• A novel aberration of COL1A1-PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location
• Azoospermia and paternal autosomal ring chromosomes: case report and literature review
• Bilateral Vestibular Schwannomas in a Patient with Ring Chromosome 22: Case Report and Review of the Literature
• Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone
• Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
• Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion
• Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion
• Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
• Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22
• Genetic diagnosis and analysis for two cases of ring chromosome 22
• Genomic and transcriptomic features of dermatofibrosarcoma protuberans: Unusual chromosomal origin of the COL1A1-PDGFB fusion gene and synergistic effects of amplified regions in tumor development
• Incidence of chromosomal anomalies in fetuses with isolated right aortic arch: A meta-analysis
• MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism
• Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients
• Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report
• Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature
• Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
• Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22
• Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
• Ring 22 chromosome syndrome induced azoospermia: a case report and literature review
• Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives
• Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
• Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review