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2. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Issue 9 (11th July 2020)

5. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. (18th January 2018)

6. Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion. Issue 6 (8th March 2016)

10. Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series. Issue 10 (19th May 2018)