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Jennifer M. Heeley

Mercy Medical Center (Baltimore, Maryland)

3

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

2020 American Journal of Human Genetics
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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

2018 Journal of Medical Genetics
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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

2017 American Journal of Medical Genetics Part A
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