Amytice Mirchi

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 45 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Seth A. Stafki, Johnnie Turner, Hannah R. Littel et al. · Pediatric Neurology · 2023 · 17 citations · Full text

Life Sciences, Genetics, Psychiatry +3

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Amytice Mirchi, Félixe Pelletier, Luan T. Tran et al. · Pediatric Neurology · 2018 · 16 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

Emily Dermer, Aaron Spahr, Luan T. Tran et al. · Journal of Child Neurology · 2020 · 13 citations

Medicine, Genetics, Pediatrics +17

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>

Amytice Mirchi, Simon‐Pierre Guay, Luan T. Tran et al. · Journal of Medical Genetics · 2023 · 10 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +15