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Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040
Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
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Human Mutation | February 29, 2020 | Volume: 41 | Issue: 7 | Pages: 1238-1249
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
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Human Mutation | August 10, 2018 | Volume: 39 | Issue: 11 | Pages: 1650-1659