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1. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020)

3. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature. Issue 8 (20th May 2014)

4. Clinical utility of the X‐chromosome array1. Issue 1 (3rd December 2012)

5. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. Issue 7 (19th April 2016)

7. Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Issue 6 (2nd April 2019)

8. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018)