Publications by authors named "Emma Strong"

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Using long-read sequencing to detect and subtype a case with Temple syndrome.
Sarah Dada, Vahid Akbari, Duha Hejla, Yaoqing Shen, Katherine Dixon, Emma Strong

J Med Genet· July 2025

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DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.
Emma Strong, Carolyn B Mervis, Elaine Tam, Colleen A Morris, Bonita P Klein-Tasman

NPJ Genom Med· September 2023

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Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.
Kamilla Schlade-Bartusiak, Emma Strong, Olive Zhu, Jessica Mackie, Diane Salema

F S Rep· September 2022

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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Erin R Riggs, Tristan Nelson, Andrew Merz, Todd Ackley, Brian Bunke, Emma Strong

Hum Mutat· November 2018

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Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.
Shahryar Khattak, Elise Brimble, Wenbo Zhang, Kirill Zaslavsky, Emma Strong

Mol Brain· November 2015

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Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.
Emma Strong, Darci T Butcher, Rajat Singhania, Carolyn B Mervis, Colleen A Morris

Am J Hum Genet· August 2015

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Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara

Orphanet J Rare Dis· August 2011

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