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Frances A High, M.D.

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  1. P01HD068250 (DONAHOE, PATRICIA K) Aug 29, 2011 - Jun 30, 2016
    NIH/NICHD
    Gene Mutation and Rescue in Human Diaphragmatic Hernia
    Role: Co-Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. 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, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 Jun 03; 29(9):1568-1579. PMID: 32356556.
    Citations:    
  2. 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, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 Jul; 22(7):1215-1226. PMID: 32376980.
    Citations:    
  3. Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63. PMID: 31868316.
    Citations:    
  4. Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. PMID: 30682224.
    Citations:    Fields:    
  5. 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, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018 12; 14(12):e1007822. PMID: 30532227.
    Citations:    Fields:    
  6. Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet. 2018 10 04; 103(4):621-630. PMID: 30290154.
    Citations:    Fields:    
  7. 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, Lee C. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci U S A. 2018 05 15; 115(20):5247-5252. PMID: 29712845.
    Citations:    Fields:    Translation:Humans
  8. 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, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994. PMID: 29656860.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  9. Chan YM, Balza R, High FA. Case 3-2018: A 5-Month-Old Boy with Hypoglycemia. N Engl J Med. 2018 Jan 25; 378(4):381-389. PMID: 29365308.
    Citations:    Fields:    Translation:Humans
  10. 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. Hum Genet. 2017 06; 136(6):679-691. PMID: 28303347.
    Citations: 3     Fields:    Translation:HumansCells
  11. Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol. 2016 10; 186(10):2532-43. PMID: 27565037.
    Citations: 4     Fields:    Translation:HumansAnimals
  12. 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. Am J Med Genet A. 2016 09; 170(9):2457-61. PMID: 27363585.
    Citations: 5     Fields:    Translation:Humans
  13. Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A. 2015 Jun; 167(6):1400-5. PMID: 25846266.
    Citations:    Fields:    Translation:HumansCells
  14. 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, Donahoe PK. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A. 2014 Aug 26; 111(34):12450-5. PMID: 25107291.
    Citations: 9     Fields:    Translation:HumansAnimals
  15. 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, Pober BR, Donahoe PK. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet. 2015 Apr; 87(4):362-7. PMID: 24702427.
    Citations: 12     Fields:    Translation:HumansCells
  16. 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. 2012 Jan 17; 125(2):314-23. PMID: 22147907.
    Citations: 37     Fields:    Translation:AnimalsCells
  17. 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. J Clin Invest. 2009 Jul; 119(7):1986-96. PMID: 19509466.
    Citations: 54     Fields:    Translation:AnimalsCells
  18. 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. Proc Natl Acad Sci U S A. 2008 Feb 12; 105(6):1955-9. PMID: 18245384.
    Citations: 117     Fields:    Translation:AnimalsCells
  19. High FA, Epstein JA. The multifaceted role of Notch in cardiac development and disease. Nat Rev Genet. 2008 Jan; 9(1):49-61. PMID: 18071321.
    Citations: 119     Fields:    Translation:HumansAnimalsCells
  20. 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. J Clin Invest. 2007 Feb; 117(2):353-63. PMID: 17273555.
    Citations: 88     Fields:    Translation:HumansAnimalsCells
  21. High F, Epstein JA. Signalling pathways regulating cardiac neural crest migration and differentiation. Novartis Found Symp. 2007; 283:152-61; discussion 161-4, 238-41. PMID: 18300420.
    Citations: 7     Fields:    Translation:AnimalsCells
  22. Luo Y, High FA, Epstein JA, Radice GL. N-cadherin is required for neural crest remodeling of the cardiac outflow tract. Dev Biol. 2006 Nov 15; 299(2):517-28. PMID: 17014840.
    Citations: 33     Fields:    Translation:AnimalsCells
  23. 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. Dev Biol. 2005 Apr 15; 280(2):396-406. PMID: 15882581.
    Citations: 101     Fields:    Translation:AnimalsCells
  24. 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. Eur J Immunol. 2004 Dec; 34(12):3604-13. PMID: 15484194.
    Citations: 45     Fields:    Translation:AnimalsCells
  25. Tato CM, Martins GA, High FA, DiCioccio CB, Reiner SL, Hunter CA. Cutting Edge: Innate production of IFN-gamma by NK cells is independent of epigenetic modification of the IFN-gamma promoter. J Immunol. 2004 Aug 01; 173(3):1514-7. PMID: 15265878.
    Citations: 25     Fields:    Translation:AnimalsCells
  26. 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. Mol Cell. 2002 Jul; 10(1):81-91. PMID: 12150909.
    Citations: 74     Fields:    Translation:AnimalsCells
  27. 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. Nat Immunol. 2002 Jul; 3(7):652-8. PMID: 12055627.
    Citations: 97     Fields:    Translation:HumansAnimalsCells
  28. 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. Curr Biol. 2001 Oct 30; 11(21):1695-9. PMID: 11696328.
    Citations: 14     Fields:    Translation:Cells
  29. 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. J Exp Med. 2001 Oct 01; 194(7):893-902. PMID: 11581312.
    Citations: 19     Fields:    Translation:AnimalsCells
  30. 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. 2001 Jun 08; 292(5523):1907-10. PMID: 11397944.
    Citations: 214     Fields:    Translation:AnimalsCells
  31. Nichols RC, Wang XW, Tang J, Hamilton BJ, High FA, Herschman HR, Rigby WF. The RGG domain in hnRNP A2 affects subcellular localization. Exp Cell Res. 2000 May 01; 256(2):522-32. PMID: 10772824.
    Citations: 50     Fields:    Translation:HumansAnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.