Data Fusion Approach to Enhance Association Study in Epilepsy