Elizabeth Goldmuntz, MD, FAAP, FACC

Papers

2021

Ward TL,Tai W,Morton SU, Impens F, VanDamme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JA, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA, Lifton R, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira AC, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman CE, Seidman JG.: Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res Feb 2021.

Rychik J, Goldmuntz E: The Hunt for Mechanistic Origins of Liver Fibrosis in the Fontan Circulation. World  J Pediatr Congenit Heart Surg 12(2): 173-175, Mar 2021.

2020

Agopian A.J., Hoang T, Goldmuntz E, Hakonarson H, Musfee F, Mitchell L, Pediatric Cardiac Genomics Consortium: X Chromosome Association Studies of Congenital Heart Defects. Amer Journal of Med Genetics Part A 182(1): 250-254, Jan 2020.

Li YR,Glessner JT,Coe BP,Li J.Mohebnasab M,Chang X,Connolly J,Kao C,Wei Z,Bradfield J,Kim C,Hou C,Khan M,Mentch F,Qiu H,Bakay M,Cardinale C,Lemma M,Abrams D,Bridglall-Jhingoor A,Behr M,Harrison S,Otieno G,Thomas A,Wang F,Chiavacci R,Wu L,Hadley D,Goldmuntz E,Elia J,Maris J,Grundmeier R,Devoto M,Keating B,March M,Pellagrino R,Grant SFA,Sleiman PMA,Li M,Eichler EE,Hakonarson H: Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nat Commun 11(1): 255, Jan 2020.

Zhao Y,Diacou A,Johnston HR,Musfee FI,McDonald-McGinn DM,McGinn D,Crowley TB,Repetto GM,Swillen A,Breckpot J,Vermeesch JR,Kates WR,Digilio MC,Unolt M,Marino B,Pontillo M,Armanod M,Di Fabio F,Vicari S,van den Bree M,Moss H,Owen MJ, Murphy KC,Murphy CM,Murphy D,Schoch K,Shashi V,Tassone F,Simon TJ,Shprintzen RJ,Campbell L,Phillip N,Heine-Suner D,Garcia-Minaur S,Fernandez L,International 22q11.2 Brain and Behavior Consortium,Bearden CE,Vingerhoets C,van Amelsvoort T,Eliez S,Schneider M,Vorstman JAS,Gothelf D,Zackai E,Agopian AJ,Gur RE,Bassett AS,Emanuel BS,Goldmuntz E,Mitchell LE,Wang T,Morrow BE: Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22Q11.2 Deletion Syndrome  Reveals Modifiers of Conotruncal Heart Defects. Am J Hum Genet 106(1): 26-40, Jan 2020.

Bailey J,Elci OU,Mascio CE,Mercer-Rosa L,Goldmuntz E: Staged Versus Complete Repair in the Symptomatic Neonate With Tetralogy of Fallot. Ann Thoracic Surg 109(3): 802-808, Mar 2020.

Edwards JJ,Rouillard AD,Fernandez NF,Wang Z,Lachmann A,Shankaran SS,Bisgrove BW,Demarest B,Turan N,Srivastava D,Bernstein D,Deanfield J,Giardini A,Porter G,Kim R,Roberts A,Newburger J,Goldmuntz E, Brueckne M,Lifton RP,Seidman CE,Chung WK,Tristani-Firouzi M,Yost HJ,Ma'ayan A,Gelb BD: Systems Analysis Implicates WAVE2 Conplex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects  JACC Basic Transl Sci 5(4): 376-386, Apr 2020.

Hsieh A, Morton SU,Willcox JAL,Gorham JM,Tai AC,Qi H,DePalma S,McKean D,Griffin E,Manheimer KB,Bernstein D,Kim RW,Newburger JW,Porter GA Jr,Srivastava D,Tristani-Firouzi M,Brueckner M,Lifton RP,Goldmuntz E,Gelb BD,Chung WK,Seidman CE,Seidman JG,Shen Y: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med 12(1): 42, Apr 2020.

Beslow LA,Breimann J,Licht DJ,Waldman J,Fallacaro S,Pyeritz RE,Goldmuntz E,Vossough A: Cerebrovascular Malformations in a Pediatric Hereditary Hemorraghic Telangiectasia Cohort. Pediatri Neurol May 2020.

Ritter A,Werner P,Latney B,Krock BL,Santani A,Bedoukian E,Skraban CM,Deardorff MA,Goldmuntz E: NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet A 182(6): 1454-1459, June 2020.

Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Musfee F, Taylor D, Mitchell L: Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. Plos One 15(6), June 2020.

Van Driest SL, Sleeper LA, Dietz H, Forbus G, Gelb BD, Goldmuntz E, Grossfeld P, Hoskoppal A, James J, Lacro RV, Lee T, Levine J, Li J, Loeys B, Markham L, Meester JAN, Mital S, Morris SA, Mosley JD, Olson A, Renard M, Shaffer C, Sharkey  A, Young L, Roden DM. Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. : Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome J Pediatr(222), 213-220.e5, July 2020 Notes: Available 2021-07-01.

O'Byrne ML, DeCost G, Katcoff H, Savla J, Chang J, Goldmuntz E,  Groeneveld P, Rossano J, Faerber J, and Mercer-Rosa L: Resource Utilization in the First Two Years After Operative Correction for Tetralogy of Fallot. J Am Heart Assoc 9(15), Aug 2020.

Richter F,Morton SU,Kim SW,Kitaygorodsky A,Wasson LK,Chen KM,Zhou J,Qi H,Patel N, DePalma SR,Parfenov M,Homsy J,Gorham JM,Manheimer KB,Velinder M,Farrell A,Marth G,Schadt EE,Kaltman JR,Newburger JW,Giardini A,Goldmuntz E,Brueckner M,Kim R,Porter GA Jr,Bernstein D,Chung WK,Srivastava CE,Gelb BD: Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet 52(8): 769-777, Aug 2020.

Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE; Pediatric Cardiac Genomics Consortium. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 Oct 15;9:e53278. doi: 10.7554/eLife.53278. PMID: 33054971; PMCID: PMC7593088.: GATA6 Mutations in hiPSCs Inform Mechanisms for Maldevelopment of the Heart, Pancreas, and Diaphragm.  Pediatric Cardiac Genomics Consortium Oct 2020 Notes: Elife 2020 Oct 15;9:e53278. doi: 10.7554/eLife.53278.

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,Sharp AJ: Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. Plos Genet 16(11), Nov 2020.

Butensky A, Pandolfi de Rinaldis C, Patel S, Edman S, Bailey A, McGinn D, Zackai E, Crowley T, McDonald-McGinn D, Min J, Goldmuntz E: Cardiac Evaluation of Patients with 22q11.2 Duplication Syndrome. Am J of Med Gen Part A 2020.

2019

Bhatt SM, Elci OU, Wang Y, Goldmuntz E, McBride M, Parison S, Mercer-Rosa L: Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography. Pediatr Cardiol  40(1): 71-78, Jan 2019.

Bhatt SM, Wang Y, Elci OU, Goldmuntz E, McBride M, Paridon S, Mercer-Rosa L: Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study. J Am Soc Echocardiogr 32(1): 135-144, Jan 2019.

Hoang TT,Goldmuntz E,Roberts AE,Chung WK,Kline JK,Deanfield JE,Giardini A,Aleman A,Gelb BD,Mac Neal M,Porter GA Jr,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 13(1), Jan 2019.

Kaplinski M, Goldmuntz E, Mitchell L, Hammond D, Taylor, Agopian AJ, : The Association of Elevated Maternal Genetic Risk Scores for Hypertension, type 2 Diabetes and Obesity and Having a Child with a Congenital Heart Defect. PLOS ONE 14(5), May 2019.

Sewda A,Agopian AJ,Goldmuntz E,Hakonarson H,Morrow BE,Taylor D,Mitchell LE,Pediatric Cardiac Genomics Consortium: Gene based genome-wide association studies and meta-analyses of conotruncal heart defects. PloS One 14(7), Jul 2019.

Hoang TT,Manso PH,Edman S,Mercer-Rosa L,Mitchell LE,Sewda A,Swartz MD,Fogel MA,Agopian AJ,Goldmuntz E: Genetic variants of HIF1a are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients:a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson 21(1): 51, Aug 2019.

Xie H, Taylor D, Zhang Z, McDonald-McGinn D, Zackai E, Stambolian D, Hakonarson H, Morrow B, Emanuel B, Goldmuntz E: Copy Number Variations in Individuals with Conotruncal Heart Defects Reveal Some shared Developmental Pathways Irrespective of 22q11.2 Deletion Status. Birth Defects Research 111(13): 888-905, Aug 2019.

Savla JJ,Faerber JA,Huang YV,Zaoutis T,Goldmuntz E,Kawut SM,Mercer-Rosa L: 2-Year Outcomes After Complete or Staged Procedure for Tetralogy of Fallot in Neonates. J Am Coll Cardiol 74(12): 1570-1579, Sep 2019.

Watkins WS,Hernandez EJ,Wesolowski S,Bisgrove BW,Sunderland RT,Lin E,Lemmon G,Demarest BL,Miller TA,Bernstein D,Brueckner M,Chung WK,Gelb BD,Goldmuntz E,Newburger JW,Seidman CE,Shen Yost HJ,Yandell M,Tristani-Firouzi M: De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun 10(1): 4722, Oct 2019

Hoang T, Goldmuntz E, Roberts AE, Chung WK, Kline JK, Yee R, Aleman A, Gelb BD, Mac Neal M, Porter G, 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 13(1), Jan 2018.

Manheimer K, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung W, Seidman CE, Seidman JG, Gelb B: Robust identification of mosaic variants in congenital heart disease. Hum Genet 137(2): 183-193, Feb 2018.

Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz 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 Mutat Mar 2018.

O'Byrne ML, McBride MG, Paridon S, Goldmuntz E : Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A study of children and adolescents with tetralogy of Fallot, transposition of the great Arteries, and Fontan palliation World J Pediatr Congenit Heart Surg Mar 2018.

DiLorenzo MP, Elci OU, Wang Y, Banerjee A, Sato T, Ky B, Goldmuntz E, Mercer-Rosa L: Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair. J Am Soc Echocardiogr Apr 2018.

DiLorenzo MP, Goldmuntz E, Micolson SC, Fogel MA, Mercer-Rosa L: Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study. Cardiol Young May 2018.

DiLorenzo MP, Goldmuntz E, Nicolson SC, Fogel MA, Mercer-Rosa L: Early Post-Operative Hemodynamic Profile Following Repair of Tetralogy of Fallot by Unsedated Cardiac MRI Using the Feed and Sleep Technique. Pediatr Cardiol 28(5): 697-701, May 2018.

Mercer-Rosa L, Elci OU, DeCost G, Woyciechowski S, Edman S, Ravishankar C, Mascio C, Kawut SM, Goldmuntz E: Predictors of Length of Hospital Stay After Complete Repair for Tetralogy of Fallot: A Prospective Cohort Study. J Am Heart Assoc 7(11), May 2018.

Mercer-Rosa L, Elci OU, Pinto NM, Tanel RE, Goldmuntz E : 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels. Pediatr Cardiol 39(5): 906-910, Jun 2018.

DiLorenzo M, Wang W, Goldmuntz E, Ky B, Mercer-Rosa L: Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization. Echocardiography August 2018.

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM: What Is New with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A 176(10): 2058-2069, Oct 2018.

Mercer-Rosa L, Fogel MA, Paridon SM, Rychik J, Yang W, Goldmuntz E: Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic and Magnetic Resonance Study. JACC Cardiovasc Imaging 11(10): 1547-1548, Oct 2018.

Mercer-Rosa L, Zhang X, Tanel RE, Rychik J, Fogel ME, Paridon SM, Goldmuntz E: Perioperative Factors Influence the Long Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot. Pediatr Cardiol 39(7), Oct 2018.

Rayannavar A, Katz L, Crowley T, Lessig M, Grand K, Goldmuntz E, Zackai E, McGinn D : Association of Hypocalcemia with Congenital Heart Disease in 22q11.2 Deletion Syndrome. Am J Med Genet A  176(10): 2099-2103, Oct 2018.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trzzi M, carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B: Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers. Am J Med Genet A 176(10): 2087-2098, Oct 2018.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur J Hum Genet Oct 2018.

Loges NT, Antony D, Deardorff MA, Gulec EY, Gezdirici A, Nothe-Menchen T, Hoben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M: Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet Page: pii: S0002-9297(18)30372-0, Nov 2018.

2017

Bhatt M, Goldmuntz E, Fogel MA, Rychik J, Mercer-Rosa L: Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot. Pediatric cardiology 38(2): 240-246, Feb 2017.

Anwar S, Harris MA, Whitehead KK, Keller MS, Goldmuntz E, Fogel MA, Mercer-Rosa L: The impact of the right ventricular outflow tract patch on right ventricular strain in Tetralogy of Fallot. A comparison with valvar pulmonary stenosis utilizing Cardiac magnetic resonance. Pediatr Cardiol  38(3): 617-623, Mar 2017.

Bhat M, Mercer-Rosa L, Fogel MA, Harris MA, Paridon SM, McBride MG, Shults J, Zhang X, Goldmuntz E: Longitudinal changes in adolescents with TOF: implications for care. Eur Heart J Cardiovasc Imaging 18(3): 356-363, Mar 2017.

O'Byrne ML, Desai S, Lane M, McBride M, Paridon S, Goldmuntz E: Relationship Between Habitual Exercise and Performance on Cardiopulmonary Exercise Testing Differs Between Children With Single and Biventricular Circulations. Pediatr Cardiol 38(3): 472-483, Mar 2017.

Xie HM, Werner P, Stambolian D, Bailey-Wilson JE, Hakonarson H, White PS, Taylor DM, Goldmuntz E: Rare Copy Number Variants in Patients with Congenital Conotruncal Heart Defects. Birth Defects Res Mar 2017.

Londono-Obregon C, Goldmuntz E, Davey BT, Zhang X, Slap GB, Kim YY: Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options. Cardiol Young 27(4): 671-676, May 2017.

Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell L, Pediatric Cardiac Genetics Consortium: Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovas Genet 10(3): e001449, Jun 2017.

Bhatt SM, Goldmuntz E, Cassedy A, Marino BS, Mercer-Rosa L: Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis. Pediatr Cardiol Aug 2017.

Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D: T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease. J Allergy Clin Immunol Pract Sep 2017.

Goldmuntz E, Cassedy A, Mercer-Rosa L, Fogel MA, Paridon SM, Marino BS: Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot. J Pediatr 189: 162-168, Oct 2017.

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, Hawuła 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 10(5), Oct 2017.

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 Jr, 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 49(11): 1593-1601, Nov 2017.

2016

Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L,Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW: DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia. PLoS Genet 12(2), Feb 2016.

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; International Chromosome 22q11.2 Consortium: Rare copy number variants and congenital heart defects in the 22q11.2deletion syndrome. Hum Genet 135(3): 273-85, Mar 2016.

Werner P, Latney B, Deardorff MA, Goldmuntz E: MESP1 mutations in patients with congenital heart defects. Hum Mutat 37(3): 308-14, Mar 2016.

Londono C, Goldmuntz E, Davey BT, Zhang X, Slap GB, Kim YY. : Adult congenital heart disease: the ongoing need for physician counseling about heredity and contraceptive options. Cardiol Young Jul 2016 Notes: Accepted CTY-16-Feb-053.R1.

McKean D, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma S, Ware K, Zaidi S, Ma W, Patel N, Lifton R, Chung W, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp A, Seidman C, Gelb B, Seidman J : Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun 27(7): 12824, Sept 2016.

Ahrens-Nicklas1 RC, Khan S, Garbarini J, Woyciechowski S, D'Alessandro S, Zackai EH, Deardorff MA, Goldmuntz E: Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Am J Med Genet A 170(12): 3090-3097, Dec 2016

2015

Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E: Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet 24(1): 265-73, Jan 2015.

O'Byrne ML, Glatz AC, Mercer-Rosa L, Gillespie MJ, Dori Y, Goldmuntz E, Kawut S, Rome JJ: Trends in pulmonary valve replacement in children and adults with tetralogy of Fallot. Am J Cardiol 115(1): 118-24, Jan 2015.

Mercer-Rosa L, Paridon SM, Fogel MA, Rychik J, Tanel RE, Zhao H, Zhang X, Yang W, Shults J, Goldmuntz E: 22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot. Circ Cardiovasc Genet 8(1): 74-81, Feb 2015.

Racedo S, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou1 B, Funke B, Morrow BE: Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 5(96): 235-44, Feb 2015.

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; International Chromosome 22q11.2 Consortium: Copy number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet 5(96): 753-64, May 2015.

Peyvandi S, Rychik J, Zhang X, Shea JA, Goldmuntz E: Preconceptual folic acid use and recurrence risk counseling for congenital heart disease. Congenit Heart Dis 10(3): 219-25, May-Jun 2015.

Avitabile CM, Goldberg DJ, Zemel BS, Brodsky JL, Dodds K, Hayden-Rush C, Whitehead KK, Goldmuntz E, Rychik J, Leonard MB: Deficits in bone density and structure in children and young adults following Fontan palliation. Bone 77: 12-6, Aug 2015.

Fogel MA, Pawlowski T, Keller MS, Cohen MS, Goldmuntz E, Diaz L, Li C, Whitehead KK, Harrisa MA: The cardiovascular effects of obesity on ventricular function and mass in patients after tetralogy of Fallot repair. J Pediatr 167(2): 325-330, Aug 2015.

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 Jr, 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 350(6265): 1262-6, Dec 2015.

2014

D'Alessandro L, Werner P, Xie H, Hakonarson H, White P, Goldmuntz E: The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis 9(1): 83-6, Jan-Feb 2014.

O'Byrne ML, Mercer-Rosa L, Zhao H, Zhang X, Yang W, Tanel RE, Marino BS, Cassedy A, Fogel MA, Rychik J, Paridon S, Goldmuntz E: Morbidity in children and adolescents after surgical correction of interrupted aortic arch. Pediatr Cardiol 35(3): 386-92, Mar 2014.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE: Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 165B(2): 137-47, Mar 2014.

Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E: Genome-wide association study identifies maternal and inherited candidate loci for conotruncal heart defects. Plos One 9(5): e96057, May 2014.

Peyvandi S, Ingall E, Woyciechowski S, Garbarini J, Mitchell LE, Goldmuntz E: Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families. Am J Med Genet A 164A(6): 1490-5, Jun 2014.

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y: CANOES: Detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res 42(12): e97, Jul 2014.

Glessner J, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika EJ, Vardarajan B, Italia MJ, Leipzig J, DePalma S, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK: Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. Circ Res 115(10): 884-96, Sept 2014.

O'Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, Goldmuntz E: 22q11.2 deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch. J Thorac Cardiovasc Surg 148(4): 1597-605, Oct 2014.

Avitabile CM, Leonard MB, Zemel BS, Brodsky JL, Lee D, Dodds K, Hayden-Rush C, Whitehead KK, Goldmuntz E, Paridon SM, Rychik J, Goldberg DJ: Lean mass deficits, vitamin D status, and exercise capacity in children and young adults after Fontan palliation. Heart 100(21): 1702-7, Nov 2014.

Reddy S, Fung A, Manlhiot C, Selamet Tierney ES, Chung WK, Blume E, Kaufman BD, Goldmuntz E, Colan S, Mital S: Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy. Pediatr Res 77(2): 363-9, Nov 2014.

Mercer-Rosa L, Ingall E, Zhang X, McBride M, Kawut S, Fogel M, Paridon S, Goldmuntz E: The impact of pulmonary insufficiency on the right ventricle: A comparison of isolated valvar pulmonary stenosis and tetralogy of Fallot. Pediatr Cardiol Dec 2014.

Werner P, Paluru P, Simpson AM, Latney B, Iyer R, Brodeur GM, Goldmuntz E: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. Hum Mutat 35(12): 1459-68, Dec 2014.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E: Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. Birth Defects Res A Clin Mol Teratol 100(12): 951-64, Dec 2014.

2013

Lin KY, D'Alessandro LCA, Goldmuntz E: Genetic testing in congenital heart disease: Ethical considerations. World J Pediatr Congenit Heart Surg 4(1): 53-57, Jan 2013.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP: A family with a complex clinical presentation characterized by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A 161A(2): 371-6, Feb 2013.

Pediatric Cardiac Genomics Consortium, Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E: The congenital heart disease genetic network study: Rationale, design, and early results. Circ Res 112(4): 698-706, Feb 2013.

D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E: The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A 161(4): 792-802, Apr 2013.

John AS, Rychik J, Khan M, Yang W, Goldmuntz E: 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot. Cardiol Young 10: 1-8, Apr 2013.

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 M, 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 A, 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 498(7453): 220-3, June 2013.

O'Byrne ML, Mercer-Rosa L, Zhao H, Zhang X, Yang W, Cassedy A, Fogel MA, Rychik J, Tanel RE, Marino BS, Paridon S, Goldmuntz E: Morbidity in children and adolescents after surgical correction of Truncus Arteriosus Communis. Am Heart J 166(3): 512-8, Sept 2013.

Mercer-Rosa L, Pinto N, Yang W, Tanel R, Goldmuntz E: 22q11.2 deletion syndrome is associated with perioperative outcome in tetralogy of Fallot. J Thorac Cardiovasc Surg 146(4): 868-73, Oct 2013.

Peyvandi S, Lupo P,Garbarini J, Woyciechowski S, Edman S, Emanuel B, Mitchell L, Goldmuntz E: 22q11.2 deletions in patients with conotruncal defects: Data from 1610 consecutive cases. Pediatr Cardiol 34(7): 1687-94, Oct 2013.

Kaufman BD, Videon N, Zhang X, Harris MA, Shaddy RE, Goldmuntz E: Procollagen type III amino-terminal propeptide: A serum biomarker of left ventricular remodelling in paediatric dilated cardiomyopathy. Cardiol Young 6: 1-10, Nov 2013.

Mercer-Rosa L, Parnell A, Forfia PR, Yang W, Goldmuntz E, Kawut SM: Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot. J Am Soc Echocardiogr 26(11): 1322-9, Nov 2013.

Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA; American Heart Association Council on Functional Genomics and Translational Biology; American Heart Association Council on Epidemiology and Prevention; American Heart Association Council on Basic Cardiovascular Sciences; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular and Stroke Nursing; American Heart Association Stroke Council: Genetics and genomics for the prevention and treatment of cardiovascular disease: update: A scientific statement from the American Heart Association. Circulation 128(25): 2813-51, Dec 2013.

2012

Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'Arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS: Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 17(4): 402-11, Apr 2012.

O'Byrne ML, Mercer-Rosa L, Ingall E, McBride MG, Paridon S, Goldmuntz E: Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities. Pediatr Cardiol 34(4): 853-60, Apr 2012.

Mercer-Rosa L, Yang W, Kutty S, Rychik J, Fogel M, Goldmuntz E: Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging. Circ Cardiovasc Imaging 5(5): 637-43, Sept 2012 Notes: (Circulation Editors' Picks: Most Read Articles in Cardiovascular Imaging, Part II).

Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID: Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A 158A(10): 2499-505, Oct 2012.

2011

Goldmuntz E: How to get started on a research career (Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference). Am Heart J 161(1): 13-67, Jan 2011.
Lupo P, Mitchell L, Goldmuntz E: NAT1, NOS3 and TYMS genotypes and the risk of conotruncal cardiac defects. Birth Defects Res A Clin Mol Teratol 91: 61-65, Jan 2011.

Harris MA, Whitehead KK, Gillespie MJ, Liu TY, Cosulich MT, Shin DC, Goldmuntz E, Weinberg PM, Fogel MA: Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistance. J Am Coll Cardiol Img 4: 506-513, May 2011.

Mital S, Chung WK, Colan SD, Sleeper LA, Manlhiot C, Arrington CB, Cnota JF, Graham EM, Mitchell ME, Goldmuntz E, Li JS, Levine JC, Lee TM, Margossian R, Hsu DT on behalf of the Pediatric Heart Network Investigators: Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation 123: 2353-2362, May 2011.

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion Sydrome Consortium: Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159(2): 332-339, Aug 2011.

Huang GY, Xie LJ, Linask KL, Zhang C, Zhao XQ, Yang Y, Zhou GM, Wu YJ, Marquez-Rosado L, McElhinney DB, Goldmuntz E, Liu C, Lampe PD, Chatterjee B, Lo CW: Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models. J Cardiovasc Dis Res 2(4): 206-212, Oct 2011.

Long J, Lupo PJ, Goldmuntz E, Mitchell LE: Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects. Birth Defects Res A Clin Mol Teratol 91(10): 879-884, Oct 2011.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH: Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 6(6): 592-602, Nov 2011.

Guo T, McGinn DM, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B, The International Chromosome 22q11.2 Consortium: Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 Velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mut 32(11): 1278-1289, Nov 2011.

2010

Lupo P, Goldmuntz E, Mitchell L: Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. J Biomed Biotechnol 2010(630940), Jan 2010.

Mitchell LE, Long J, Garbarini J, Paluru P, Goldmuntz E: Variants of folate metabolism genes and risk of left-sided cardiac defects. Birth Defects Res A Clin Mol Teratol 88(1): 48-53, Jan 2010.

Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, Ivy D, Perryman MB, Garrett-Sinha LA, Grossfield 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 19(4): 648-656, Feb 2010.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJD, Woyciechowski S, Garbarini J, Loomes KM, Kranz ID, Urban Z, Gelb BD, Goldmuntz E*, Spinner NB: Jagged1 mutations in patients with tetralogy of Fallot or Pulmonic Stenosis. Hum Mutat 31(5): 594-601, May 2010 Notes: (*co-senior author).

2009

Chin AJ, Stephens P, Goldmuntz E, Leonard MB: Serum alkaline phosphatase reflects post-Fontan hemodynamics in children. Pediatr Cardiol 30(2): 138-145, Feb 2009.

Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE: Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85(2): 125-129, Feb 2009.

Collins RT, Weinberg PM, Goldmuntz E, Harris M: Images in cardiovascular medicine. Partial anomalous left pulmonary artery. Circulation 119: 2405-2407, May 2009.

John AS, McDonald-McGinn DM, Zakai E, Goldmuntz E: Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A 149(A)(5): 939-942, May 2009.

Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Velz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M: Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab 98(1-2): 225-234, Sept-Oct 2009.

Shaikh TH, Gai X, Perin JC,Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL:, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SFA, White PS, Hakonarson H: High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19(9): 1682-1690, Sept 2009.

2008

Roessler E, Ouspenskaia MV, Karkera JD, Velez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M: Reduced NODAL signaling strength via mutation of severall pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. AM J Hum Genet 83(1): 18-29, July 2008.

Hobbie WL, Moshang T, Carlson CA, Goldmuntz E, Sacks N, Goldfarb SB, Grupp SA, Ginsberg JP: Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma. Pediatr Blood Cancer 51(5): 679-683, Nov 2008.

Goldmuntz E, Woyciechowski S, Renstrom D, Lupo PJ, Mitchell LE: Variants of folate metabolism genes and the risk of conotruncal cardiac defects. Circ Cardiovasc Genet 1: 126-132, Dec 2008.

2007

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M: Loss-of-function mutations in Growth Development Factor - 1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81(5): 987-994, Nov 2007.

Rajagopal SK, Ma Q, Obler D, Shen J, Manichakul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson W, Smoot LB, Tswenching P: Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 43: 677-685, Dec 2007.

Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E: GATA4 sequence variants in congenital heart disease patients. J Med Genet 44: 779-783, Dec 2007.

2005

McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, LaRossa D, Emanuel BS, Zackai EH: The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet 134A: 242-246, Apr 2005.

Muncke N, Niesler B, Roeth R, Schoen K, Heinz-Juergen R, Goldmuntz E, Goodship J, Rappold G: Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA). BMC Medical Genetics 6: 20, May 2005.

Lambrechts D, Devriendt K, Driscoll DA, Goldmuntz E, Gewillig M, Vlietinck R, Collen D, Carmeliet P: Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 42: 519-522, June 2005.

Johnson TR, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Fogel MA: Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion. Am J Cardiol 96: 1726-1730, Dec 2005.

2004

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT: Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A 101: 14222-14227, Sept 2004.

2003

Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL: Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72: 1047-1052, Apr 2003.

Tworetzky W, McElhinney DB, Margossian R, Moon-Grady AJ, Sallee D, Goldmuntz E, van der Velde ME, Silverman NH, Allan LD: Association between cardiac tumors and tuberous sclerosis in the fetus and neonate. Am J Cardiol 92: 487-489, Aug 2003.

McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E: Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatr Cardiol 24: 569-573, Nov 2003.

McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E: NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42: 1650-1655, Nov 2003.

McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E: Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112: e472, Dec 2003.

Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (dTGA). Circulation 108: 2843-2850, Dec 2003.

2002

Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M: CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am J Hum Genet 70: 776-780, Mar 2002.

McElhinney DB, Jacobs I, McDonald-McGinn D, Zackai E, Goldmuntz E: Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Ped Otorhin 66(1): 23-27, Oct 2002.

McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E: Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106: 2567-2574, Nov 2002.

McElhinney DB, Straka M, Goldmuntz E*, Zackai EH*: Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 113: 238-241, Dec 2002 Notes: (*listed as co-senior authors).

2001

McElhinney DB, Clark BJ, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, Zackai EH, Goldmuntz E: Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 37: 2114-2119, June 2001.

McElhinney DB, Hoydu AK, Gaynor JW, Spray TL, Goldmuntz E, Weinberg PM: Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without intracardiac anomalies. Pediatr Cardiol 22: 285-291, July - Aug 2001.

Goldmuntz E, Geiger E, Benson DW: NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104: 2565-2568, Nov 2001.

Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 38: E45, Dec 2001.

McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E: Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond six months of age. Pediatrics 108: E104, Dec 2001.

1999

Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA: Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29: 822-829, Mar 1999.

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB: Jagged 1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 84: 56-60, May 1999.

Gerdes M, Solot C, Wang PP, Moss E, Jawad A, DeCosta AM, LaRossa D, Randall P, Goldmuntz E, Clark BJ, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Batshaw M, Zackai EH: Cognitive and behavorial profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 85: 127-133, July 1999.

McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Driscoll DA, Pasquariello P, Randall P, LaRossa D, Emanuel BS, Zackai EH: The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counseling 10: 11-24, 1999.

1998

Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA: Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32: 492-498, Aug 1998.

1997

McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH: Detection of 22q11.2  deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 99(5): E9, May 1997.

Goldmuntz E, Fedon J, Roe B, Budarf M: Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region. Gene 198: 379-386, Oct 1997.

Rychik J, Fogel MA, Donofrio MT, Goldmuntz E, Cohen MS, Spray TL, Jacobs ML: Comparison of patterns of pulmonary venous blood flow in the functional single ventricle heart after operative aorto-pulmonary shunt vs. superior cavo-pulmonary shunt. Am J Cardiol 80: 922-926, Oct 1997.

McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll DA, Clark BJ, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH: The 22q11.2 deletion: Screening, diagnostic workup and outcome of results. Report on 181 patients. Genetic Testing 1: 99-108, 1997.

1996

Goldmuntz E, Wang Z, Roe BA, Budarf ML: Cloning, genomic organization and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics 33: 271-276, Apr 1996.

Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll DA, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel JA, Bell CJ, Emanuel BS: Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 35: 275-288, July 1996.

1993

Goldmuntz E, Driscoll DA, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS: Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30: 807-812, Oct 1993.

Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo, TP, Goldmuntz E, Emanuel BS, Driscoll DA: The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet 47: 1078-1082, Nov 1993.

Books

Chapters

2016

Goldmuntz E, Crenshaw M: Genetic aspects of congenital heart defects. Moss & Adams' Heart Disease in Infants, Children, and Adolescents. Allen, Driscoll, Shaddy, Feltes (eds.) (eds.). Lippincott Williams & Wilkins, 9th ed: 87-115, Mar 2016.

2015

Goldmuntz E: The 22q11.2 Deletion Syndrome. Congenital Heart Disease: Molecular Genetics, Principles of Diagnosis and Treatment. Muenke M, Kruszka PS, Sable CA, Belmont JW (eds.). Karger, Chromosomal Disorders: 100-111, 2015 Notes: DOI: 10.1159/000375208.

2012

Goldmuntz E, Crenshaw M, Lin AE: Genetic aspects of congenital heart defects. Moss & Adams' Heart Disease in Infants, Children, and Adolescents Allen, Driscoll, Shaddy, Feltes (eds.). Lippincott Williams & Wilkins 8th: 617-43, Oct 2012.

D'Alessandro L, Peyvandi S, Schachtner S, Goldmuntz E: The genetics of abnormal cardiac development. Pediatric Practice: Cardiology. Shaddy R, Gleason M, Rychik J (eds.). McGraw-Hill Professional, Page: 77-94, Apr 2012.

2009

Goldmuntz E: Tetralogy of Fallot. Encyclopedia of Molecular Mechanisms of Disease. Lang, F (eds.). Springer, Berlin Heidelberg New York, Part 20: 2039-2041, 2009.

Botto LD, Goldmuntz E, Lin AE: Epidemiology and prevention of congenital heart defects. Moss and Adams' Heart Disease in Infants, Children and Adolescents, Including the Fetus and Young Adult. Allen H, Driscoll D, Shaddy R, and Feltes T (eds.). Lippincott, Williams and Wilkins, Philadelphia, Page: 524-545, 2009.

2008

Goldmuntz E, Lin AE: Genetics of congenital heart defects. Moss and Adams' Heart Disease in Infants, Children and Adolescents, Including the Fetus and Young Adult. Allen H, Driscoll D, Shaddy R, and Feltes T  (eds.). Lippincott, Williams and Wilkins, Philadelphia, Page: 545-572, 2008.

2006

Goldmuntz E, Moore E, Spinner NB: The cardiovascular manifestations of Alagille Syndrome and JAG1 mutations. Methods in Molecular Medicine. Congenital Heart Disease: Molecular Diagnostics.  Kerns-Jonker, M (eds.). Humana Press, Totowa, NJ, Page: 217-231, Apr 2006.

Schneider HE, Goldmuntz E: The genetics of congenital heart disease. Pediatr Cardiol: The Requisites in Pediatrics. Schneider HE, Goldmuntz E (eds.). Mosby, Philadelphia, Page: 145-157, Jan 2006.

2005

Goldmuntz E: DiGeorge syndrome: New insights. Clinics in Perinatology.  Congenital Heart Disease: Impact on the Fetus, Pregnancy, Neonate, and Family. Wernovsky G, Berger S, Rubenstein SD (eds.). Elsevier, Saunders, Page: 963-978, Dec 2005.

2003

McElhinney DB, Goldmuntz E: Double chambered right ventricle. Diagnosis and Management of Adult Congenital Heart Disease. Gatzoulis M, Webb G, Daubeney P (eds.). Elsevier Limited, London, Page: 305-341, 2003.

Goldmuntz E: The epidemiology and genetics of hypoplastic left heart syndrome. Cpt 1. The Hypoplastic Left Heart Syndrome. Rychik J and Wernovsky G (eds.). Kluwer Academic Publishers, Page: 1-8, 2003 Notes: Published in Norwell, MA.

2001

Goldmuntz E. Special section on genetics and epidemiology of pulmonary atresia and ventricular septal defect. In: O'Leary PW, Mair DD, Edwards WD, Julsrud PR, Puga FJ: Pulmonary atresia and ventricular septal defect. Moss and Adams' Heart Disease in Infants, Children, and Adolescents. Allen HD, Gutgesell HP, Clark EB, Driscoll DJ (eds.). Lippincott Williams & Wilkins, Page: 864-879, 2001 Notes: Published in Philadelphia. (Chapter 41).

Goldmuntz E: Special section on genetics and epidemiology of tetralogy of Fallot. Tetralogy of Fallot: Moss and Adams' Heart Disease in Infants, Children, and Adolescents. Allen HD, Gutgesell HP, Clark EB, Driscoll DJ (eds.). Lippincott Williams & Wilkins, Page: 880-890, 2001 Notes: Published in Philadelphia. (Chapter 42, written by Zahka K, Siwiki E).

Goldmuntz E: The epidemiology and genetics of congenital heart disease. "Cardiovascular Disorders of the Neonate"  Wernovsky G, Rubenstein SD (eds.). W.B. Saunders, 28: 1-10, 2001 Notes: Part of Clinics in Perinatology.

Goldmuntz E: Special section on genetics and epidemiology of truncus arteriosus. Truncus arteriosus: Moss and Adams' Heart Disease in Infants, Children, and Adolescents. Allen HD, Gutgesell HP, Clark EB, Driscoll DJ (eds.). Lippincott Williams & Wilkins, Page: 910-923, 2001 Notes: Published in Philadelphia. (Chapter 43, Mair DD, Edwards WD, Julsrub PR, Seward JB, Danielson GK).

Goldmuntz E: Special section on genetics and epidemiology of congenital absence of the pulmonary valve. Congenital absence of the pulmonary valve: Moss and Adams' Heart Disease in Infants, Children, and Adolescents. Allen HD, Gutgesell HP, Clark EB, Driscoll DJ (eds.). Lippincott Williams & Wilkins, Page: 903-909, 2001 Notes: Published in Philadelphia. (Chapter 43, written by Gutgesell HP).

2000

Emanuel BS, Goldmuntz E, Budarf ML, Shaikh TS, McGrath J, McDonald-McGinn DM, Zackai EH, Driscoll DA, Mitchell L: Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions. Etiology and Morphogenesis of Congenital Heart Disease: Twenty years of scientific progress. Clark EB, Nakazawa M, Takao Atsuyoshi (eds.). Futura Publishing Company, Inc, Page: 335-340, 2000 Notes: Published in Armonk, NY. (Chapter 59).

Goldmuntz E: The molecular genetics of conotruncal defects. "The Molecular Genetics of Cardiac Electrophysiology": Developments in Cardiovascular Medicine. Berul CI, Towbin JA (eds.). Kluwer Academic Publishers, Page: 355-374, 2000.

1995

Driscoll DA, Goldmuntz E, Emanuel BS: Detection of 22q11 deletions in patients with conotruncal cardiac malformation, DiGeorge, velocardiofacial and conotruncal anomaly face syndrome. Developmental Mechanisms of Heart Disease. Clark EB, Markwald RR, Takao A (eds.). Futura Publishing Co, Page: 569-576, 1995 Notes: (Published in Armonk, NY).

1993

Emanuel BS, Driscoll DA, Goldmuntz E, Baldwin HS, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, and Budarf ML: Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions. Epstein, CJ (eds.). Wiley Liss, 384: 207-224, 1993 Notes: (Published in New York).

Posters and Presentations

Invited Lectures

2020

Goldmuntz E. "Genetics Influences of Outcome in TOF", Children's Hospital of Phila, 3401 Civic Center Blvd, Philadelphia, PA. Feb 2020.

Goldmuntz E. "Exercise and Quality of Life", Children's Hospital of Phila, 3401 Civic Center Blvd Philadelphia, PA. Feb 2020.

2019

Goldmuntz E. "Cardiac Manifestations of the 22q11.2 Deletion Syndrome and the Impact of Deletion Status on Clinical Cardiac Outcomes", NIH, Bethesda, MD. Apr 2019.

Goldmuntz E. "A Model: Factors Impacting Outcomes in TOF" at The Children's Hospital Cardiology Conference in Huntington Beach, CA. Feb 2019.

Goldmuntz E. "Genetic Testing for CHD: Time to Incorporate into Standard Clinical Care" Children's Hospital Cardiology Conference in Huntington Beach, CA. Feb 2019.