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Paul Grossfeld

Title(s)Clinical Professor, Pediatrics
SchoolHealth Sciences
Phone858-822-1957
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    Collapse Research 
    Collapse Research Activities and Funding
    The Role of IgLONS in Cardiac Development and Disease
    NIH/NHLBI K08HL070640Apr 1, 2003 - Mar 31, 2008
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Schroeder AM, Allahyari M, Vogler G, Missinato MA, Nielsen T, Yu MS, Theis JL, Larsen LA, Goyal P, Rosenfeld J, Nelson TJ, Olson TM, Colas AR, Grossfeld P, Bodmer R. Model System Identification of Novel Congenital Heart Disease Gene Candidates: focus on RPL13. Hum Mol Genet. 2019 Oct 18. PMID: 31625562.
      View in: PubMed
    2. Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P. Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3). PMID: 31160359.
      View in: PubMed
    3. Herrick NL, Lamberti J, Grossfeld P, Murthy R. Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome. World J Pediatr Congenit Heart Surg. 2019 May 22; 2150135118822678. PMID: 31117916.
      View in: PubMed
    4. Grossfeld P, Nie S, Lin L, Wang L, Anderson RH. Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease? J Cardiovasc Dev Dis. 2019 Feb 23; 6(1). PMID: 30813450.
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    5. Xu L, Fu M, Chen D, Han W, Ostrowski MC, Grossfeld P, Gao P, Ye M. Endothelial-specific deletion of Ets-1 attenuates Angiotensin II-induced cardiac fibrosis via suppression of endothelial-to-mesenchymal transition. BMB Rep. 2019 Jan 23. PMID: 30670148.
      View in: PubMed
    6. Ye M, Xu L, Fu M, Chen D, Mattina T, Zufardi O, Rossi E, Bush KT, Nigam SK, Grossfeld P. Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development. Am J Med Genet A. 2019 01; 179(1):71-77. PMID: 30422383.
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    7. Murthy R, Herrick NL, El-Said H, Grossfeld P, Moore J, Lamberti JJ. Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV. World J Pediatr Congenit Heart Surg. 2018 Oct 08; 2150135118769418. PMID: 30296907.
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    8. Herrick N, Davis C, Vargas L, Dietz H, Grossfeld P. Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation. Med Sci Sports Exerc. 2017 07; 49(7):1293-1296. PMID: 28240702.
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    9. van Vliet PP, Lin L, Boogerd CJ, Martin JF, Andelfinger G, Grossfeld PD, Evans SM. Tissue specific requirements for WNT11 in developing outflow tract and dorsal mesenchymal protrusion. Dev Biol. 2017 09 01; 429(1):249-259. PMID: 28669819.
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    10. Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, Peterson KA, Li Y, Schwartz MC, Reynolds WT, Saydmohammed M, Gibbs B, Wu Y, Devine W, Chatterjee B, Klena NT, Kostka D, de Mesy Bentley KL, Ganapathiraju MK, Dexheimer P, Leatherbury L, Khalifa O, Bhagat A, Zahid M, Pu W, Watkins S, Grossfeld P, Murray SA, Porter GA, Tsang M, Martin LJ, Benson DW, Aronow BJ, Lo CW. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017 Jul; 49(7):1152-1159. PMID: 28530678.
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    11. Grossfeld P. Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. Am J Med Genet A. 2017 Mar; 173(3):667-670. PMID: 28211970.
      View in: PubMed
    12. Nakamura T, Arima-Yoshida F, Sakaue F, Nasu-Nishimura Y, Takeda Y, Matsuura K, Akshoomoff N, Mattson SN, Grossfeld PD, Manabe T, Akiyama T. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. Nat Commun. 2016 Mar 16; 7:10861. PMID: 26979507.
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    13. Glidewell SC, Miyamoto SD, Grossfeld PD, Clouthier DE, Coldren CD, Stearman RS, Geraci MW. Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome. Clin Transl Sci. 2015 Dec; 8(6):682-9. PMID: 26534787.
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    14. Davis CK, Dyar DA, Vargas LA, Grossfeld PD. Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players. Clin J Sport Med. 2015 Nov; 25(6):546-50. PMID: 25756701.
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    15. Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015 Sep; 169(3):239-50. PMID: 26285164.
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    16. Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med. 2014 Nov 27; 371(22):2061-71. PMID: 25405392.
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    17. Akshoomoff N, Mattson SN, Grossfeld PD. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med. 2015 Feb; 17(2):143-8. PMID: 25058499.
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    18. Ye M, Parente F, Li X, Perryman MB, Zelante L, Wynshaw-Boris A, Chen J, Grossfeld P. Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects. Am J Med Genet A. 2014 Apr; 164A(4):966-74. PMID: 24616287.
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    19. Esposito G, Butler TL, Blue GM, Cole AD, Sholler GF, Kirk EP, Grossfeld P, Perryman BM, Harvey RP, Winlaw DS. Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart. Am J Med Genet A. 2011 Oct; 155A(10):2416-21. PMID: 22043484.
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    20. Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A. 2011 Mar; 155A(3):486-507. PMID: 21344638.
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    21. Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet. 2010 Nov 15; 154C(4):417-26. PMID: 20981770.
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    22. Grossfeld P, Greenberg M, Saw S, Cheng G, Stanzi A, Mathewson J, Pises N, Lyda L, Vuthy S, Elias W, Moriarty S, Levy S, Walter D, Panzarella P, Grossfeld S, Kriett J, Madani M. Successful surgical closure of an arterial duct in 18 children in a third world country. Cardiol Young. 2010 Aug; 20(4):367-72. PMID: 20482943.
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    23. Bratincsák A, El-Said HG, Bradley JS, Shayan K, Grossfeld PD, Cannavino CR. Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children. J Am Coll Cardiol. 2010 Mar 02; 55(9):928-9. PMID: 20153131.
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    24. Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet. 2010 Feb 15; 19(4):648-56. PMID: 19942620.
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    25. Krous HF, Ferandos C, Masoumi H, Arnold J, Haas EA, Stanley C, Grossfeld PD. Myocardial inflammation, cellular death, and viral detection in sudden infant death caused by SIDS, suffocation, or myocarditis. Pediatr Res. 2009 Jul; 66(1):17-21. PMID: 19287341.
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    26. Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. Am J Med Genet A. 2009 Jul; 149A(7):1438-43. PMID: 19533782.
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    27. Grossfeld P, Ye M, Harvey R. Hypoplastic left heart syndrome: new genetic insights. J Am Coll Cardiol. 2009 Mar 24; 53(12):1072-4. PMID: 19298922.
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    28. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009 Mar 07; 4:9. PMID: 19267933.
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    29. Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics. 2009 Apr; 10(2):89-95. PMID: 18855024.
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    30. Maas AP, Grossfeld PD, Didden R, Korzilius H, Braam WJ, Smits MG, Curfs LM. Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). Genet Couns. 2008; 19(2):225-35. PMID: 18618998.
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    31. Grossfeld PD. Hypoplastic left heart syndrome: it is all in the genes. J Am Coll Cardiol. 2007 Oct 16; 50(16):1596-7. PMID: 17936160.
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    32. Podraza J, Fleenor J, Grossfeld P. An 11q terminal deletion and tetralogy of Fallot. Am J Med Genet A. 2007 May 15; 143A(10):1126-8. PMID: 17431904.
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    33. Grossfeld P. Hypoplastic left heart syndrome: new insights. Circ Res. 2007 May 11; 100(9):1246-8. PMID: 17495231.
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    34. Bose AK, Mathewson JW, Anderson BE, Andrews AM, Martin Gerdes A, Benjamin Perryman M, Grossfeld PD. Initial experience with high frequency ultrasound for the newborn C57BL mouse. Echocardiography. 2007 Apr; 24(4):412-9. PMID: 17381652.
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    35. Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. Am J Med Genet A. 2006 Apr 01; 140(7):704-8. PMID: 16502431.
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    36. Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 08; 437(7056):270-4. PMID: 16025100.
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    37. Wessels MW, Berger RM, Frohn-Mulder IM, Roos-Hesselink JW, Hoogeboom JJ, Mancini GS, Bartelings MM, Krijger Rd, Wladimiroff JW, Niermeijer MF, Grossfeld P, Willems PJ. Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet A. 2005 Apr 15; 134A(2):171-9. PMID: 15712195.
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    38. Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A. 2004 Aug 15; 129A(1):62-3. PMID: 15266617.
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    39. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004 Aug 15; 129A(1):51-61. PMID: 15266616.
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    40. Lee WB, O'Halloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C. Ocular findings in Jacobsen syndrome. J AAPOS. 2004 Apr; 8(2):141-5. PMID: 15088047.
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    41. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003 Nov; 90(5):893-7. PMID: 14597985.
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    42. Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol. 2003 Jun 04; 41(11):2072-6. PMID: 12798584.
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    43. Rothman A, Levy DJ, Sklansky MS, Grossfeld PD, Auger WR, Ajami GH, Behling CA. Balloon angioplasty and stenting of multiple intralobar pulmonary arterial stenoses in adult patients. Catheter Cardiovasc Interv. 2003 Feb; 58(2):252-60. PMID: 12552552.
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    44. Grossfeld PD. The genetics of congenital heart disease. J Nucl Cardiol. 2003 Jan-Feb; 10(1):71-6. PMID: 12569334.
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    45. Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. PMID: 12210337.
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    46. Sklansky M, Tang A, Levy D, Grossfeld P, Kashani I, Shaughnessy R, Rothman A. Maternal psychological impact of fetal echocardiography. J Am Soc Echocardiogr. 2002 Feb; 15(2):159-66. PMID: 11836491.
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    47. Sklansky MS, Levy DJ, Elias WT, Morris P, Grossfeld PD, Kashani IA, Shaughnessy RD, Rothman A. Reptilian echocardiography: insights into ontogeny and phylogeny? Echocardiography. 2001 Aug; 18(6):531-3. PMID: 11567602.
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    48. Hart A, Melet F, Grossfeld P, Chien K, Jones C, Tunnacliffe A, Favier R, Bernstein A. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity. 2000 Aug; 13(2):167-77. PMID: 10981960.
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    49. Jones C, Müllenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Hum Mol Genet. 2000 May 01; 9(8):1201-8. PMID: 10767345.
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    50. Grossfeld PD. The genetics of hypoplastic left heart syndrome. Cardiol Young. 1999 Nov; 9(6):627-32. PMID: 10593278.
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    51. Gaudray P, Carle GF, Gerhard DS, Gessler M, Mannens MM, Athanasiou M, Bliek J, Calender A, Debelenko LV, Devignes M, Evans GA, Favier R, Forbes S, Gaudray G, Gawin B, Gordon M, Grimmond S, Grossfeld P, Harris J, Hattori M, Hosoda F, Hummerich H, James M, Kalla J, Katsanis N. Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998. Cytogenet Cell Genet. 1999; 86(3-4):167-86. PMID: 10575203.
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    52. Grossfeld PD, Lucas VW, Sklansky MS, Kashani IA, Rothman A. Familial occurrence of pulmonary atresia with intact ventricular septum. Am J Med Genet. 1997 Oct 31; 72(3):294-6. PMID: 9332657.
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    53. Grossfeld PD, Friedman DB, Levine BD. Traumatic myocardial infarction during competitive volleyball: a case report. Med Sci Sports Exerc. 1993 Aug; 25(8):901-3. PMID: 8371649.
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    54. Gordon JA, Dillingham MA, Guggenheim SJ, Grossfeld PD, Anderson RJ. The renal concentrating defect after gentamicin administration in the rat. J Lab Clin Med. 1983 Jun; 101(6):903-10. PMID: 6574196.
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