Mary Koziura

机构：Vanderbilt University Medical Center · ORCID：0000-0001-8527-2571

发表论文 34 篇 · 总被引 908 次 · h-index 16

代表论文

• Limitations of exome sequencing in detecting rare and undiagnosed diseases (2020 · American Journal of Medical Genetics Part A · 被引 109)
• De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation (2020 · The American Journal of Human Genetics · 被引 70)
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder (2020 · Brain · 被引 60)
• De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects (2019 · The American Journal of Human Genetics · 被引 52)
• Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases (2022 · Journal of Clinical Investigation · 被引 40)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 39)