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Frances A High, M.D.

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The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. P01HD068250 (DONAHOE, PATRICIA K) Jul 1, 2011 - Apr 30, 2022
    NIH
    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. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. PMID: 36332614; PMCID: PMC9674957.
    Citations:    Fields:    
  2. Reimers R, High F, Kremen J, Wilkins-Haug L. Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents? Prenat Diagn. 2022 Oct 31. PMID: 36316966.
    Citations:    Fields:    
  3. Sen S, Westra SJ, Matute JD, Sherwood JS, High FA, Kwan MC. Case 30-2022: A Newborn Girl with Hypoglycemia. N Engl J Med. 2022 09 29; 387(13):1218-1226. PMID: 36170504.
    Citations:    Fields:    Translation:Humans
  4. Colizzo FP, Shroff SG, High FA, Chen YB, Barmettler S. Case 29-2022: A 33-Year-Old Man with Chronic Diarrhea and Autoimmune Enteropathy. N Engl J Med. 2022 09 22; 387(12):1124-1134. PMID: 36130001.
    Citations:    Fields:    Translation:Humans
  5. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Oct 06; 109(10):1923-1931. PMID: 36067766; PMCID: PMC9606386.
    Citations:    Fields:    Translation:HumansAnimals
  6. Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012. PMID: 35621276; PMCID: PMC9474623.
    Citations:    Fields:    
  7. Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes (Basel). 2022 01 15; 13(1). PMID: 35052493; PMCID: PMC8775410.
    Citations: 1     Fields:    Translation:Humans
  8. Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosinski P, McCulley DJ, Elfiky M, Azarow K, Fialkowski E, Schindel D, Soffer SZ, Lyon JB, Zalieckas JM, Vardarajan BN, Aspelund G, Duron VP, High FA, Sun X, Donahoe PK, Shen Y, Chung WK. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021 10 07; 108(10):1964-1980. PMID: 34547244; PMCID: PMC8546037.
    Citations: 4     Fields:    Translation:HumansAnimals
  9. Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 06; 7(3). PMID: 33811063.
    Citations:    Fields:    Translation:HumansCells
  10. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833. PMID: 33443317.
    Citations: 3     Fields:    Translation:HumansCells
  11. 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, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025.
    Citations: 21     Fields:    Translation:Humans
  12. 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 06 03; 29(9):1568-1579. PMID: 32356556; PMCID: PMC7268787.
    Citations: 11     Fields:    Translation:HumansCells
  13. 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 07; 22(7):1215-1226. PMID: 32376980; PMCID: PMC8093014.
    Citations: 7     Fields:    Translation:HumansCells
  14. 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: 3     Fields:    Translation:Humans
  15. 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: 17     Fields:    Translation:Humans
  16. 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; PMCID: PMC6301721.
    Citations: 33     Fields:    Translation:Humans
  17. 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; PMCID: PMC6174320.
    Citations: 32     Fields:    Translation:HumansCells
  18. 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; PMCID: PMC5960281.
    Citations: 8     Fields:    Translation:Humans
  19. 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: 22     Fields:    Translation:HumansAnimalsCells
  20. 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
  21. 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; PMCID: PMC5453716.
    Citations: 23     Fields:    Translation:HumansCells
  22. 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; PMCID: PMC5222980.
    Citations: 14     Fields:    Translation:HumansAnimals
  23. 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; PMCID: PMC5003181.
    Citations: 15     Fields:    Translation:Humans
  24. 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: 2     Fields:    Translation:HumansCells
  25. 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: 26     Fields:    Translation:HumansAnimals
  26. 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: 23     Fields:    Translation:HumansCells
  27. 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; PMCID: PMC3260393.
    Citations: 65     Fields:    Translation:AnimalsCells
  28. 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; PMCID: PMC2701882.
    Citations: 83     Fields:    Translation:AnimalsCells
  29. 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: 154     Fields:    Translation:AnimalsCells
  30. 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: 150     Fields:    Translation:HumansAnimalsCells
  31. 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; PMCID: PMC1783803.
    Citations: 123     Fields:    Translation:HumansAnimalsCells
  32. 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: 10     Fields:    Translation:AnimalsCells
  33. 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; PMCID: PMC1866362.
    Citations: 44     Fields:    Translation:AnimalsCells
  34. 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: 134     Fields:    Translation:AnimalsCells
  35. 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: 49     Fields:    Translation:AnimalsCells
  36. 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: 30     Fields:    Translation:AnimalsCells
  37. 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: 78     Fields:    Translation:AnimalsCells
  38. 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: 113     Fields:    Translation:HumansAnimalsCells
  39. 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: 16     Fields:    Translation:Cells
  40. 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; PMCID: PMC2193479.
    Citations: 25     Fields:    Translation:AnimalsCells
  41. 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: 254     Fields:    Translation:AnimalsCells
  42. 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: 67     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.