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Research & Innovation

About our research

The Congenital Diaphragmatic Hernia Center actively participates in ongoing research focused on the understanding and treatment of CDH to improve survival and quality of life.

Our areas of research

  • Cimbak N, Staffa SJ, Demehri FR, Hsi Dickie B, Zalieckas JM. Understanding the effect of prematurity on morbidity and survival in neonates with congenital diaphragmatic hernia. Published in Pediatric Surgery International.
  • Bick S, High FA, Gray K, Lyu J, Poorvu T, Donahoe PK, Zalieckas J, Buchmiller TL. Trends in prenatal genetic diagnosis for CDH: a 20 year single center retrospective review.
  • Nes E, Chugh PV, Keefe G, Culbreath K, Morrow KA, Ehret DEY, Soll RF, Horbar JD, Harting MT, Lally KP, Modi BP, Tom Jaksic T, Edwards EM. Predictors of mortality in very low birth weight neonates with congenital diaphragmatic hernia. JPS Feb 2024. J Pediatr Surg. 2024 May;59(5):818-824. doi: 10.1016/j.jpedsurg.2024.01.032. Epub 2024 Feb 1.
  • Cimbak N, Bedoya MA, Staffa S, Priest JR, Dickie BH, Zalieckas J, Demehri FR. “Mediastinal shift index: validation of a postnatal measurement of mediastinal movement that predicts survival in neonates with congenital diaphragmatic hernia on extracorporeal membrane oxygenation.” American Pediatric Surgical Association, Phoenix, AZ. May 2024.
  • Cimbak N, Staffa S, Dickie BH, Zalieckas J, Demehri FR. “Understanding the effect of prematurity on morbidity and survival in CDH neonates.” Congenital Diaphragmatic Hernia Symposium, Lille, France. May 2024.
  • Shieh HF, Barnewolt CE, Wilson JM, et al. Percent predicted lung volume changes on fetal magnetic resonance imaging throughout gestation in congenital diaphragmatic hernia. J Pediatr Surg. 2017;52(6):933-937. doi:10.1016/j.jpedsurg.2017.03.013
  • Dennett KV, Tracy S, Oliver Taylor L, Zurakowski D, Chen C. Prenatally-counseled congenital diaphragmatic hernia parents exhibit positive well-being before and after surgical repair. J Pediatr Surg. 2014;49(5):700-705. doi:10.1016/j.jpedsurg.2014.02.050
  • Stoffan AP, Wilson JM, Jennings RW, Wilkins-Haug LE, Buchmiller TL. Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change outcomes for high-risk patients with congenital diaphragmatic hernia?. J Pediatr Surg. 2012;47(6):1053-1057. doi:10.1016/j.jpedsurg.2012.03.004
  • Taylor GA, Atalabi OM, Estroff JA. Imaging of congenital diaphragmatic hernias. Pediatr Radiol. 2009;39(1):1-16. doi:10.1007/s00247-008-0917-7
  • Kunisaki SM, Barnewolt CE, Estroff JA, et al. Liver position is a prenatal predictive factor of prosthetic repair in congenital diaphragmatic hernia. Fetal Diagn Ther. 2008;23(4):258-262. doi:10.1159/000123611
  • Barnewolt CE, Kunisaki SM, Fauza DO, Nemes LP, Estroff JA, Jennings RW. Percent predicted lung volumes as measured on fetal magnetic resonance imaging: a useful biometric parameter for risk stratification in congenital diaphragmatic hernia. J Pediatr Surg. 2007;42(1):193-197. doi:10.1016/j.jpedsurg.2006.09.018
  • Kunisaki SM, Barnewolt CE, Estroff JA, et al. Ex utero intrapartum treatment with extracorporeal membrane oxygenation for severe congenital diaphragmatic hernia. J Pediatr Surg. 2007;42(1):98-106. doi:10.1016/j.jpedsurg.2006.09.009
  • Adzick NS, Vacanti JP, Lillehei CW, O'Rourke PP, Crone RK, Wilson JM. Fetal diaphragmatic hernia: ultrasound diagnosis and clinical outcome in 38 cases. J Pediatr Surg. 1989;24(7):654-658. doi:10.1016/s0022-3468(89)80713-4
  • Cimbak N, Perez JM, Akhondi-Asl A, Vitali SH, Mehta NM, Demehri FR, Hsi Dickie B, Zalieckas JM. Evaluating the epidemiology and regional variations in additional surgical interventions for children with congenital diaphragmatic hernia: a multi-institutional analysis. Presentation at Surgical Section of AAP. October 2023.
  • Gowda S, Nienaber T, Makkar A, Stark RA, Billimoria A, Guner Y, Church J, Zalieckas J, Weems M, Gray B, Perkins J, Buchmiller TL, Jancelewicz T, Harting MT on behalf of the CDHSG. Organization of Care - One size does not fit all: Comparing CDH team structure across children's hospitals in North America.
  • Cimbak N, Zalieckas JM, Staffa S, Lemire L, Janeczek J, Dickie BH, Demehri FR, Sheils CA, Visner G, Mullen M, Becker R, Studley M, and Buchmiller TL. "Disparities in healthcare utilization: An analysis of disease specific and patient level factors in a Congenital Diaphragmatic Hernia clinic." Journal of Pediatric Surgery. DOI: https://doi.org/10.1016/j.jpedsurg.2024.04.023.
  • Cimbak N., Perez JM, Akhondi-Asl A, Vitali S, Mehta, NM, Demehri F, Hsi Dickie, B, and Zalieckas JM. “Evaluating the epidemiology and regional variations in additional surgical interventions for children with congenital diaphragmatic hernia: a multi-institutional analysis.” American Academy of Pediatrics: Section of Surgery. Washington, DC. October 2023.
  • Gupta VS, Harting MT, Lally PA, et al. Mortality in Congenital Diaphragmatic Hernia: A Multicenter Registry Study of Over 5000 Patients Over 25 Years [published online ahead of print, 2021 Jul 29]. Ann Surg. 2021;10.1097/SLA.0000000000005113. doi:10.1097/SLA.0000000000005113
  • Kamran A, Zendejas B, Demehri FR, Nath B, Zurakowski D, Smithers CJ. Risk factors for recurrence after thoracoscopic repair of congenital diaphragmatic hernia (CDH). J Pediatr Surg. 2018;53(11):2087-2091. doi:10.1016/j.jpedsurg.2018.04.007
  • Harting MT, Hollinger L, Tsao K, et al. Aggressive Surgical Management of Congenital Diaphragmatic Hernia: Worth the Effort?: A Multicenter, Prospective, Cohort Study. Ann Surg. 2018;267(5):977-982. doi:10.1097/SLA.0000000000002144
  • Shieh HF, Wilson JM, Sheils CA, et al. Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change morbidity outcomes for high-risk congenital diaphragmatic hernia survivors?. J Pediatr Surg. 2017;52(1):22-25. doi:10.1016/j.jpedsurg.2016.10.010
  • Lally KP, Lasky RE, Lally PA, et al. Standardized reporting for congenital diaphragmatic hernia--an international consensus. J Pediatr Surg. 2013;48(12):2408-2415. doi:10.1016/j.jpedsurg.2013.08.014
  • Ben-Ishay O, Johnson VM, Wilson JM, Buchmiller TL. Congenital diaphragmatic hernia associated with esophageal atresia: incidence, outcomes, and determinants of mortality. J Am Coll Surg. 2013;216(1):90-95.e2. doi:10.1016/j.jamcollsurg.2012.09.014
  • Congenital Diaphragmatic Hernia Study Group, Lally KP, Lally PA, et al. Defect size determines survival in infants with congenital diaphragmatic hernia. Pediatrics. 2007;120(3):e651-e657. doi:10.1542/peds.2006-3040
  • Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 1, 2006.
  • Yang EY, Allmendinger N, Johnson SM, Chen C, Wilson JM, Fishman SJ. Neonatal thoracoscopic repair of congenital diaphragmatic hernia: selection criteria for successful outcome. J Pediatr Surg. 2005;40(9):1369-1375. doi:10.1016/j.jpedsurg.2005.05.036
  • Downard CD, Wilson JM. Current therapy of infants with congenital diaphragmatic hernia. Semin Neonatol. 2003;8(3):215-221. doi:10.1016/S1084-2756(03)00028-9
  • Downard CD, Jaksic T, Garza JJ, et al. Analysis of an improved survival rate for congenital diaphragmatic hernia. J Pediatr Surg. 2003;38(5):729-732. doi:10.1016/jpsu.2003.50194
  • Neville HL, Jaksic T, Wilson JM, et al. Bilateral congenital diaphragmatic hernia. J Pediatr Surg. 2003;38(3):522-524. doi:10.1053/jpsu.2003.50092
  • Muratore CS, Kharasch V, Lund DP, et al. Pulmonary morbidity in 100 survivors of congenital diaphragmatic hernia monitored in a multidisciplinary clinic. J Pediatr Surg. 2001;36(1):133-140. doi:10.1053/jpsu.2001.20031
  • Clark RH, Hardin WD Jr, Hirschl RB, et al. Current surgical management of congenital diaphragmatic hernia: a report from the Congenital Diaphragmatic Hernia Study Group. J Pediatr Surg. 1998;33(7):1004-1009. doi:10.1016/s0022-3468(98)90522-x
  • Reickert CA, Hirschl RB, Atkinson JB, et al. Congenital diaphragmatic hernia survival and use of extracorporeal life support at selected level III nurseries with multimodality support. Surgery. 1998;123(3):305-310.
  • Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. 1997;32(3):401-405. doi:10.1016/s0022-3468(97)90590-x
  • Nobuhara KK, Wilson JM. Pathophysiology of congenital diaphragmatic hernia. Semin Pediatr Surg. 1996;5(4):234-242.
  • Fauza DO, Wilson JM. Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis. J Pediatr Surg. 1994;29(8):1113-1117. doi:10.1016/0022-3468(94)90290-9
  • Wilson JM, Fauza DO, Lund DP, Benacerraf BR, Hendren WH. Antenatal diagnosis of isolated congenital diaphragmatic hernia is not an indicator of outcome. J Pediatr Surg. 1994;29(6):815-819. doi:10.1016/0022-3468(94)90378-6
  • Lally KP, Paranka MS, Roden J, et al. Congenital diaphragmatic hernia. Stabilization and repair on ECMO. Ann Surg. 1992;216(5):569-573. doi:10.1097/00000658-199211000-00008
  • Beals DA, Schloo BL, Vacanti JP, Reid LM, Wilson JM. Pulmonary growth and remodeling in infants with high-risk congenital diaphragmatic hernia. J Pediatr Surg. 1992;27(8):997-1002. doi:10.1016/0022-3468(92)90546-j
  • Adzick NS, Vacanti JP, Lillehei CW, O'Rourke PP, Crone RK, Wilson JM. Fetal diaphragmatic hernia: ultrasound diagnosis and clinical outcome in 38 cases. J Pediatr Surg. 1989;24(7):654-658. doi:10.1016/s0022-3468(89)80713-4
  • Cimbak N, Demehri FR, Zalieckas JM, Dickie BH. Role of therapeutic plasma exchange in management of hemolysis associated with extracorporeal membrane oxygenation in neonates with congenital diaphragmatic hernia: A case series. Journal of Pediatric Surgery Case Reports. 2024;110:102869. doi:10.1016/j.epsc.2024.102869.
  • Tella JB, Dao DT, Alexander ME, et al. Supraventricular Tachycardia in Infants With Congenital Diaphragmatic Hernia: Prevalence, Associations, and Outcomes. Pediatr Crit Care Med. 2022;23(7):e329-e337. doi:10.1097/PCC.0000000000002952
  • Dao DT, Burgos CM, Harting MT, et al. Surgical Repair of Congenital Diaphragmatic Hernia After Extracorporeal Membrane Oxygenation Cannulation: Early Repair Improves Survival. Ann Surg. 2021;274(1):186-194. doi:10.1097/SLA.0000000000003386
  • Cauley RP, Potanos K, Fullington N, et al. Pulmonary support on day of life 30 is a strong predictor of increased 1 and 5-year morbidity in survivors of congenital diaphragmatic hernia. J Pediatr Surg. 2015;50(5):849-855. doi:10.1016/j.jpedsurg.2014.12.007
  • Bairdain S, Betit P, Craig N, et al. Diverse Morbidity and Mortality Among Infants Treated with Venoarterial Extracorporeal Membrane Oxygenation. Cureus. 2015;7(4):e263. Published 2015 Apr 7. doi:10.7759/cureus.263
  • Cauley RP, Stoffan A, Potanos K, et al. Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia. J Pediatr Surg. 2013;48(6):1183-1189. doi:10.1016/j.jpedsurg.2013.03.012
  • Vitali SH, Arnold JH. Bench-to-bedside review: Ventilator strategies to reduce lung injury -- lessons from pediatric and neonatal intensive care. Crit Care. 2005;9(2):177-183. doi:10.1186/cc2987
  • Downard CD, Betit P, Chang RW, Garza JJ, Arnold JH, Wilson JM. Impact of AMICAR on hemorrhagic complications of ECMO: a ten-year review. J Pediatr Surg. 2003;38(8):1212-1216. doi:10.1016/s0022-3468(03)00270-7
  • Hirschl RB, Philip WF, Glick L, et al. A prospective, randomized pilot trial of perfluorocarbon-induced lung growth in newborns with congenital diaphragmatic hernia. J Pediatr Surg. 2003;38(3):283-289. doi:10.1053/jpsu.2003.50095
  • Fauza DO, Hirschl RB, Wilson JM. Continuous intrapulmonary distension with perfluorocarbon accelerates lung growth in infants with congenital diaphragmatic hernia: initial experience. J Pediatr Surg. 2001;36(8):1237-1240. doi:10.1053/jpsu.2001.25783
  • Schnitzer JJ, Thompson JE, Hedrick HL, Kaban JM, Wilson JM. High-frequency intratracheal pulmonary ventilation: improved gas exchange at lower airway pressures. J Pediatr Surg. 1997;32(2):203-206. doi:10.1016/s0022-3468(97)90179-2
  • Wilson JM, Bower LK, Thompson JE, Fauza DO, Fackler JC. ECMO in evolution: the impact of changing patient demographics and alternative therapies on ECMO. J Pediatr Surg. 1996;31(8):1116-1123. doi:10.1016/s0022-3468(96)90099-8
  • Wilson JM, Bower LK, Lund DP. Evolution of the technique of congenital diaphragmatic hernia repair on ECMO. J Pediatr Surg. 1994;29(8):1109-1112. doi:10.1016/0022-3468(94)90289-5
  • Wilson JM, Bower LK, Fackler JC, Beals DA, Bergus BO, Kevy SV. Aminocaproic acid decreases the incidence of intracranial hemorrhage and other hemorrhagic complications of ECMO. J Pediatr Surg. 1993;28(4):536-541. doi:10.1016/0022-3468(93)90612-o
  • Wilson JM, Thompson JR, Schnitzer JJ, et al. Intratracheal pulmonary ventilation and congenital diaphragmatic hernia: a report of two cases. J Pediatr Surg. 1993;28(3):484-487. doi:10.1016/0022-3468(93)90252-g
  • Wilson JM, Lund DP, Lillehei CW, O'Rourke PP, Vacanti JP. Delayed repair and preoperative ECMO does not improve survival in high-risk congenital diaphragmatic hernia. J Pediatr Surg. 1992;27(3):368-375. doi:10.1016/0022-3468(92)90863-3
  • Gupta VS, Holden KI, Chiu PP, Ramaraj AB, Miller CM, Popp EC, Bakir N, Stark RA, Buchmiller TL, Ebanks AH, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group. Recurrence in congenital diaphragmatic hernia: A multicenter, postdischarge pilot study. Surgery. 2025 May;181:109209. doi: 10.1016/j.surg.2025.109209. Epub 2025 Feb 19. PMID: 39978174.
  • Ulmer A, Studley M, Cimbak N, Staffa SJ, Lemire L, Zalieckas JM, Sheils CA, Visner G, Mullen M, Becker B, Hsi Dickie B, Demehri F, Buchmiller TL. Predictors of prolonged feeding tube use in congenital diaphragmatic hernia survivors.
  • Holden KI, Ebanks AH, Buchmiller TL, Lally KP, Harting MT on behalf of the CDHSG. Decreasing diaphragmatic hernia recurrence through the application of a patch overlay.
  • Liao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas Z, Buchmiller TL, Khlevner J, De A, Farkouh-Karoleski C, Wagner AJ, Heydweiller A, Mueller AC. de Klein A, Warner BW, Maj C, Chung D, McCulley DJ, Schindel D, Potoka D, Fialkowski E, Schulz F, Kipfmuller F, Lim FY, Magielsen F, Mychaliska GB, Aspelund G, Reutter HM, Needelman H, Schnater JM, Fisher JC, Azarow K, Elfiky M, Nöthen MM, Danko ME, Li M, Kosiński P, Wijnen RMH, Cusick RA, Soffer SZ, Cochius-Den Otter SC, Schaible T, Crombleholme T, Duron VP, Donahoe PK, Sun X, High FA, Bendixen C, Brosens E, Shen Y, Chung WK. Integrating de novo and common variants associated with congenital diaphragmatic hernia, a rare congenital anomaly
  • Cimbak N, Buchmiller Terry L. Long term follow-up of patients with congenital diaphragmatic hernia. Invited review. World J Pediatr Surg. 2024 Apr 9;7(2):e000758. doi: 10.1136/wjps-2023-000758. eCollection 2024.
  • Pollack JC, Hollinger LE, Buchmiller TL, Jancelewicz T. Long-term follow-up in congenital diaphragmatic hernia. Semin Pediatr Surg. 2024 Aug;33(4):151443. doi: 10.1016/j.sempedsurg.2024.151443. Epub 2024 Jul 2. PMID: 38972214.
  • Critser PJ, Buchmiller TL, Gauvreau K, Zalieckas JM, Sheils CA, Visner, GA, Shafer KM, Chen MH, Mullen MP. Exercise induced pulmonary hypertension in long term survivors of congenital diaphragmatic hernia. J Pediatr. 2024 Mar 27;271:114034. PMID: 38552948
  • Cimbak N, Buchmiller TL. Long-term follow-up of patients with congenital diaphragmatic hernia. World J Pediatr Surg. 2024 Apr 9;7(2):e000758. doi: 10.1136/wjps-2023-000758. PMID: 38618013; PMCID: PMC11015326.
  • Whitlock AE, Sheils CA, Zalieckas JM, et al. High altitude simulation testing in patients with congenital diaphragmatic hernia. J Pediatr Surg. 2022;57(2):195-198. doi:10.1016/j.jpedsurg.2021.10.044
  • Dao DT, Kamran A, Wilson JM, et al. Longitudinal Analysis of Ventilation Perfusion Mismatch in Congenital Diaphragmatic Hernia Survivors. J Pediatr. 2020;219:160-166.e2. doi:10.1016/j.jpeds.2019.09.053
  • Dao DT, Hayden LP, Buchmiller TL, et al. Longitudinal Analysis of Pulmonary Function in Survivors of Congenital Diaphragmatic Hernia. J Pediatr. 2020;216:158-164.e2. doi:10.1016/j.jpeds.2019.09.072
  • Hollinger LE, Buchmiller TL. Long term follow-up in congenital diaphragmatic hernia. Semin Perinatol. 2020;44(1):151171. doi:10.1053/j.semperi.2019.07.010
  • Bairdain S, Khan FA, Fisher J, et al. Nutritional outcomes in survivors of congenital diaphragmatic hernia (CDH)-factors associated with growth at one year. J Pediatr Surg. 2015;50(1):74-77. doi:10.1016/j.jpedsurg.2014.10.003
  • Tracy S, Chen C. Multidisciplinary long-term follow-up of congenital diaphragmatic hernia: a growing trend. Semin Fetal Neonatal Med. 2014;19(6):385-391. doi:10.1016/j.siny.2014.09.001
  • Dennett KV, Fligor BJ, Tracy S, Wilson JM, Zurakowski D, Chen C. Sensorineural hearing loss in congenital diaphragmatic hernia survivors is associated with postnatal management and not defect size. J Pediatr Surg. 2014;49(6):895-899. doi:10.1016/j.jpedsurg.2014.01.049
  • Friedman S, Chen C, Chapman JS, et al. Neurodevelopmental outcomes of congenital diaphragmatic hernia survivors followed in a multidisciplinary clinic at ages 1 and 3. J Pediatr Surg. 2008;43(6):1035-1043. doi:10.1016/j.jpedsurg.2008.02.029
  • Chen C, Friedman S, Butler S, et al. Approaches to neurodevelopmental assessment in congenital diaphragmatic hernia survivors. J Pediatr Surg. 2007;42(6):1052-1056. doi:10.1016/j.jpedsurg.2007.01.042
  • Chen C, Jeruss S, Terrin N, Tighiouart H, Wilson JM, Parsons SK. Impact on family of survivors of congenital diaphragmatic hernia repair: a pilot study. J Pediatr Surg. 2007;42(11):1845-1852. doi:10.1016/j.jpedsurg.2007.07.010
  • Hayward MJ, Kharasch V, Sheils C, et al. Predicting inadequate long-term lung development in children with congenital diaphragmatic hernia: an analysis of longitudinal changes in ventilation and perfusion. J Pediatr Surg. 2007;42(1):112-116. doi:10.1016/j.jpedsurg.2006.09.011
  • Chen C, Jeruss S, Chapman JS, et al. Long-term functional impact of congenital diaphragmatic hernia repair on children. J Pediatr Surg. 2007;42(4):657-665. doi:10.1016/j.jpedsurg.2006.12.013
  • West SD, Wilson JM. Follow up of infants with congenital diaphragmatic hernia. Semin Perinatol. 2005;29(2):129-133. doi:10.1053/j.semperi.2005.04.007
  • Muratore CS, Utter S, Jaksic T, Lund DP, Wilson JM. Nutritional morbidity in survivors of congenital diaphragmatic hernia. J Pediatr Surg. 2001;36(8):1171-1176. doi:10.1053/jpsu.2001.25746
  • Nobuhara KK, Lund DP, Mitchell J, Kharasch V, Wilson JM. Long-term outlook for survivors of congenital diaphragmatic hernia. Clin Perinatol. 1996;23(4):873-887.
  • Lund DP, Mitchell J, Kharasch V, Quigley S, Kuehn M, Wilson JM. Congenital diaphragmatic hernia: the hidden morbidity. J Pediatr Surg. 1994;29(2):258-264. doi:10.1016/0022-3468(94)90329-8
  • Pendelton KE, Hernandez-Garcia A, Lyu JM, Campbell IM, Shaw CA, Vogt J, High FA, Donahoe PK, Chung WK, Scott DA. FOXP1 haploinsufficiency contributes to the development of congenital diaphragmatic hernia. Journal of Pediatric Genetics, 2022 In Press.
  • Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibaek M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154.
  • Qiao L, Xu L, Yu L, et al. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021;108(10):1964-1980. doi:10.1016/j.ajhg.2021.08.011
  • Zhu Q, High FA, Zhang C, et al. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci U S A. 2018;115(20):5247-5252. doi:10.1073/pnas.1714885115
  • Zhu Q, High FA, Zhang C, et al. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci U S A. 2018;115(20):5247-5252. doi:10.1073/pnas.1714885115
  • Qi H, Yu L, Zhou X, et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018;14(12):e1007822. Published 2018 Dec 10. doi:10.1371/journal.pgen.1007822
  • Longoni M, High FA, Qi H, et al. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet. 2017;136(6):679-691. doi:10.1007/s00439-017-1774-y
  • Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol. 2016;186(10):2532-2543. doi:10.1016/j.ajpath.2016.07.006
  • High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. Am J Med Genet A. 2016;170(9):2457-2461. doi:10.1002/ajmg.a.37830
  • Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR and Donahoe PK. Prevalence and Penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin. Genet. 87(4):362-7, 2015.
  • Longoni M, High FA, Russell MK, et al. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A. 2014;111(34):12450-12455. doi:10.1073/pnas.1412509111
  • Kantarci S, Ackerman KG, Russell MK, et al. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 2010;152A(10):2493-2504. doi:10.1002/ajmg.a.33618
  • Pober BR, Lin A, Russell M, et al. Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A. 2005;138A(2):81-88. doi:10.1002/ajmg.a.30904
  • Neville HL, Jaksic T, Wilson JM, et al. Fryns syndrome in children with congenital diaphragmatic hernia. J Pediatr Surg. 2002;37(12):1685-1687. doi:10.1053/jpsu.2002.36695
  • Dao DT, Patel N, Harting MT, Lally KP, Lally PA, Buchmiller TL. Early Left Ventricular Dysfunction and Severe Pulmonary Hypertension Predict Adverse Outcomes in "Low-Risk" Congenital Diaphragmatic Hernia. Pediatr Crit Care Med. 2020;21(7):637-646. doi:10.1097/PCC.0000000000002318
  • Kinsella JP, Steinhorn RH, Mullen MP, et al. The Left Ventricle in Congenital Diaphragmatic Hernia: Implications for the Management of Pulmonary Hypertension. J Pediatr. 2018;197:17-22. doi:10.1016/j.jpeds.2018.02.040
  • Vogel M, McElhinney DB, Marcus E, Morash D, Jennings RW, Tworetzky W. Significance and outcome of left heart hypoplasia in fetal congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2010;35(3):310-317. doi:10.1002/uog.7497
  • Yu LJ, Ko VH, Dao DT, et al. Investigation of the mechanisms of VEGF-mediated compensatory lung growth: the role of the VEGF heparin-binding domain. Sci Rep. 2021;11(1):11827. Published 2021 Jun 4. doi:10.1038/s41598-021-91127-0
  • Ko VH, Yu LJ, Dao DT, et al. Roxadustat (FG-4592) accelerates pulmonary growth, development, and function in a compensatory lung growth model. Angiogenesis. 2020;23(4):637-649. doi:10.1007/s10456-020-09735-9
  • Dao DT, Nandivada P, Vuong JT, et al. Vascular endothelial growth factor accelerates compensatory lung growth by increasing the alveolar units. Pediatr Res. 2018;83(6):1182-1189. doi:10.1038/pr.2018.41
  • Dao DT, Anez-Bustillos L, Ourieff J, et al. Heparin impairs angiogenic signaling and compensatory lung growth after left pneumonectomy. Angiogenesis. 2018;21(4):837-848. doi:10.1007/s10456-018-9628-3
  • Ackerman KG, Vargas SO, Wilson JA, Jennings RW, Kozakewich HP, Pober BR. Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients. Pediatr Dev Pathol. 2012;15(4):265-274. doi:10.2350/11-05-1041-OA.1
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