Frances A. High, Ph.D.
Affiliations: | 2007 | University of Pennsylvania, Philadelphia, PA, United States |
Google:
"Frances High"Mean distance: 19.78 (cluster 32)
Parents
Sign in to add mentor| Jonathan A. Epstein | grad student | 2007 | Penn | |
| (Notch signaling in cardiac development.) | ||||
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, et al. (2020) De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. American Journal of Human Genetics |
| Castilla-Vallmanya L, Selmer KK, Dimartino C, et al. (2020) Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Dutta D, Briere LC, Kanca O, et al. (2020) De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics |
| Lin AE, Santoro S, High FA, et al. (2019) Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics |
| Qi H, Yu L, Zhou X, et al. (2018) De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. Plos Genetics. 14: e1007822 |
| Zhu Q, High FA, Zhang C, et al. (2018) Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proceedings of the National Academy of Sciences of the United States of America |
| Cheng H, Dharmadhikari AV, Varland S, et al. (2018) Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics |
| Longoni M, High FA, Qi H, et al. (2017) Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Human Genetics |
| Donahoe PK, Longoni M, High FA. (2016) Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies: A Multimodal War on Congenital Diaphragmatic Hernia. The American Journal of Pathology |
| High FA, Bhayani P, Wilson JM, et al. (2016) De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A |