Publications by authors named "Ellen Totten"

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Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Meret Wegler, Christian Roth, Eckehard Schumann, Jillene Kogan, Ellen Totten

Clin Genet· April 2021

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TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Phillip N Gray, Pei Tsai, Daniel Chen, Sitao Wu, Jayne Hoo, Ellen Totten

Oncotarget· April 2018

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A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.
Lara Balay, Ellen Totten, Luna Okada, Sidney Zell, Benjamin Ticho

Am J Med Genet A· January 2016

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