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Items: 28


Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.

Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I.

Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):53-63. doi: 10.1002/ajmg.c.31760. Epub 2019 Dec 23.


Congenital Diaphragmatic Hernia Overview.

Longoni M, Pober BR, High FA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2006 Feb 1 [updated 2019 Mar 28].


Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

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; Undiagnosed Diseases Network, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A.

Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.


De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

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.

PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.


Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

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.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5247-5252. doi: 10.1073/pnas.1714885115. Epub 2018 Apr 30.


Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

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.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.


Case 3-2018: A 5-Month-Old Boy with Hypoglycemia.

Chan YM, Balza R, High FA.

N Engl J Med. 2018 Jan 25;378(4):381-389. doi: 10.1056/NEJMcpc1706107. No abstract available.


Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

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.

Hum Genet. 2017 Jun;136(6):679-691. doi: 10.1007/s00439-017-1774-y. Epub 2017 Mar 16.


Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Donahoe PK, Longoni M, High FA.

Am J Pathol. 2016 Oct;186(10):2532-43. doi: 10.1016/j.ajpath.2016.07.006. Epub 2016 Aug 24. Review.


De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M.

Am J Med Genet A. 2016 Sep;170(9):2457-61. doi: 10.1002/ajmg.a.37830. Epub 2016 Jul 1.


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.

Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE.

Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. No abstract available.


Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

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.

Proc Natl Acad Sci U S A. 2014 Aug 26;111(34):12450-5. doi: 10.1073/pnas.1412509111. Epub 2014 Aug 8.


Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

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.

Clin Genet. 2015 Apr;87(4):362-7. doi: 10.1111/cge.12395. Epub 2014 Apr 26.


Notch activation of Jagged1 contributes to the assembly of the arterial wall.

Manderfield LJ, High FA, Engleka KA, Liu F, Li L, Rentschler S, Epstein JA.

Circulation. 2012 Jan 17;125(2):314-23. doi: 10.1161/CIRCULATIONAHA.111.047159. Epub 2011 Dec 6.


Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development.

High FA, Jain R, Stoller JZ, Antonucci NB, Lu MM, Loomes KM, Kaestner KH, Pear WS, Epstein JA.

J Clin Invest. 2009 Jul;119(7):1986-96. doi: 10.1172/JCI38922. Epub 2009 Jun 8.


Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development.

High FA, Lu MM, Pear WS, Loomes KM, Kaestner KH, Epstein JA.

Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):1955-9. doi: 10.1073/pnas.0709663105. Epub 2008 Feb 1.


The multifaceted role of Notch in cardiac development and disease.

High FA, Epstein JA.

Nat Rev Genet. 2008 Jan;9(1):49-61. Review.


An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation.

High FA, Zhang M, Proweller A, Tu L, Parmacek MS, Pear WS, Epstein JA.

J Clin Invest. 2007 Feb;117(2):353-63.


N-cadherin is required for neural crest remodeling of the cardiac outflow tract.

Luo Y, High FA, Epstein JA, Radice GL.

Dev Biol. 2006 Nov 15;299(2):517-28. Epub 2006 Sep 9.


Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives.

Engleka KA, Gitler AD, Zhang M, Zhou DD, High FA, Epstein JA.

Dev Biol. 2005 Apr 15;280(2):396-406.


Nuclear repositioning marks the selective exclusion of lineage-inappropriate transcription factor loci during T helper cell differentiation.

Hewitt SL, High FA, Reiner SL, Fisher AG, Merkenschlager M.

Eur J Immunol. 2004 Dec;34(12):3604-13.


Cutting Edge: Innate production of IFN-gamma by NK cells is independent of epigenetic modification of the IFN-gamma promoter.

Tato CM, Martins GA, High FA, DiCioccio CB, Reiner SL, Hunter CA.

J Immunol. 2004 Aug 1;173(3):1514-7.


Gene silencing quantitatively controls the function of a developmental trans-activator.

Hutchins AS, Mullen AC, Lee HW, Sykes KJ, High FA, Hendrich BD, Bird AP, Reiner SL.

Mol Cell. 2002 Jul;10(1):81-91.


Hlx is induced by and genetically interacts with T-bet to promote heritable T(H)1 gene induction.

Mullen AC, Hutchins AS, High FA, Lee HW, Sykes KJ, Chodosh LA, Reiner SL.

Nat Immunol. 2002 Jul;3(7):652-8. Epub 2002 Jun 10.


Cell cycle controlling the silencing and functioning of mammalian activators.

Mullen AC, Hutchins AS, Villarino AV, Lee HW, High FA, Cereb N, Yang SY, Hua X, Reiner SL.

Curr Biol. 2001 Oct 30;11(21):1695-9.


Induction of cytotoxic T lymphocyte antigen 4 (CTLA-4) restricts clonal expansion of helper T cells.

Doyle AM, Mullen AC, Villarino AV, Hutchins AS, High FA, Lee HW, Thompson CB, Reiner SL.

J Exp Med. 2001 Oct 1;194(7):893-902.


Role of T-bet in commitment of TH1 cells before IL-12-dependent selection.

Mullen AC, High FA, Hutchins AS, Lee HW, Villarino AV, Livingston DM, Kung AL, Cereb N, Yao TP, Yang SY, Reiner SL.

Science. 2001 Jun 8;292(5523):1907-10.


The RGG domain in hnRNP A2 affects subcellular localization.

Nichols RC, Wang XW, Tang J, Hamilton BJ, High FA, Herschman HR, Rigby WF.

Exp Cell Res. 2000 May 1;256(2):522-32.


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