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Frances A. High, Ph.D. - Publications

Affiliations: 
2007 University of Pennsylvania, Philadelphia, PA, United States 
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28 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Pendleton KE, Hernandez-Garcia A, Lyu JM, Campbell IM, Shaw CA, Vogt J, High FA, Donahoe PK, Chung WK, Scott DA. Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of Pediatric Genetics. 13: 29-34. PMID 38567173 DOI: 10.1055/s-0043-1767731  0.335
2020 Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, ... ... High FA, et al. 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. PMID 32693025 DOI: 10.1016/J.Ajhg.2020.06.013  0.331
2020 Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... ... High FA, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/S41436-020-0792-7  0.327
2020 Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081  0.306
2019 Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31868316 DOI: 10.1002/Ajmg.C.31760  0.327
2018 Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, ... ... High FA, et al. 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. PMID 30532227 DOI: 10.1371/Journal.Pgen.1007822  0.41
2018 Zhu Q, High FA, Zhang C, Cerveira E, Russell MK, Longoni M, Joy MP, Ryan M, Mil-Homens A, Bellfy L, Coletti CM, Bhayani P, Hila R, Wilson JM, Donahoe PK, et al. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proceedings of the National Academy of Sciences of the United States of America. PMID 29712845 DOI: 10.1073/Pnas.1714885115  0.364
2018 Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, ... ... High FA, et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. American Journal of Human Genetics. PMID 29656860 DOI: 10.1016/J.Ajhg.2018.03.004  0.354
2017 Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Human Genetics. PMID 28303347 DOI: 10.1007/S00439-017-1774-Y  0.362
2016 Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies: A Multimodal War on Congenital Diaphragmatic Hernia. The American Journal of Pathology. PMID 27565037 DOI: 10.1016/J.Ajpath.2016.07.006  0.358
2016 High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. PMID 27363585 DOI: 10.1002/Ajmg.A.37830  0.363
2015 Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, et al. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clinical Genetics. 87: 362-7. PMID 24702427 DOI: 10.1111/Cge.12395  0.318
2014 Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, et al. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proceedings of the National Academy of Sciences of the United States of America. 111: 12450-5. PMID 25107291 DOI: 10.1073/Pnas.1412509111  0.362
2012 Manderfield LJ, High FA, Engleka KA, Liu F, Li L, Rentschler S, Epstein JA. Notch activation of Jagged1 contributes to the assembly of the arterial wall. Circulation. 125: 314-23. PMID 22147907 DOI: 10.1161/Circulationaha.111.047159  0.531
2009 High FA, Jain R, Stoller JZ, Antonucci NB, Lu MM, Loomes KM, Kaestner KH, Pear WS, Epstein JA. Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development. The Journal of Clinical Investigation. 119: 1986-96. PMID 19509466 DOI: 10.1172/Jci38922  0.564
2008 High FA, Lu MM, Pear WS, Loomes KM, Kaestner KH, Epstein JA. Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development. Proceedings of the National Academy of Sciences of the United States of America. 105: 1955-9. PMID 18245384 DOI: 10.1073/Pnas.0709663105  0.542
2008 High FA, Epstein JA. The multifaceted role of Notch in cardiac development and disease. Nature Reviews. Genetics. 9: 49-61. PMID 18071321 DOI: 10.1038/Nrg2279  0.565
2007 High F, Epstein JA. Signalling pathways regulating cardiac neural crest migration and differentiation. Novartis Foundation Symposium. 283: 152-61; discussion 1. PMID 18300420 DOI: 10.1002/9780470319413.Ch12  0.564
2007 High FA, Zhang M, Proweller A, Tu L, Parmacek MS, Pear WS, Epstein JA. An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation. The Journal of Clinical Investigation. 117: 353-63. PMID 17273555 DOI: 10.1172/Jci30070  0.619
2006 Luo Y, High FA, Epstein JA, Radice GL. N-cadherin is required for neural crest remodeling of the cardiac outflow tract. Developmental Biology. 299: 517-28. PMID 17014840 DOI: 10.1016/J.Ydbio.2006.09.003  0.545
2006 Maillard I, High F, Shestova O, Dedhia P, Epstein JA, Pear WS. Notch Signaling Regulates Hematopoietic Stem Cell Homeostasis in the Fetal Liver through a Non-Cell-Autonomous Mechanism. Blood. 108: 440-440. DOI: 10.1182/Blood.V108.11.440.440  0.538
2005 Engleka KA, Gitler AD, Zhang M, Zhou DD, High FA, Epstein JA. Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives. Developmental Biology. 280: 396-406. PMID 15882581 DOI: 10.1016/J.Ydbio.2005.02.002  0.625
2004 Hewitt SL, High FA, Reiner SL, Fisher AG, Merkenschlager M. Nuclear repositioning marks the selective exclusion of lineage-inappropriate transcription factor loci during T helper cell differentiation. European Journal of Immunology. 34: 3604-13. PMID 15484194 DOI: 10.1002/Eji.200425469  0.322
2002 Hutchins AS, Mullen AC, Lee HW, Sykes KJ, High FA, Hendrich BD, Bird AP, Reiner SL. Gene silencing quantitatively controls the function of a developmental trans-activator. Molecular Cell. 10: 81-91. PMID 12150909 DOI: 10.1016/S1097-2765(02)00564-6  0.349
2002 Mullen AC, Hutchins AS, High FA, Lee HW, Sykes KJ, Chodosh LA, Reiner SL. Hlx is induced by and genetically interacts with T-bet to promote heritable T(H)1 gene induction. Nature Immunology. 3: 652-8. PMID 12055627 DOI: 10.1038/Ni807  0.304
2001 Mullen AC, Hutchins AS, Villarino AV, Lee HW, High FA, Cereb N, Yang SY, Hua X, Reiner SL. Cell cycle controlling the silencing and functioning of mammalian activators. Current Biology : Cb. 11: 1695-9. PMID 11696328 DOI: 10.1016/S0960-9822(01)00533-4  0.322
2001 Doyle AM, Mullen AC, Villarino AV, Hutchins AS, High FA, Lee HW, Thompson CB, Reiner SL. Induction of cytotoxic T lymphocyte antigen 4 (CTLA-4) restricts clonal expansion of helper T cells. The Journal of Experimental Medicine. 194: 893-902. PMID 11581312 DOI: 10.1084/Jem.194.7.893  0.329
2001 Mullen AC, High FA, Hutchins AS, Lee HW, Villarino AV, Livingston DM, Kung AL, Cereb N, Yao TP, Yang SY, Reiner SL. Role of T-bet in commitment of TH1 cells before IL-12-dependent selection. Science (New York, N.Y.). 292: 1907-10. PMID 11397944 DOI: 10.1126/Science.1059835  0.312
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