Brueckner Lab Publications

• Endocardial primary cilia and blood flow regulate EndoMT during endocardial cushion development.Berg K, Gorham J, Lundt F, Seidman J, Brueckner M. Nat Cardiovasc Res. 2025 Sep; 2025 Aug 26. PMID: 40858839.
• Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.Suresh A, Morton SU, Quiat D, DePalma SR, Gorham JM, Brueckner M, Tristani-Firouzi M, Gelb BD, Seidman JG, Seidman CE. BMC Med Genomics. 2025 Jul 25; 2025 Jul 25. PMID: 40713712.
• Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.Watkins WS, Hernandez EJ, Miller TA, Blue NR, Zimmerman RM, Griffiths ER, Frise E, Bernstein D, Boskovski MT, Brueckner M, Chung WK, Gaynor JW, Gelb BD, Goldmuntz E, Gruber PJ, Newburger JW, Roberts AE, Morton SU, Mayer JE Jr, Seidman CE, Seidman JG, Shen Y, Wagner M, Yost HJ, Yandell M, Tristani-Firouzi M. Nat Commun. 2025 Jul 10; 2025 Jul 10. PMID: 40640177.
• Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Sierant MC, Jin SC, Bilguvar K, Morton SU, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Sedore SC, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter GA Jr, Newburger JW, Seidman JG, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Chung WK, Gelb BD, Seidman CE, Brueckner M, Lifton RP. Proc Natl Acad Sci U S A. 2025 Apr; 2025 Mar 24. PMID: 40127276.
• Recessive genetic contribution to congenital heart disease in 5,424 probands.Dong W, Jin SC, Sierant MC, Lu Z, Li B, Lu Q, Morton SU, Zhang J, López-Giráldez F, Nelson-Williams C, Knight JR, Zhao H, Cao J, Mane S, Gruber PJ, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor JW, Cnota JF, Wagner M, Srivastava D, Bernstein D, Porter GA Jr, Newburger J, Roberts AE, Yandell M, Yost HJ, Tristani-Firouzi M, Kim R, Seidman J, Chung WK, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Proc Natl Acad Sci U S A. 2025 Mar 11; 2025 Mar 3. PMID: 40030011.
• Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.Ward T, Morton SU, Venturini G, Tai W, Jang MY, Gorham J, Delaughter D, Wasson LK, Khazal Z, Homsy J, Gelb BD, Chung WK, Bruneau BG, Brueckner M, Tristani-Firouzi M, DePalma SR, Seidman C, Seidman JG. J Am Heart Assoc. 2025 Mar 4; 2025 Mar 3. PMID: 40028843.
• Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.Mondragon-Estrada E, Newburger JW, DePalma SR, Brueckner M, Cleveland J, Chung WK, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, McQuillen P, Miller TA, Panigrahy A, Porter GA Jr, Roberts AE, Rollins CK, Russell MW, Tristani-Firouzi M, Grant PE, Im K, Morton SU. iScience. 2025 Feb 21; 2024 Dec 28. PMID: 39877905.
• De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE, Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Am J Hum Genet. 2024 Apr 4; 2024 Mar 12. PMID: 38479391.
• Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2024 Mar 19; 2024 Mar 11. PMID: 38466853.
• Association of genetic and sulcal traits with executive function in congenital heart disease.Maleyeff L, Newburger JW, Wypij D, Thomas NH, Anagnoustou E, Brueckner M, Chung WK, Cleveland J, Cunningham S, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, King E, McQuillen P, Miller TA, Norris-Brilliant A, Porter GA Jr, Roberts AE, Grant PE, Im K, Morton SU. Ann Clin Transl Neurol. 2024 Feb; 2023 Nov 27. PMID: 38009418.
• SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW. Int J Mol Sci. 2023 Dec 28; 2023 Dec 28. PMID: 38203602.
• The H2Bub1-deposition complex is required for human and mouse cardiogenesis.Barish S, Berg K, Drozd J, Berglund-Brown I, Khizir L, Wasson LK, Seidman CE, Seidman JG, Chen S, Brueckner M. Development. 2023 Dec 1; 2023 Dec 1. PMID: 38038666.
• Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK. Physiol Genomics. 2023 Dec 1; 2023 Oct 9. PMID: 37811720.
• Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Circ Genom Precis Med. 2023 Jun; 2023 May 11. PMID: 37165897.
• Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Proc Natl Acad Sci U S A. 2023 Apr 18; 2023 Apr 12. PMID: 37043537.
• Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK. Circ Genom Precis Med. 2023 Apr; 2023 Mar 3. PMID: 36866680.
• Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Circ Genom Precis Med. 2023 Apr; 2023 Feb 21. PMID: 36803080.
• Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.Li Y, Xu W, Makova S, Brueckner M, Sun Z. Elife. 2023 Mar 15; 2023 Mar 15. PMID: 36920028.
• Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry.Djenoune L, Mahamdeh M, Truong TV, Nguyen CT, Fraser SE, Brueckner M, Howard J, Yuan S. Science. 2023 Jan 6; 2023 Jan 5. PMID: 36603098.
• Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.Morton SU, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller TA, Thomas NH, Liu C, Adams HR, Bellinger DC, Cleveland J, Cnota JF, Dale AM, Frommelt M, Gelb BD, Grant PE, Goldberg CS, Huang H, Kuperman JM, Li JS, McQuillen PS, Panigrahy A, Porter GA Jr, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Anagnoustou E, Hagler DJ Jr, Chung WK, Newburger JW. JAMA Netw Open. 2023 Jan 3; 2023 Jan 3. PMID: 36701153.
• Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. PLoS Genet. 2022 Jun; 2022 Jun 7. PMID: 35671298.
• Quantifying concordant genetic effects of de novo mutations on multiple disorders.Guo H, Hou L, Shi Y, Jin SC, Zeng X, Li B, Lifton RP, Brueckner M, Zhao H, Lu Q. Elife. 2022 Jun 6; 2022 Jun 6. PMID: 35666111.
• Mutation spectrum of congenital heart disease in a consanguineous Turkish population.Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan-Sencicek AG, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mol Genet Genomic Med. 2022 Jun; 2022 Apr 28. PMID: 35481623.
• Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Am J Hum Genet. 2022 May 5; 2022 Apr 8. PMID: 35397206.
• Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Circ Genom Precis Med. 2022 Apr; 2022 Feb 7. PMID: 35130025.
• A change of heart: new roles for cilia in cardiac development and disease.Djenoune L, Berg K, Brueckner M, Yuan S. Nat Rev Cardiol. 2022 Apr; 2021 Dec 3. PMID: 34862511.
• Molecular Genetics and Complex Inheritance of Congenital Heart Disease.Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Genes (Basel). 2021 Jun 30; 2021 Jun 30. PMID: 34209044.
• Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.Li M, Zeng X, Jin C, Jin SC, Dong W, Brueckner M, Lifton R, Lu Q, Zhao H. Quant Biol. 2021 Jun. PMID: 35414959.
• Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Circ Res. 2021 Apr 16; 2021 Feb 9. PMID: 33557580.
• Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. JAMA Cardiol. 2021 Apr 1. PMID: 33084842.
• De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA Jr, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE Jr, Newburger JW, Seidman CE. Circ Genom Precis Med. 2020 Aug; 2020 Jun 30. PMID: 32812804.
• Genomic analyses implicate noncoding de novo variants in congenital heart disease.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 D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Nat Genet. 2020 Aug; 2020 Jun 29. PMID: 32601476.
• EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.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. Genome Med. 2020 Apr 29; 2020 Apr 29. PMID: 32349777.
• De novo damaging variants associated with congenital heart diseases contribute to the connectome.Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. Sci Rep. 2020 Apr 27; 2020 Apr 27. PMID: 32341405.
• Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.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 AE, Newburger JW, Goldmuntz E, Brueckner M, Lifton RP, Seidman CE, Chung WK, Tristani-Firouzi M, Yost HJ, Ma'ayan A, Gelb BD. JACC Basic Transl Sci. 2020 Apr; 2020 Apr 8. PMID: 32368696.
• De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.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 Y, Yost HJ, Yandell M, Tristani-Firouzi M. Nat Commun. 2019 Oct 17; 2019 Oct 17. PMID: 31624253.
• Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Proc Natl Acad Sci U S A. 2019 Jul 9; 2019 Jun 24. PMID: 31235600.
• 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; 2018 Mar 22. PMID: 29527824.
• NUP98 Sets the Size-Exclusion Diffusion Limit through the Ciliary Base.Endicott SJ, Brueckner M. Curr Biol. 2018 May 21; 2018 May 3. PMID: 29731308.
• Left-Right Asymmetry: Myosin 1D at the Center.Yuan S, Brueckner M. Curr Biol. 2018 May 7. PMID: 29738734.
• 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; 2018 Feb 7. PMID: 29417219.
• 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; 2018 Jan 19. PMID: 29351346.
• 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; 2017 Oct 9. PMID: 28991257.
• The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.Simmons MA, Brueckner M. Curr Opin Pediatr. 2017 Oct. PMID: 28872494.
• Genetics and Genomics of Congenital Heart Disease.Zaidi S, Brueckner M. Circ Res. 2017 Mar 17. PMID: 28302740.
• 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; 2016 Sep 27. PMID: 27670201.
• DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H. Am J Respir Cell Mol Biol. 2016 Aug. PMID: 26909801.
• Visualization and Manipulation of Cilia and Intraciliary Calcium in the Zebrafish Left-Right Organizer.Yuan S, Brueckner M. Methods Mol Biol. 2016. PMID: 27514920.
• 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. PMID: 26785492.
• The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry.Endicott SJ, Basu B, Khokha M, Brueckner M. Development. 2015 Dec 1; 2015 Oct 22. PMID: 26493400.
• Intraciliary calcium oscillations initiate vertebrate left-right asymmetry.Yuan S, Zhao L, Brueckner M, Sun Z. Curr Biol. 2015 Mar 2; 2015 Feb 5. PMID: 25660539.
• Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, 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 J, Hakonarson H, Chung WK. Circ Res. 2014 Oct 24; 2014 Sep 9. PMID: 25205790.
• CANOES: detecting rare copy number variants from whole exome sequencing data.Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y. Nucleic Acids Res. 2014 Jul; 2014 Apr 25. PMID: 24771342.
• The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK. Nature. 2013 Dec 19; 2013 Nov 13. PMID: 24226769.
• De novo mutations in histone-modifying genes in congenital heart disease.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 MJ, 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 AE, 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. Nature. 2013 Jun 13; 2013 May 12. PMID: 23665959.
• Congenital heart disease: emerging themes linking genetics and development.Yuan S, Zaidi S, Brueckner M. Curr Opin Genet Dev. 2013 Jun; 2013 Jun 20. PMID: 23790954.
• Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Proc Natl Acad Sci U S A. 2011 Feb 15; 2011 Jan 31. PMID: 21282601.
• Fibroblast "cilia growth" factor in the development of left-right asymmetry.Basu B, Brueckner M. Dev Cell. 2009 Apr. PMID: 19386257.
• Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis.Slough J, Cooney L, Brueckner M. Dev Dyn. 2008 Sep. PMID: 18729223.
• Microvillus inclusion disease associated with coarctation of the aorta and bicuspid aortic valve.Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. J Clin Gastroenterol. 2008 Apr. PMID: 18277898.
• Cilia multifunctional organelles at the center of vertebrate left-right asymmetry.Basu B, Brueckner M. Curr Top Dev Biol. 2008. PMID: 19147005.
• Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia.Tashjian DB, Weeks B, Brueckner M, Touloukian RJ. J Pediatr Surg. 2007 Mar. PMID: 17336193.
• Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Development. 2005 Oct. PMID: 16155214.
• A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels.Hallaq H, Pinter E, Enciso J, McGrath J, Zeiss C, Brueckner M, Madri J, Jacobs HC, Wilson CM, Vasavada H, Jiang X, Bogue CW. Development. 2004 Oct. PMID: 15459110.
• What comes first: the structure or the egg? Ross Granville Harrison on the origin of embryonic polarity.Brueckner M. J Exp Zool A Comp Exp Biol. 2004 Jul 1. PMID: 15229864.
• Cilia are at the heart of vertebrate left-right asymmetry.McGrath J, Brueckner M. Curr Opin Genet Dev. 2003 Aug. PMID: 12888012.
• Two populations of node monocilia initiate left-right asymmetry in the mouse.McGrath J, Somlo S, Makova S, Tian X, Brueckner M. Cell. 2003 Jul 11. PMID: 12859898.
• Cilia propel the embryo in the right direction.Brueckner M. Am J Med Genet. 2001 Jul 15. PMID: 11471157.
• Of mice and men: dissecting the genetic pathway that controls left-right asymmetry in mice and humans.Schneider H, Brueckner M. Am J Med Genet. 2000 Winter. PMID: 11376437.
• GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. Am J Med Genet. 1999 Mar 19. PMID: 10096597.
• The genetics of left-right development and heterotaxia.Bowers PN, Brueckner M, Yost HJ. Semin Perinatol. 1996 Dec. PMID: 9090782.
• Isolation of murine telomere-proximal sequences by affinity capture and PCR.Rounds D, Brueckner M, Ward DC. Genomics. 1995 Oct 10. PMID: 8575753.
• Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management.Chang J, Brueckner M, Touloukian RJ. J Pediatr Surg. 1993 Oct. PMID: 8263687.
• Genetic aspects of heart disease in the newborn.Bulbul ZR, Rosenthal D, Brueckner M. Semin Perinatol. 1993 Apr. PMID: 8327904.
• Neonatal correction of transposition of the great arteries: the Connecticut experience.Dewar ML, Kleinman C, Hellenbrand W, Fahey J, Talner N, Brueckner M, Kopf GS. Conn Med. 1992 Dec. PMID: 1288934.
• Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse.McGrath J, Horwich AL, Brueckner M. Genomics. 1992 Nov. PMID: 1427890.
• Establishment of left-right asymmetry in vertebrates: genetically distinct steps are involved.Brueckner M, McGrath J, D'Eustachio P, Horwich AL. Ciba Found Symp. 1991. PMID: 1802643.
• Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera.Brueckner M, D'Eustachio P, Horwich AL. Proc Natl Acad Sci U S A. 1989 Jul. PMID: 2740340.