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Items: 1 to 50 of 183

1.

Myeloablation followed by autologous stem cell transplantation normalises systemic sclerosis molecular signatures.

Assassi S, Wang X, Chen G, Goldmuntz E, Keyes-Elstein L, Ying J, Wallace PK, Turner J, Zheng WJ, Pascual V, Varga J, Hinchcliff ME, Bellocchi C, McSweeney P, Furst DE, Nash RA, Crofford LJ, Welch B, Pinckney A, Mayes MD, Sullivan KM.

Ann Rheum Dis. 2019 Aug 7. pii: annrheumdis-2019-215770. doi: 10.1136/annrheumdis-2019-215770. [Epub ahead of print]

PMID:
31391177
2.

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.

Sewda A, Agopian AJ, Goldmuntz E, Hakonarson H, Morrow BE, Taylor D, Mitchell LE; Pediatric Cardiac Genomics Consortium.

PLoS One. 2019 Jul 17;14(7):e0219926. doi: 10.1371/journal.pone.0219926. eCollection 2019.

3.

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E.

Birth Defects Res. 2019 Aug 1;111(13):888-905. doi: 10.1002/bdr2.1534. Epub 2019 Jun 20.

PMID:
31222980
4.

The association of elevated maternal genetic risk scores for hypertension, type 2 diabetes and obesity and having a child with a congenital heart defect.

Kaplinski M, Taylor D, Mitchell LE, Hammond DA, Goldmuntz E, Agopian AJ; Pediatric Cardiac Genomics Consortium.

PLoS One. 2019 May 29;14(5):e0216477. doi: 10.1371/journal.pone.0216477. eCollection 2019.

5.

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo 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.

Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.

6.

Short-term progression of interstitial lung disease in systemic sclerosis predicts long-term survival in two independent clinical trial cohorts.

Volkmann ER, Tashkin DP, Sim M, Li N, Goldmuntz E, Keyes-Elstein L, Pinckney A, Furst DE, Clements PJ, Khanna D, Steen V, Schraufnagel DE, Arami S, Hsu V, Roth MD, Elashoff RM, Sullivan KM; SLS I and SLS II study groups.

Ann Rheum Dis. 2019 Jan;78(1):122-130. doi: 10.1136/annrheumdis-2018-213708. Epub 2018 Nov 8.

7.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

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.

Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

8.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

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.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
9.

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Rayannavar A, Levitt Katz LE, Crowley TB, Lessig M, Grand K, Goldmuntz E, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2099-2103. doi: 10.1002/ajmg.a.40495. Epub 2018 Oct 1.

10.

Right Ventricular Contractile Reserve Is Impaired in Children and Adolescents With Repaired Tetralogy of Fallot: An Exercise Strain Imaging Study.

Bhatt SM, Wang Y, Elci OU, Goldmuntz E, McBride M, Paridon S, Mercer-Rosa L.

J Am Soc Echocardiogr. 2019 Jan;32(1):135-144. doi: 10.1016/j.echo.2018.08.008. Epub 2018 Sep 27.

PMID:
30269912
11.

Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography.

Bhatt SM, Elci OU, Wang Y, Goldmuntz E, McBride M, Paridon S, Mercer-Rosa L.

Pediatr Cardiol. 2019 Jan;40(1):71-78. doi: 10.1007/s00246-018-1962-0. Epub 2018 Aug 18.

PMID:
30121867
12.

Diastolic dysfunction in tetralogy of Fallot: Comparison of echocardiography with catheterization.

DiLorenzo M, Hwang WT, Goldmuntz E, Ky B, Mercer-Rosa L.

Echocardiography. 2018 Oct;35(10):1641-1648. doi: 10.1111/echo.14113. Epub 2018 Aug 13.

PMID:
30105757
13.

Pediatric Rheumatology Collaborative Study Group - over four decades of pivotal clinical drug research in pediatric rheumatology.

Brunner HI, Rider LG, Kingsbury DJ, Co D, Schneider R, Goldmuntz E, Onel KB, Giannini EH, Lovell DJ; PRCSG Advisory Council.

Pediatr Rheumatol Online J. 2018 Jul 11;16(1):45. doi: 10.1186/s12969-018-0261-x. Review.

14.

Perioperative Factors Influence the Long-Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot.

Mercer-Rosa L, Zhang X, Tanel RE, Rychik J, Fogel MA, Paridon SM, Goldmuntz E.

Pediatr Cardiol. 2018 Oct;39(7):1433-1439. doi: 10.1007/s00246-018-1913-9. Epub 2018 Jun 6.

PMID:
29876584
15.

Predictors of Length of Hospital Stay After Complete Repair for Tetralogy of Fallot: A Prospective Cohort Study.

Mercer-Rosa L, Elci OU, DeCost G, Woyciechowski S, Edman SM, Ravishankar C, Mascio CE, Kawut SM, Goldmuntz E.

J Am Heart Assoc. 2018 May 16;7(11). pii: e008719. doi: 10.1161/JAHA.118.008719.

16.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B.

Am J Med Genet A. 2018 Oct;176(10):2087-2098. doi: 10.1002/ajmg.a.38662. Epub 2018 Apr 16. Review.

17.

Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair.

DiLorenzo MP, Elci OU, Wang Y, Banerjee A, Sato T, Ky B, Goldmuntz E, Mercer-Rosa L.

J Am Soc Echocardiogr. 2018 Jul;31(7):816-821. doi: 10.1016/j.echo.2018.02.013. Epub 2018 Apr 4.

18.

Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic, and Magnetic Resonance Study.

Mercer-Rosa L, Fogel MA, Paridon SM, Rychik J, Yang W, Goldmuntz E.

JACC Cardiovasc Imaging. 2018 Oct;11(10):1547-1548. doi: 10.1016/j.jcmg.2018.01.008. Epub 2018 Mar 14. No abstract available.

PMID:
29550323
19.
20.

Autologous Stem-Cell Transplantation for Severe Scleroderma.

Sullivan KM, Goldmuntz EA, Furst DE.

N Engl J Med. 2018 Mar 15;378(11):1066-1067. doi: 10.1056/NEJMc1801275. No abstract available.

PMID:
29539292
21.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

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.

Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22.

22.

22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.

Mercer-Rosa L, Elci OU, Pinto NM, Tanel RE, Goldmuntz E.

Pediatr Cardiol. 2018 Jun;39(5):906-910. doi: 10.1007/s00246-018-1840-9. Epub 2018 Mar 8.

23.

Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study.

DiLorenzo MP, Goldmuntz E, Nicolson SC, Fogel MA, Mercer-Rosa L.

Cardiol Young. 2018 May;28(5):697-701. doi: 10.1017/S1047951118000045. Epub 2018 Feb 15.

24.

Robust identification of mosaic variants in congenital heart disease.

Manheimer KB, 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 WK, Seidman CE, Seidman JG, Gelb BD.

Hum Genet. 2018 Feb;137(2):183-193. doi: 10.1007/s00439-018-1871-6. Epub 2018 Feb 7.

25.

The Congenital Heart Disease Genetic Network Study: Cohort description.

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.

PLoS One. 2018 Jan 19;13(1):e0191319. doi: 10.1371/journal.pone.0191319. eCollection 2018.

26.

Myeloablative Autologous Stem-Cell Transplantation for Severe Scleroderma.

Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators.

N Engl J Med. 2018 Jan 4;378(1):35-47.

27.

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.

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; International 22q11.2 Consortium/Brain and Behavior Consortium*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690. doi: 10.1161/CIRCGENETICS.116.001690.

28.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

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.

Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9.

29.

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D.

J Allergy Clin Immunol Pract. 2018 Mar - Apr;6(2):690-691. doi: 10.1016/j.jaip.2017.08.028. Epub 2017 Sep 28. No abstract available.

PMID:
28964704
30.

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.

Bhatt SM, Goldmuntz E, Cassedy A, Marino BS, Mercer-Rosa L.

Pediatr Cardiol. 2017 Dec;38(8):1645-1653. doi: 10.1007/s00246-017-1709-3. Epub 2017 Aug 31.

31.

Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot.

Goldmuntz E, Cassedy A, Mercer-Rosa L, Fogel MA, Paridon SM, Marino BS.

J Pediatr. 2017 Oct;189:162-168. doi: 10.1016/j.jpeds.2017.06.049. Epub 2017 Jul 19.

PMID:
28734657
32.

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell LE; Pediatric Cardiac Genomics Consortium*.

Circ Cardiovasc Genet. 2017 Jun;10(3):e001449. doi: 10.1161/CIRCGENETICS.116.001449.

33.

Rare copy number variants in patients with congenital conotruncal heart defects.

Xie HM, Werner P, Stambolian D, Bailey-Wilson JE, Hakonarson H, White PS, Taylor DM, Goldmuntz E.

Birth Defects Res. 2017 Mar 1;109(4):271-295. doi: 10.1002/bdra.23609. Epub 2017 Feb 13.

34.

Longitudinal changes in adolescents with TOF: implications for care.

Bhat M, Mercer-Rosa L, Fogel MA, Harris MA, Paridon SM, McBride MG, Shults J, Zhang X, Goldmuntz E.

Eur Heart J Cardiovasc Imaging. 2017 Mar 1;18(3):356-363. doi: 10.1093/ehjci/jew272.

35.

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.

Anwar S, Harris MA, Whitehead KK, Keller MS, Goldmuntz E, Fogel MA, Mercer-Rosa L.

Pediatr Cardiol. 2017 Mar;38(3):617-623. doi: 10.1007/s00246-016-1558-5. Epub 2017 Jan 31.

PMID:
28144689
36.

Relationship Between Habitual Exercise and Performance on Cardiopulmonary Exercise Testing Differs Between Children With Single and Biventricular Circulations.

O'Byrne ML, Desai S, Lane M, McBride M, Paridon S, Goldmuntz E.

Pediatr Cardiol. 2017 Mar;38(3):472-483. doi: 10.1007/s00246-016-1537-x. Epub 2016 Nov 23.

37.

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.

Bhat M, Goldmuntz E, Fogel MA, Rychik J, Mercer-Rosa L.

Pediatr Cardiol. 2017 Feb;38(2):240-246. doi: 10.1007/s00246-016-1505-5. Epub 2016 Nov 11.

38.

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

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, Seidman JG.

Nat Commun. 2016 Sep 27;7:12824. doi: 10.1038/ncomms12824.

39.

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Ahrens-Nicklas RC, Khan S, Garbarini J, Woyciechowski S, D'Alessandro L, Zackai EH, Deardorff MA, Goldmuntz E.

Am J Med Genet A. 2016 Dec;170(12):3090-3097. doi: 10.1002/ajmg.a.37891. Epub 2016 Sep 8.

PMID:
27605484
40.

Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options.

Londono-Obregon C, Goldmuntz E, Davey BT, Zhang X, Slap GB, Kim YY.

Cardiol Young. 2017 May;27(4):671-676. doi: 10.1017/S1047951116001013. Epub 2016 Jul 7.

PMID:
27383541
41.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

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.

PLoS Genet. 2016 Feb 26;12(2):e1005821. doi: 10.1371/journal.pgen.1005821. eCollection 2016 Feb.

42.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

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.

Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396.

43.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

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.

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

44.

MESP1 Mutations in Patients with Congenital Heart Defects.

Werner P, Latney B, Deardorff MA, Goldmuntz E.

Hum Mutat. 2016 Mar;37(3):308-14. doi: 10.1002/humu.22947. Epub 2016 Jan 19.

45.

The Cardiovascular Effects of Obesity on Ventricular Function and Mass in Patients after Tetralogy of Fallot Repair.

Fogel MA, Pawlowski T, Keller MS, Cohen MS, Goldmuntz E, Diaz L, Li C, Whitehead KK, Harris MA.

J Pediatr. 2015 Aug;167(2):325-30.e1. doi: 10.1016/j.jpeds.2015.04.018. Epub 2015 May 29.

PMID:
26033368
46.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

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.

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

47.

Deficits in bone density and structure in children and young adults following Fontan palliation.

Avitabile CM, Goldberg DJ, Zemel BS, Brodsky JL, Dodds K, Hayden-Rush C, Whitehead KK, Goldmuntz E, Rychik J, Leonard MB.

Bone. 2015 Aug;77:12-6. doi: 10.1016/j.bone.2015.04.012. Epub 2015 Apr 14.

48.

Randomized, Double-Blind, Placebo-Controlled Trial of the Effect of Vitamin D3 on the Interferon Signature in Patients With Systemic Lupus Erythematosus.

Aranow C, Kamen DL, Dall'Era M, Massarotti EM, Mackay MC, Koumpouras F, Coca A, Chatham WW, Clowse ME, Criscione-Schreiber LG, Callahan S, Goldmuntz EA, Keyes-Elstein L, Oswald M, Gregersen PK, Diamond B.

Arthritis Rheumatol. 2015 Jul;67(7):1848-57. doi: 10.1002/art.39108.

49.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.

Am J Hum Genet. 2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.

50.

22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.

Mercer-Rosa L, Paridon SM, Fogel MA, Rychik J, Tanel RE, Zhao H, Zhang X, Yang W, Shults J, Goldmuntz E.

Circ Cardiovasc Genet. 2015 Feb;8(1):74-81. doi: 10.1161/CIRCGENETICS.114.000819. Epub 2015 Jan 5.

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