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Paul Grossfeld

Title(s)Clinical Professor, Pediatrics
SchoolHealth Sciences
Address9500 Gilman Drive #0984
La Jolla CA 92093
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. to make corrections and additions.
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    Altmetrics Details 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. Overexpression of Kif1A in the Developing Drosophila Heart Causes Valvar and Contractility Defects: Implications for Human Congenital Heart Disease. J Cardiovasc Dev Dis. 2020 Jun 02; 7(2). Akasaka T, Ocorr K, Lin L, Vogler G, Bodmer R, Grossfeld P. PMID: 32498427.
      View in: PubMed   Mentions:
    2. Model system identification of novel congenital heart disease gene candidates: focus on RPL13. Hum Mol Genet. 2019 12 01; 28(23):3954-3969. Schroeder AM, Allahyari M, Vogler G, Missinato MA, Nielsen T, Yu MS, Theis JL, Larsen LA, Goyal P, Rosenfeld JA, Nelson TJ, Olson TM, Colas AR, Grossfeld P, Bodmer R. PMID: 31625562.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    3. Endothelial-specific deletion of Ets-1 attenuates Angiotensin II-induced cardiac fibrosis via suppression of endothelial-to-mesenchymal transition. BMB Rep. 2019 Oct; 52(10):595-600. Xu L, Fu M, Chen D, Han W, Ostrowski MC, Grossfeld P, Gao P, Ye M. PMID: 30670148.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    4. 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 06; 5(3). Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P. PMID: 31160359.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome. World J Pediatr Congenit Heart Surg. 2019 May 22; 2150135118822678. Herrick NL, Lamberti J, Grossfeld P, Murthy R. PMID: 31117916.
      View in: PubMed   Mentions:    Fields:    
    6. Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease? J Cardiovasc Dev Dis. 2019 Feb 23; 6(1). Grossfeld P, Nie S, Lin L, Wang L, Anderson RH. PMID: 30813450.
      View in: PubMed   Mentions:
    7. 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. Ye M, Xu L, Fu M, Chen D, Mattina T, Zufardi O, Rossi E, Bush KT, Nigam SK, Grossfeld P. PMID: 30422383.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    8. Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV. World J Pediatr Congenit Heart Surg. 2018 Oct 08; 2150135118769418. Murthy R, Herrick NL, El-Said H, Grossfeld P, Moore J, Lamberti JJ. PMID: 30296907.
      View in: PubMed   Mentions:    Fields:    
    9. Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation. Med Sci Sports Exerc. 2017 07; 49(7):1293-1296. Herrick N, Davis C, Vargas L, Dietz H, Grossfeld P. PMID: 28240702.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Tissue specific requirements for WNT11 in developing outflow tract and dorsal mesenchymal protrusion. Dev Biol. 2017 09 01; 429(1):249-259. van Vliet PP, Lin L, Boogerd CJ, Martin JF, Andelfinger G, Grossfeld PD, Evans SM. PMID: 28669819.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    11. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017 Jul; 49(7):1152-1159. 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. PMID: 28530678.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansAnimalsCells
    12. 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. Grossfeld P. PMID: 28211970.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    13. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. Nat Commun. 2016 Mar 16; 7:10861. Nakamura T, Arima-Yoshida F, Sakaue F, Nasu-Nishimura Y, Takeda Y, Matsuura K, Akshoomoff N, Mattson SN, Grossfeld PD, Manabe T, Akiyama T. PMID: 26979507.
      View in: PubMed   Mentions: 7     Fields:    Translation:Animals
    14. Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome. Clin Transl Sci. 2015 Dec; 8(6):682-9. Glidewell SC, Miyamoto SD, Grossfeld PD, Clouthier DE, Coldren CD, Stearman RS, Geraci MW. PMID: 26534787.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    15. Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players. Clin J Sport Med. 2015 Nov; 25(6):546-50. Davis CK, Dyar DA, Vargas LA, Grossfeld PD. PMID: 25756701.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    16. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015 Sep; 169(3):239-50. Favier R, Akshoomoff N, Mattson S, Grossfeld P. PMID: 26285164.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    17. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med. 2014 Nov 27; 371(22):2061-71. 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. PMID: 25405392.
      View in: PubMed   Mentions: 85     Fields:    Translation:Humans
    18. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet Med. 2015 Feb; 17(2):143-8. Akshoomoff N, Mattson SN, Grossfeld PD. PMID: 25058499.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    19. 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. Ye M, Parente F, Li X, Perryman MB, Zelante L, Wynshaw-Boris A, Chen J, Grossfeld P. PMID: 24616287.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    20. 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. Esposito G, Butler TL, Blue GM, Cole AD, Sholler GF, Kirk EP, Grossfeld P, Perryman BM, Harvey RP, Winlaw DS. PMID: 22043484.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    21. 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. 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. PMID: 21344638.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    22. 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. Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. PMID: 20981770.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    23. Successful surgical closure of an arterial duct in 18 children in a third world country. Cardiol Young. 2010 Aug; 20(4):367-72. 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. PMID: 20482943.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    24. Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children. J Am Coll Cardiol. 2010 Mar 02; 55(9):928-9. Bratincsák A, El-Said HG, Bradley JS, Shayan K, Grossfeld PD, Cannavino CR. PMID: 20153131.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCellsPHPublic Health
    25. 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. Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfeld P. PMID: 19942620.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    26. 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. Krous HF, Ferandos C, Masoumi H, Arnold J, Haas EA, Stanley C, Grossfeld PD. PMID: 19287341.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    27. 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. Ye M, Hamzeh R, Geddis A, Varki N, Perryman MB, Grossfeld P. PMID: 19533782.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    28. Hypoplastic left heart syndrome: new genetic insights. J Am Coll Cardiol. 2009 Mar 24; 53(12):1072-4. Grossfeld P, Ye M, Harvey R. PMID: 19298922.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    29. Jacobsen syndrome. Orphanet J Rare Dis. 2009 Mar 07; 4:9. Mattina T, Perrotta CS, Grossfeld P. PMID: 19267933.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    30. 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. 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. PMID: 18855024.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    31. Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). Genet Couns. 2008; 19(2):225-35. Maas AP, Grossfeld PD, Didden R, Korzilius H, Braam WJ, Smits MG, Curfs LM. PMID: 18618998.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    32. Hypoplastic left heart syndrome: it is all in the genes. J Am Coll Cardiol. 2007 Oct 16; 50(16):1596-7. Grossfeld PD. PMID: 17936160.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    33. An 11q terminal deletion and tetralogy of Fallot. Am J Med Genet A. 2007 May 15; 143A(10):1126-8. Podraza J, Fleenor J, Grossfeld P. PMID: 17431904.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    34. Hypoplastic left heart syndrome: new insights. Circ Res. 2007 May 11; 100(9):1246-8. Grossfeld P. PMID: 17495231.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    35. Initial experience with high frequency ultrasound for the newborn C57BL mouse. Echocardiography. 2007 Apr; 24(4):412-9. Bose AK, Mathewson JW, Anderson BE, Andrews AM, Martin Gerdes A, Benjamin Perryman M, Grossfeld PD. PMID: 17381652.
      View in: PubMed   Mentions: 7     Fields:    Translation:Animals
    36. 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. Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M. PMID: 16502431.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    37. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005 Sep 08; 437(7056):270-4. Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. PMID: 16025100.
      View in: PubMed   Mentions: 391     Fields:    Translation:HumansAnimalsCells
    38. Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet A. 2005 Apr 15; 134A(2):171-9. 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. PMID: 15712195.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimals
    39. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004 Aug 15; 129A(1):51-61. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. PMID: 15266616.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansCells
    40. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. Am J Med Genet A. 2004 Aug 15; 129A(1):62-3. Haghi M, Dewan A, Jones KL, Reitz R, Jones C, Grossfeld P. PMID: 15266617.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    41. Ocular findings in Jacobsen syndrome. J AAPOS. 2004 Apr; 8(2):141-5. Lee WB, O'Halloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C. PMID: 15088047.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    42. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003 Nov; 90(5):893-7. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, Bertoni F, Cramer EM. PMID: 14597985.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    43. 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. Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP. PMID: 12798584.
      View in: PubMed   Mentions: 72     Fields:    Translation:Humans
    44. Balloon angioplasty and stenting of multiple intralobar pulmonary arterial stenoses in adult patients. Catheter Cardiovasc Interv. 2003 Feb; 58(2):252-60. Rothman A, Levy DJ, Sklansky MS, Grossfeld PD, Auger WR, Ajami GH, Behling CA. PMID: 12552552.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    45. The genetics of congenital heart disease. J Nucl Cardiol. 2003 Jan-Feb; 10(1):71-6. Grossfeld PD. PMID: 12569334.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    46. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. 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. PMID: 12210337.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    47. Maternal psychological impact of fetal echocardiography. J Am Soc Echocardiogr. 2002 Feb; 15(2):159-66. Sklansky M, Tang A, Levy D, Grossfeld P, Kashani I, Shaughnessy R, Rothman A. PMID: 11836491.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    48. Reptilian echocardiography: insights into ontogeny and phylogeny? Echocardiography. 2001 Aug; 18(6):531-3. Sklansky MS, Levy DJ, Elias WT, Morris P, Grossfeld PD, Kashani IA, Shaughnessy RD, Rothman A. PMID: 11567602.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    49. 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. Hart A, Melet F, Grossfeld P, Chien K, Jones C, Tunnacliffe A, Favier R, Bernstein A. PMID: 10981960.
      View in: PubMed   Mentions: 107     Fields:    Translation:HumansAnimalsCells
    50. 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. Jones C, Müllenbach R, Grossfeld P, Auer R, Favier R, Chien K, James M, Tunnacliffe A, Cotter F. PMID: 10767345.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    51. The genetics of hypoplastic left heart syndrome. Cardiol Young. 1999 Nov; 9(6):627-32. Grossfeld PD. PMID: 10593278.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    52. 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. 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. PMID: 10575203.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    53. Familial occurrence of pulmonary atresia with intact ventricular septum. Am J Med Genet. 1997 Oct 31; 72(3):294-6. Grossfeld PD, Lucas VW, Sklansky MS, Kashani IA, Rothman A. PMID: 9332657.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    54. Traumatic myocardial infarction during competitive volleyball: a case report. Med Sci Sports Exerc. 1993 Aug; 25(8):901-3. Grossfeld PD, Friedman DB, Levine BD. PMID: 8371649.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    55. The renal concentrating defect after gentamicin administration in the rat. J Lab Clin Med. 1983 Jun; 101(6):903-10. Gordon JA, Dillingham MA, Guggenheim SJ, Grossfeld PD, Anderson RJ. PMID: 6574196.
      View in: PubMed   Mentions: 1     Fields:    Translation:Animals