Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Amy Elizabeth Roberts, M.D.

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Research
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. UM1HL098147 (NEWBURGER, JANE W.) Sep 30, 2009 - Jul 31, 2020
    NIH/NHLBI
    The Genomic Basis of Congenital Heart Disease and Neurodevelopmental Outcomes
    Role: Co-Principal Investigator
  2. U01HL098147 (ROBERTS, AMY) Sep 30, 2009 - Aug 31, 2015
    NIH/NHLBI
    Copy Number Variants for Discovery of Congenital Heart Genes
    Role: Co-Principal Investigator
  3. M01RR002172 (MANDELL, JAMES WILLIAM) Jan 1, 1983 - Mar 31, 2009
    NIH/NCRR
    General Clinical Research Center
    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. Morton SU, Maleyeff L, Wypij D, Yun HJ, Newburger JW, Bellinger DC, Roberts AE, Rivkin MJ, Seidman JG, Seidman CE, Grant PE, Im K. Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Cereb Cortex. 2019 Jun 19. PMID: 31216004.
    Citations:    
  2. Jaffré F, Miller CL, Schänzer A, Evans T, Roberts AE, Hahn A, Kontaridis MI. iPSC-Derived Cardiomyocytes Reveal Aberrant ERK5 and MEK1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome. Circulation. 2019 Jun 05. PMID: 31163979.
    Citations:    
  3. Hylind RJ, Chandler SF, Beausejour Ladouceur V, Roberts AE, Bezzerides V, Christensen KD, Coggins M, Lakdawala NK, MacRae CA, Abrams DJ. Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. Circ Genom Precis Med. 2019 Mar; 12(3):e002463. PMID: 30919684.
    Citations:    
  4. Li R, Baskfield A, Lin Y, Beers J, Zou J, Liu C, Jaffré F, Roberts AE, Ottinger EA, Kontaridis MI, Zheng W. Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene. Stem Cell Res. 2019 01; 34:101374. PMID: 30640061.
    Citations:    Fields:    
  5. Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 12 06; 103(6):1054-1055. PMID: 30526864.
    Citations:    Fields:    
  6. Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 11 01; 103(5):786-793. PMID: 30343942.
    Citations:    Fields:    
  7. Hoang TT, Goldmuntz E, Roberts AE, Chung WK, Kline JK, Deanfield JE, Giardini A, Aleman A, Gelb BD, Mac Neal M, Porter GA, Kim R, Brueckner M, Lifton RP, Edman S, Woyciechowski S, Mitchell LE, Agopian AJ. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. PMID: 29351346.
    Citations:    Fields:    Translation:Humans
  8. Jenkins KJ, Roberts AE. Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy. Pediatrics. 2017 11; 140(5). PMID: 29046385.
    Citations:    Fields:    Translation:HumansCells
  9. Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. PMID: 28991257.
    Citations: 15     Fields:    Translation:Humans
  10. Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawula W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017 Oct; 10(5). PMID: 29025761.
    Citations: 2     Fields:    Translation:HumansCells
  11. Rollins CK, Newburger JW, Roberts AE. Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay? Curr Opin Pediatr. 2017 10; 29(5):529-533. PMID: 28719389.
    Citations: 1     Fields:    Translation:Humans
  12. Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483. PMID: 28719049.
    Citations:    Fields:    Translation:Humans
  13. Ebrahimi-Fakhari D, Freiman E, Wojcik MH, Krone K, Casey A, Winn AS, Roberts AE, Harper BD. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. PMID: 28363362.
    Citations:    Fields:    Translation:Humans
  14. Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. 2016 Mar; 135(3):273-85. PMID: 26742502.
    Citations: 10     Fields:    Translation:HumansCells
  15. Bellinger DC, Watson CG, Rivkin MJ, Robertson RL, Roberts AE, Stopp C, Dunbar-Masterson C, Bernson D, DeMaso DR, Wypij D, Newburger JW. Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure. J Am Heart Assoc. 2015 Dec 14; 4(12). PMID: 26667085.
    Citations: 6     Fields:    Translation:Humans
  16. Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. PMID: 26785492.
    Citations: 82     Fields:    Translation:HumansCells
  17. Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov; 36(11):1080-7. PMID: 26173643.
    Citations: 9     Fields:    Translation:HumansCells
  18. Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol. 2015 Jul 01; 39(1):13-19. PMID: 26380542.
    Citations: 9     
  19. Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 07; 96(5):753-64. PMID: 25892112.
    Citations: 19     Fields:    Translation:Humans
  20. Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89. PMID: 25574029.
    Citations: 18     Fields:    Translation:HumansAnimals
  21. Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. PMID: 25516202.
    Citations: 15     Fields:    Translation:Humans
  22. Pierpont EI, Tworog-Dube E, Roberts AE. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Dev Med Child Neurol. 2015 Apr; 57(4):385-92. PMID: 25366258.
    Citations: 4     Fields:    Translation:Humans
  23. Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. PMID: 25180280.
    Citations: 11     Fields:    Translation:Humans
  24. Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 05; 111(31):11473-8. PMID: 25049390.
    Citations: 28     Fields:    Translation:HumansCells
  25. Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang DZ, Li K, Wang J, Wanders RJ, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker KK, Pu WT. Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med. 2014 Jun; 20(6):616-23. PMID: 24813252.
    Citations: 146     Fields:    Translation:HumansCells
  26. Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet. 2014 Aug 15; 23(16):4315-27. PMID: 24705357.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  27. Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE, Lacro RV. Cardiovascular disease in Noonan syndrome. Arch Dis Child. 2014 Jul; 99(7):629-34. PMID: 24534818.
    Citations: 10     Fields:    Translation:Humans
  28. Fahed AC, Roberts AE, Mital S, Lakdawala NK. Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27. PMID: 24275306.
    Citations: 4     Fields:    Translation:Humans
  29. Pierpont EI, Tworog-Dube E, Roberts AE. Learning and memory in children with Noonan syndrome. Am J Med Genet A. 2013 Sep; 161A(9):2250-7. PMID: 23918208.
    Citations: 5     Fields:    Translation:Humans
  30. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. PMID: 23665959.
    Citations: 207     Fields:    Translation:HumansCells
  31. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013 Jan 26; 381(9863):333-42. PMID: 23312968.
    Citations: 85     Fields:    Translation:Humans
  32. Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3106-11. PMID: 23165751.
    Citations: 5     Fields:    Translation:Humans
  33. Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov; 158A(11):2726-32. PMID: 23045169.
    Citations: 16     Fields:    Translation:Humans
  34. Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):14035-40. PMID: 22904188.
    Citations: 34     Fields:    Translation:HumansCells
  35. Briere LC, Roberts AE, Joshi V. Correspondence regarding genetic assessment following increased nuchal translucency and normal karyotype. Prenat Diagn. 2012 Jun; 32(6):607-8; author reply 609-10. PMID: 22622833.
    Citations:    Fields:    Translation:Humans
  36. Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Nprl3 is required for normal development of the cardiovascular system. Mamm Genome. 2012 Aug; 23(7-8):404-15. PMID: 22538705.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  37. Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A. 2012 Jun; 158A(6):1411-3. PMID: 22528146.
    Citations: 7     Fields:    Translation:Humans
  38. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. PMID: 22464770.
    Citations: 33     Fields:    Translation:HumansCells
  39. Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. PMID: 21716121.
    Citations: 28     Fields:    Translation:HumansCells
  40. Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart. Am J Med Genet A. 2011 Feb; 155A(2):367-71. PMID: 21271656.
    Citations: 8     Fields:    Translation:Humans
  41. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct; 126(4):746-59. PMID: 20876176.
    Citations: 79     Fields:    Translation:Humans
  42. Lage K, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA. Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22; 6:381. PMID: 20571530.
    Citations: 40     Fields:    Translation:HumansCells
  43. Pierpont EI, Ellis Weismer S, Roberts AE, Tworog-Dube E, Pierpont ME, Mendelsohn NJ, Seidenberg MS. The language phenotype of children and adolescents with Noonan syndrome. J Speech Lang Hear Res. 2010 Aug; 53(4):917-32. PMID: 20543023.
    Citations: 4     Fields:    Translation:Humans
  44. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Am J Med Genet A. 2010 Mar; 152A(3):591-600. PMID: 20186801.
    Citations: 8     Fields:    Translation:HumansCells
  45. Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A. 2010 Jan; 152A(1):4-24. PMID: 20014119.
    Citations: 28     Fields:    Translation:HumansCells
  46. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010 Jan; 42(1):27-9. PMID: 19966803.
    Citations: 65     Fields:    Translation:HumansAnimalsCells
  47. Lee I, Pecinova A, Pecina P, Neel BG, Araki T, Kucherlapati R, Roberts AE, Hüttemann M. A suggested role for mitochondria in Noonan syndrome. Biochim Biophys Acta. 2010 Feb; 1802(2):275-83. PMID: 19835954.
    Citations: 21     Fields:    Translation:HumansAnimalsCells
  48. Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. PMID: 19178939.
    Citations: 3     Fields:    Translation:Humans
  49. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. 2009 Apr; 8(3):275-82. PMID: 19077116.
    Citations: 17     Fields:    Translation:Humans
  50. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May; 82(5):1171-7. PMID: 18423521.
    Citations: 52     Fields:    Translation:HumansCells
  51. Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 01; 358(18):1899-908. PMID: 18403758.
    Citations: 88     Fields:    Translation:Humans
  52. Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Starý J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M. Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia. 2007 May; 21(5):1108-9. PMID: 17315019.
    Citations: 8     Fields:    Translation:Humans
  53. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan; 39(1):70-4. PMID: 17143285.
    Citations: 140     Fields:    Translation:Humans
  54. Patel AM, Kim JB, Roberts AE, Aragam J. Double-chambered right ventricle in an adult with Noonan syndrome. Cardiol Rev. 2006 Sep-Oct; 14(5):e16-20. PMID: 16924159.
    Citations:    Fields:    Translation:Humans
  55. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24; 355(8):788-98. PMID: 16928994.
    Citations: 298     Fields:    Translation:Humans
  56. Roberts AE, Rehm H, McDonough B, Barr S, Seidman C, Seidman J, Kucherlapati R. The PTPN11 gene and nonsyndromic isolated hypertrophic cardiomyopathy: no evidence of a causal link. Am J Med Genet. 2005; 132A(3).
  57. Roberts AE, Hult B, Rehm HL, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman JG, Kucherlapati RS. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet A. 2005 Jan 30; 132A(3):333-4. PMID: 15578621.
    Citations: 2     Fields:    Translation:Humans
  58. Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7. PMID: 15372522.
    Citations:    Fields:    Translation:HumansCells
  59. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63. PMID: 15264280.
    Citations: 8     Fields:    Translation:HumansCells
  60. Ostroy SE, Roberts AE, Knapp-Miller J, Spisak JM. Availability of 11-cis retinal and opsins without chromophore as revealed by small bleaches of rhodopsin in excised albino mouse eyes. Vision Res. 2003 Dec; 43(28):3069-73. PMID: 14611943.
    Citations:    Fields:    Translation:Animals
  61. Demmer LA, O'Neill MJ, Roberts AE, Clay MC. Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA. 2000 Nov 22-29; 284(20):2595-6. PMID: 11086364.
    Citations: 5     Fields:    Translation:Humans
  62. Atkins KM, Roberts AE, Cochran N. . How Medical Students Can Bring About Curricular Change. Academic Medicine. 1998; 73(11):1173-6.
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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.