Sandra Darilek

机构：Baylor College of Medicine

发表论文 39 篇 · 总被引 1428 次 · h-index 16

代表论文

• Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (2022 · Genetics in Medicine · 被引 207)
• Phenotypic expansion in DDX 3X – a common cause of intellectual disability in females (2018 · Annals of Clinical and Translational Neurology · 被引 91)
• Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy (2016 · Journal of Assisted Reproduction and Genetics · 被引 66)
• Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (2023 · Genetics in Medicine · 被引 50)
• The sixth international RASopathies symposium: Precision medicine—From promise to practice (2019 · American Journal of Medical Genetics Part A · 被引 40)
• Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO (2016 · Journal of Medical Genetics · 被引 32)