{"id":114,"date":"2016-09-19T16:26:02","date_gmt":"2016-09-19T16:26:02","guid":{"rendered":"http:\/\/labs.icahn.mssm.edu\/gelblab\/?page_id=114"},"modified":"2021-06-15T13:48:29","modified_gmt":"2021-06-15T13:48:29","slug":"publications","status":"publish","type":"page","link":"https:\/\/labs.icahn.mssm.edu\/gelblab\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"
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Kontorovich AR, Tang Y, Patel N, Georgievskaya Z, Shadrina M, Williams N, Moscati A, Itan Y, Sampson B, Gelb BD. Burden of cardiomyopathic genetic variation in lethal pediatric myocarditis. Circ Genom Precis Med, in press.<\/em><\/p>\n

Das TK, Gatto J, Mirmira R, Houizadeh E, Kaufman D, Gelb BD*, Cagan R*. Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy. iScience 2021, 24:102306. *Co-corresponding authors. PMCID: PMC8026909<\/em><\/p>\n

Wenger BM, Patel N, Lui M, Moscati A, Do R, Stewart DR, Tartaglia M, Muin\u0303o-Mosquera L, De Backer J, Kontorovich AR, Gelb BD. A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations. Genet Med 2020, 23:94-102.<\/em>
\nPMCID: PMC7796917<\/em><\/p>\n

Richter R, Morton SU, Kim SW, Kitaygorodsky A, Wasson L, Chen KM, Zhou J6, Qi H, Patel N, DePalma S, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell JA, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Role of noncoding de novo variants in congenital heart disease. Nat Genet 2020, 52:769-777.<\/em><\/p>\n

Seiden AH, Richter F, Patel N, Rodriguez OL, Deikus G, Shah H, Smith M, Roberts A, King EC, Sebra RP, Sharp AJ, Gelb BD. Elucidation of de novo small insertion\/deletion biology with parent-of-origin phasing. Hum Mut 2020, 41:800-806. PMCID: PMC7069802<\/em><\/p>\n

Manheimer KB, Richter F, Edelmann LJ, D\u2019Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, SEidman JG, Gelb BD. Robust identification of mosaic variants in congenital heart disease. Hum Genet 2018, 137:183-193. PMCID: PMC5997246.<\/em><\/p>\n

Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmutz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutation 2018, 39:870-881. PMCID: PMC6022753. [Role: Co-senior author]<\/em><\/p>\n<\/div>\n<\/div>\n

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Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD,<\/strong> Sharp AJ. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet 2020, 16:e1009189. PMCID: PMC7679001<\/em><\/p>\n<\/div>\n<\/div>\n<\/div>\n

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Richter F, Hoffman G, Manheimer KB, Patel N, Sharp A, McKean D, Morton S, Dpalma S, Gorham J, Kitaygorodksy A, Porter GA, Shen Y, Chung WK, Seidman JG, Seidman C, Schadt EE, Gelb BD. ORE identifies extreme expression effect enriched for rare variants. Bioinformatics 2019, 35:3906-3912. PMCID: PMC6792115<\/em><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lornezo L, Boucherit S, Stoven C, Di Filippo S, Abel L*, Zhang S-Y*, Bonnet D*, Gelb BD*, Casanova J-L*. Autosomal recessive cardiomyopathy presenting as acute myocarditis. J Amer Coll Cardiol 2017, 69:1653-1665. PMCID: PMC5551973. * indicates equal contribution.<\/em><\/p>\n<\/div>\n<\/div>\n<\/div>\n

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Carvajal-Vergara X, Sevilla A, D\u2019Souza SL, Ang Y-S, Schaniel C, Lee D-F, Yang L, Kaplan AD, Adler ED, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka I. Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome. Nature 2010, 465:808-812. PMCID: PMC2885001<\/em><\/p>\n

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Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann LJ, Gelb BD. The impact of CNVs on clinical outcomes for infants with single ventricle heart defects. Circulation Cardiovasc Genet<\/em> 2013, 6:444-451.<\/p>\n

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Josowitz R, Lu J, Falce C, D\u2019Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PLOS ONE<\/em> 2014, 9:e101316.<\/p>\n

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Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K*, Gelb BD*. RAF1 <\/em>mutations in childhood-onset dilated cardiomyopathy. Nat Genet<\/em> 2014, 46:635-639. * denotes co-senior authorship. PMCID: PMC4049514<\/p>\n

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Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. A PTPN11 <\/em>allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Am J Med Genet<\/em> 2014, 164A:2351-2355.<\/p>\n

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Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Chih Hin S, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, Lopez-Giraldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi Hongjian, Vardarajan B, Ma Lijiang, 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.<\/em> De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science<\/em> 2015, 350:1262-1266. * indicates equal contribution. PMCID: PMC4890146.<\/p>\n

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Mulero-Navarro S, Sevilla A, Roman AC, Lee DF, D’Souza SL, Pardo S, Riess I, Su J, Cohen N, Schaniel C, Rodriguez NA, Baccarini A, Brown BD, Cav\u00e9 H, Caye A, Strullu M, Yalcin S, Park CY, Dhandapany PS, Yongchao G, Edelmann L, Bahieg S, Raynal P, Flex E, Tartaglia M, Moore KA, Lemischka IR, Gelb BD. Myeloid dysregulation in a human induced pluripotent stem cell model of PTPN11<\/em>-associated juvenile myelomonocytic leukemia. Cell Rep<\/em> 2015, 13:504-515.<\/em> PMCID: PMC4618050.<\/p>\n

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Edwards JJ, Gelb BD. Genetics of congenital heart disease. Curr Opin Cardiol<\/em> 2016, 31:235-241. PMCID: PMC4868504<\/p>\n

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Josowitz R, Mulero-Navarro S, Rodriguez NA, Falce C, Cohen N, Ullian EM, Weiss LA, Rauen KA, Sobie EA, Gelb BD. Autonomous and non-autonomous defects underlie hypertrophic cardiomyopathy in BRAF-mutant hiPSC-derived CMs. Stem Cell Rep<\/em>, in press.<\/p>\n

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McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE*, Gelb BD<\/strong>*, Seidman JG*. Loss of RNA expression and allele specific expression associated with congenital heart disease. Nature Comm<\/em>, in press. * indicates equal contribution.<\/p>\n

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 <\/p>\n","protected":false},"excerpt":{"rendered":"

Kontorovich AR, Tang Y, Patel N, Georgievskaya Z, Shadrina M, Williams N, Moscati A, Itan Y, Sampson B, Gelb BD. Burden of cardiomyopathic genetic variation in lethal pediatric myocarditis. Circ Genom Precis Med, in press. Das TK, Gatto J, Mirmira R, Houizadeh E, Kaufman D, Gelb BD*, Cagan R*. Drosophila RASopathy models identify disease subtype […]<\/p>\n","protected":false},"author":705,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-114","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/pages\/114","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/users\/705"}],"replies":[{"embeddable":true,"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/comments?post=114"}],"version-history":[{"count":7,"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/pages\/114\/revisions"}],"predecessor-version":[{"id":349,"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/pages\/114\/revisions\/349"}],"wp:attachment":[{"href":"https:\/\/labs.icahn.mssm.edu\/gelblab\/wp-json\/wp\/v2\/media?parent=114"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}