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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder

Laura Cross, Kirsty McWalter, Jennifer Keller‐Ramey, Lindsay B. Henderson, Shivarajan Amudhavalli

Clinical Dysmorphology · 2020 · 32 citations · 4 references

DOI

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Abstract

Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M. Author Information

References

4

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

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Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 233 citations · Full text

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 109 citations · Full text

, , +16