Peer-Reviewed Publications

1). Tsutomu Nakamura, Fumiko Arima-Yoshida, Fumika Sakaue, Yukiko Nasu-Nishimura, Yasuko Takeda, Ken Matsuura, Natacha Akshoomoff, Sarah Mattson, Paul D. Grossfeld, Toshiya Manabe & Tetsu Akiyama.  PX-RICS-deficient mice mimic Jacobsen syndrome-related autism spectrum disorder through impaired GABAA receptor trafficking.  (Nature Communications, 2016)

2).  Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome.  Glidewell SC, Miyamoto SD, Grossfeld PD, Clouthier DE, Coldren CD, Stearman RS, Geraci MW.  Clin Transl Sci. 2015 Nov 4.

3).  Favier R, Akshoomoff N, Mattson S, Grossfeld PJacobsen syndrome: Advances in our knowledge of phenotype and genotype.  Am J Med Genet C Semin Med Genet. 2015 Aug 18.

4).  Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players.  Davis CK, Dyar DA, Vargas LA, Grossfeld PD.  Clin J Sport Med. 2015 Feb 10.

5).  Atenolol versus losartan in children and young adults with Marfan's syndrome.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; Pediatric Heart Network Investigators.  N Engl J Med. 2014 Nov 27;371(22):2061-71.

6).  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.

7).  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

8). Lacro RV, Guey LT, Dietz HC, Pearson GD, Yetman AT, Gelb BD, Loeys BL, Benson DW, Bradley TJ, De Backer J, Forbus GA, Klein GL, Lai WW, Levine JC, Lewin MB, Markham LW, Paridon SM, Pierpont ME, Radojewski E, Selamet Tierney ES, Sharkey AM, Wechsler SB, Mahony L; Pediatric Heart Network InvestigatorsCharacteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.  Am Heart J. 2013 May;165(5):828-835.e3. doi: 10.1016/j.ahj.2013.02.019. Epub 2013 Mar 26.

9).  Giorgia Esposito, Tanya L. Butler, Gillian M. Blue, Andrew D. Cole, Gary F. Sholler, Edwin P. Kirk, Paul Grossfeld, Benjamin M. Perryman, Richard P. Harvey, David S.Winlaw.  Somatic Mutations in NKX2-5, GATA4 and HAND1 Are Not a Common Cause of Tetralogy of Fallot or Hypoplastic Left Heart Syndrome.  American Journal of Medical Genetics, 2011. 2011 Oct;155A(10):2416-21.

10).  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 Feb 22

11).  Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R.  Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletionsAm J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):417-26.1).

12).  Grossfeld P, et. al.  Successful surgical closure of hemodynamically significant ductus arteriosus in 18 children in a third world country. Cardiol Young. 2010 Aug;20(4):367-7

13).  Bratincsák A, El-Said HG, Bradley JS, Shayan K, Grossfeld PD*, Cannavino CR* (*Co-senior authors).  Fulminant myocarditis associated with pandemic H1N1 influenza A virus in children.  J Am Coll Cardiol. 2010 Mar 2;55(9):928-9

14).  Ye M, Coldren C, Benson W, Goldmuntz E, Ostrowski M, Watson D, Perryman B, Grossfeld P. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.  Human Molecular Genetics, 2010  Feb 15;19(4):648-56.  Epub 2009 Nov 26.

15).  Ye M, Geddis A, Perryman MB, and 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):1438-4

16).  Coldren C., Lai Z and Grossfeld P. Comparative genomic hybridization 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.

17).  Grossfeld P, Ye M, Harvey R.  Hypoplastic left heart syndrome: new genetic insights.  J Am Coll Cardiol. 2009 Mar 24;53(12):1072-4.

18).  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 Mar 12.

19).  Mattina T, Perrotta CS, Grossfeld PJacobsen syndrome.  Orphanet J Rare Dis. 2009 Mar 7;4:9.

20).  Maas M, Grossfeld P and Curfs L. Sleep Problems in Individuals with 11q Terminal Deletion Disorder (Jacobsen syndrome).  (Genet Couns. 2008;19(2):225-35)

21). Podraza J, Fleenor J, Grossfeld P An 11q terminal deletion and tetralogy of Fallot.  Am J Med Genet A. 2007 May 15;143(10):1126-8

22).  Bose AK, Mathewson  JW, Anderson B, Perryman RB, and Grossfeld PD   Normative Echocardiographic Data obtained via High Frequency Ultrasound for the C57BL Mouse newborn.   Echocardiography. 2007 Apr;24(4):412-9.

23).  Sharon L. Wenger, Paul D. Grossfeld, Benjamin L. Siu, James E. Coad, Frank G. Keller, Marybeth Hummel. Molecular characterization of an interstitial deletion in a patient with the 11q terminal deletion disorder. AJMG (2006)

24).  Garg V, Muth A, Ransom J, Schluterman M, Barnes R, King I, Grossfeld P, Srivastava D.  Mutations in NOTCH1 cause aortic valve disease.  Nature (2005) Sep 8; 437:270-4

25).  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 Feb 14

26).  Haighe M; Jones KL; Jones C and Grossfeld PD.  Insulin Growth Factor-1 deficiency in the 11q deletion disorder. American Journal of Medical Genetics (2004)  129A:  62-63

27).  Grossfeld PD, et. al.: The terminal 11q deletion disorder: A prospective study of 110 cases.  American Journal of Medical Genetics (2004) 129A:  51-61

28).  Lee B, Grossfeld P, et. al.  Ophthalmologic findings in the 11q terminal deletion syndrome. J AAPOS. 2004 Apr;8(2):141-5.

29).  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.

30).  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 4;41(11):2072-6.

31).  Rothman A, Levy DJ, Sklansky MS, Grossfeld PD, Auger WR, Ajami GH, Behling CA.Balloon dilation of multiple intralobar pulmonary arterial stenoses in adult patients.  Catheter Cardiovasc Interv. 2003 Feb;58(2):252-60.

32).  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 Jr.; Nicholson L. A prospective study of Costello Syndrome.  Am J Med Gen 2002 Aug 1;111(2):115-29.

33).  Sklansky M, Tan 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

34).  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

35).  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 homozygously deleted in patients with thrombocytopenia.  Immunity 13:167-177 (2000).

36).  Jones C; Mullenbach R; Grossfeld P; Auer R; Favier R; Chien K; James M; Tunnacliffe A; Cotter F: Co-localization of CCG repeats and chromosome deletion breakpoints in Jacobean syndrome: evidence for a common mechanism of chromosome breakage.  Hum Mol Gen 9(8): 1201-1208  (2000).

37).  Grossfeld PD; Lucas VW; Sklansky MS; Kashani IA; Rothman A. Familial occurrence of pulmonary artesia with intact ventricular septum in two cousins.  Am J of Med Gen 72:294-296 (1997).

38).  Grossfeld PD; Friedman DB; Levine BD: Traumatic myocardial infarction during competitive volleyball: A case report.  Med and Science in Sports and Exercise. 25(8): 901-903 (1993).

39).  Gordon JA; Dillingham MA; Grossfeld PD; Anderson RJ: Renal concentration defect following gentamicin in the rat.  J Lab Clin Med 101(6): 903-910 (1983).


Book Chapters

1).  Grossfeld PD:  The genetics of hypoplastic left heart syndrome, Hanai Heinnein (ed).  2002

2).  Grossfeld PD: Congenital heart defects: Cardiovascular genetics.  Pieter A.F.M. Doevendans (ed). 2001

3).  Grossfeld PD and Chien, KR: Molecular genetics of congenital heart disease.   Etiology and morphogenesis of congenital heart disease: Twenty years of progress in genetics and developmental biology. Clark EB, Nakazawa M, Takao A. (eds) Futura, 2000.

4).  Grossfeld PD; Rothman A, Chien, KR: The molecular genetics of congenital heart disease. In: Molecular basis of cardiovascular disease, Ed by K.R. Chien (ed) W.B. Saunders. 135-165, 1998. (Companion text to E. Braunwald's Heart Disease).

5).  Burke TJ; Arnold PE; Gordon J; Grossfeld PD; Schrier RW. Functional and cellular protection by a slow channel calcium blocker in ischemic acute renal failure.  Acute renal failure. Schrier RW (ed) (1984).

Invited Papers

1).  Genetic basis of heart defects in Jacobsen syndrome.  Proceedings of the Takao Meeting on Cardiac Development (2016).

2).  Grossfeld P  Hypoplastic left heart syndrome:  New genetic insights.  JACC  2008.Invited guest editorial

3).  Grossfeld P.  Hypoplastic left heart syndrome:  It's all in the genes.  JACC.  2007 (October).  Invited guest editorial.

4).  Grossfeld P.  Hypoplastic left heart syndrome: new insights.  Circ Res. 2007 May 11;100(9):1246-8.  Invited guest editorial.

6).  Grossfeld PD.  The molecular genetics of hypoplastic left heart syndrome.   Cardiology in the Young. 9:627-632 (1999).

7).  Grossfeld PD.  The genetics of congenital heart disease.  Journal of Nuclear Cardiology. J Nucl Cardiol. 2003 Jan-Feb;10(1):71-6.

8).  Grossfeld, PD.  A genetic approach to hypoplastic left heart syndrome, in:  Cardiovascular Development and Congenital Malformations.  Ed by Artman M, Benson DW, Srivastava D, Nakazawa K.  Blackwell Futura, 2005:  248-252.