DHREAMS - Diaphragmatic Hernia Research & Exploration Advancing Molecular Science
About CDH
CDH

Publications

Please find an abridged list of publications* from researchers at Columbia University Medical Center on Congenital Diaphragmatic Hernia. Please click on the title of the article to access the abstract. Contact our research study coordinator, Becca Hernan, with any questions.


DHREAMS Study
Complications of CDH
Surgical repair of CDH
ECMO and CDH
Pulmonary complications of CDH
Animal Studies of CDH
Prenatal diagnosis of CDH


DHREAMS Study

Genetic causes of congenital diaphragmatic hernia.
Wynn J, Yu L, Chung WK.
Semin Fetal Neonatal Med. 2014 Dec;19(6):324-330. doi: 10.1016/j.siny.2014.09.003. Epub 2014 Oct 28.
The association between congenital diaphragmatic hernia and undescended testes.
Azarow KS, Cusick R, Wynn J, Chung W, Mychaliska GB, Crombleholme TM, Chung DH, Lim FY, Potoka D, Warner BW, Aspelund G, Arkovitz MS.
J Pediatr Surg. 2015 May;50(5):744-5.
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu L, Sawle AD, Wynn J, Aspelund G, Stolar CJ, Arkovitz MS, Potoka D, Azarow KS, Mychaliska GB, Shen Y, Chung WK.
Hum Mol Genet. 2015 Aug 15;24(16):4764-73.
A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice
Tuzovic L, Yu L, Zeng W3, Li X, Lu H, Lu HM, Gonzalez KD, Chung WK.
Rare Dis. 2013 Aug 14;1:e26144. doi: 10.4161/rdis.26144. eCollection 2013.
Predictors of low weight and tube feedings in children with congenital diaphragmatic hernia at 1 year of age
Pierog A, Aspelund G, Farkouh-Karoleski C, Wu M, Kriger J, Wynn J, Krishnan U, Mencin A.
J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):527-30. doi: 10.1097/MPG.0000000000000454.
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.
Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK.
Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9.
De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.
J Med Genet. 2012 Oct;49(10):650-9. doi: 10.1136/jmedgenet-2012-101135.
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L1, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics, Mefford H, Chung WK.
J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2.
Outcomes of Congenital Diaphragmatic Hernia in the Modern Era of Management.
Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ, Hahn E, Pietsch J, Chung D, Moore D, Austin E, Mychaliska G, Gajarski R, Foong YL, Michelfelder E, Potolka D, Bucher B, Warner B, Grady M, Azarow K, Fletcher SE, Kutty S, Delaney J, Crombleholme T, Rosenzweig E, Chung W, Arkovitz MS.
J Pediatr. 2013 Jan 30. pii: S0022-3476(12)01525-9. doi: 10.1016/j.jpeds.2012.12.036. [Epub ahead of print]
Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study.
Wynn J1, Aspelund G, Zygmunt A, Stolar CJ, Mychaliska G, Butcher J, Lim FY, Gratton T, Potoka D, Brennan K, Azarow K, Jackson B, Needelman H, Crombleholme T, Zhang Y, Duong J, Arkovitz MS, Chung WK, Farkouh C.
J Pediatr Surg. 2013 Oct;48(10):1995-2004. doi: 10.1016/j.jpedsurg.2013.02.041.


Complications of CDH

Multivariate model for predicting recurrence in congenital diaphragmatic hernia
Fisher JC, Haley MJ, Ruiz-Elizalde A, Stolar CJ, Arkovitz MS
J Pediatr Surg. 2009 Jun;44(6):1173-9; discussion 1179-80
De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS, Chung WK.
J Med Genet. 2012 Oct;49(10):650-9
Redefining outcomes in right congenital diaphragmatic hernia
Fisher JC, Jefferson RA, Arkovitz MS, Stolar CJ
J Pediatr Surg. 2008 Feb;43(2):373-9
Newborns with diaphragmatic hernia: initial chest radiography does not have a role in predicting clinical outcome
Holt PD, Arkovitz MS, Berdon WE, Stolar CJ
Pediatr Radiol. 2004 Jun;34(6):462-4. Epub 2004 Mar 23
Recurrent diaphragmatic hernia
Rowe DH, Stolar CJ
Semin Pediatr Surg. 2003 May;12(2):107-9. Review
Midgut malfixation in patients with congenital diaphragmatic hernia: what is the risk of midgut volvulus?
Levin TL, Liebling MS, Ruzal-Shapiro C, Berdon WE, Stolar CJ
Pediatr Radiol. 1995;25(4):259-61
What do survivors of congenital diaphragmatic hernia look like when they grow up?
Stolar CJ
Semin Pediatr Surg. 1996 Nov;5(4):275-9. Review


Surgical repair of CDH

Contemporary management of congenital diaphragmatic hernia
Butler MW, Stolar CJ, Altman RP
World J Surg. 1993 May-Jun;17(3):350-5. Review
Congenital diaphragmatic hernia: survival treated with very delayed surgery, spontaneous respiration, and no chest tube
Wung JT, Sahni R, Moffitt ST, Lipsitz E, Stolar CJ
J Pediatr Surg. 1995 Mar;30(3):406-9
Preoperative cardiorespiratory trends in infants with congenital diaphragmatic hernia
Moffitt ST, Schulze KF, Sahni R, Wung JT, Myers MM, Stolar CJ
ediatr Surg. 1995 Apr;30(4):604-11


ECMO and CDH

Challenges to cannulation for extracorporeal support in neonates with right-sided congenital diaphragmatic hernia
Fisher JC, Jefferson RA, Kuenzler KA, Stolar CJ, Arkovitz MS
J Pediatr Surg. 2007 Dec;42(12):2123-8. Review
Newborn surgical emergencies. Congenital diaphragmatic hernia and extracorporeal membrane oxygenation
Weinstein S, Stolar CJ
Pediatr Clin North Am. 1993 Dec;40(6):1315-33. Review
Congenital diaphragmatic hernia, extracorporeal membrane oxygenation, and death: a spectrum of etiologies
Price MR, Galantowicz ME, Stolar CJ
J Pediatr Surg. 1991 Sep;26(9):1023-6; discussion 1026-7


Pulmonary complications of CDH

Pulmonary arterial hypertension in children: a medical update
Rosenzweig EB, Barst RJ
Curr Opin Pediatr. 2008 Jun;20(3):288-93. Review
Lung function in infants after repair of congenital diaphragmatic hernia
Koumbourlis AC, Wung JT, Stolar CJ
J Pediatr Surg. 2006 Oct;41(10):1716-21
Fetal breathing characteristics and postnatal outcome in cases of congenital diaphragmatic hernia
Badalian SS, Fox HE, Chao CR, Timor-Tritsch IE, Stolar CJ
Am J Obstet Gynecol. 1994 Oct;171(4):970-6
Fetal upper respiratory tract function in cases of antenatally diagnosed congenital diaphragmatic hernia: preliminary observations
Fox HE, Badalian SS, Timor-Tritsch IE, Marks F, Stolar CJ
Ultrasound Obstet Gynecol. 1993 May 1;3(3):164-7


Animal Studies of CDH

Lung development is not necessary for diaphragm development in mice
Arkovitz MS, Hyatt BA, Shannon JM
J Pediatr Surg. 2005 Sep;40(9):1390-4


Prenatal diagnosis of CDH

Fetal lung-head ratio is not related to outcome for antenatal diagnosed congenital diaphragmatic hernia
Arkovitz MS, Russo M, Devine P, Budhorick N, Stolar CJ
J Pediatr Surg. 2007 Jan;42(1):107-10; discussion 110-1
Antenatal diagnosis of congenital diaphragmatic hernia
Graham G, Devine PC
Semin Perinatol. 2005 Apr;29(2):69-76. Review


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