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Items: 1 to 50 of 69

1.

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;10(1):4722. doi: 10.1038/s41467-019-12582-y.

PMID:
31624253
2.

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;116(28):14049-14054. doi: 10.1073/pnas.1808341116. Epub 2019 Jun 24.

PMID:
31235600
3.

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine.

Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Review. Erratum in: Circulation. 2018 Nov 20;138(21):e713.

PMID:
30571578
4.

Performance of different clinical trial designs to evaluate treatments during an epidemic.

Brueckner M, Titman A, Jaki T, Rojek A, Horby P.

PLoS One. 2018 Sep 11;13(9):e0203387. doi: 10.1371/journal.pone.0203387. eCollection 2018.

5.

Hydration mechanism of a calcium phosphate cement modified with phytic acid.

Hurle K, Weichhold J, Brueckner M, Gbureck U, Brueckner T, Goetz-Neunhoeffer F.

Acta Biomater. 2018 Oct 15;80:378-389. doi: 10.1016/j.actbio.2018.09.002. Epub 2018 Sep 6.

PMID:
30195085
6.

Instrumental variable estimation in semi-parametric additive hazards models.

Brueckner M, Titman A, Jaki T.

Biometrics. 2019 Mar;75(1):110-120. doi: 10.1111/biom.12952. Epub 2018 Aug 2.

PMID:
30073669
7.

Left-Right Asymmetry: Myosin 1D at the Center.

Yuan S, Brueckner M.

Curr Biol. 2018 May 7;28(9):R567-R569. doi: 10.1016/j.cub.2018.03.019.

8.

NUP98 Sets the Size-Exclusion Diffusion Limit through the Ciliary Base.

Endicott SJ, Brueckner M.

Curr Biol. 2018 May 21;28(10):1643-1650.e3. doi: 10.1016/j.cub.2018.04.014. Epub 2018 May 3.

9.

Cellular interaction of a layer-by-layer based drug delivery system depending on material properties and cell types.

Brueckner M, Jankuhn S, Jülke EM, Reibetanz U.

Int J Nanomedicine. 2018 Apr 5;13:2079-2091. doi: 10.2147/IJN.S153701. eCollection 2018.

10.

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.

11.

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.

12.

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.

13.

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.

14.
15.

Genetics and Genomics of Congenital Heart Disease.

Zaidi S, Brueckner M.

Circ Res. 2017 Mar 17;120(6):923-940. doi: 10.1161/CIRCRESAHA.116.309140. Review.

16.

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.

17.

Visualization and Manipulation of Cilia and Intraciliary Calcium in the Zebrafish Left-Right Organizer.

Yuan S, Brueckner M.

Methods Mol Biol. 2016;1454:123-47. doi: 10.1007/978-1-4939-3789-9_9.

PMID:
27514920
18.

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;55(2):213-24. doi: 10.1165/rcmb.2015-0353OC.

19.

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.

20.

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;142(23):4068-79. doi: 10.1242/dev.126953. Epub 2015 Oct 22.

21.

Intraciliary calcium oscillations initiate vertebrate left-right asymmetry.

Yuan S, Zhao L, Brueckner M, Sun Z.

Curr Biol. 2015 Mar 2;25(5):556-67. doi: 10.1016/j.cub.2014.12.051. Epub 2015 Feb 5.

22.

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;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

23.

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;42(12):e97. doi: 10.1093/nar/gku345. Epub 2014 Apr 25.

24.

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;504(7480):456-9. doi: 10.1038/nature12723. Epub 2013 Nov 13.

25.

Congenital heart disease: emerging themes linking genetics and development.

Yuan S, Zaidi S, Brueckner M.

Curr Opin Genet Dev. 2013 Jun;23(3):352-9. doi: 10.1016/j.gde.2013.05.004. Epub 2013 Jun 20. Review.

26.

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;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12.

27.

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

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.

Circ Res. 2013 Feb 15;112(4):698-706. doi: 10.1161/CIRCRESAHA.111.300297.

28.

Impact of genetic diagnosis on clinical management of patients with congenital heart disease: cilia point the way.

Brueckner M.

Circulation. 2012 May 8;125(18):2178-80. doi: 10.1161/CIRCULATIONAHA.112.103861. Epub 2012 Apr 12. No abstract available.

29.

RFX2 is essential in the ciliated organ of asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow.

Bisgrove BW, Makova S, Yost HJ, Brueckner M.

Dev Biol. 2012 Mar 1;363(1):166-78. doi: 10.1016/j.ydbio.2011.12.030. Epub 2011 Dec 29.

30.

Proliferation, apoptosis and expression of non-collagenous proteins: differences between the upper and the lower jaw bone in vitro.

Graf HL, Brueckner M, Troeger U, Hilbig H.

Cells Tissues Organs. 2012;195(3):244-51. doi: 10.1159/000325156. Epub 2011 Apr 14.

PMID:
21494024
31.

Prognostic performance of low-dose coronary CT angiography with prospective ECG triggering.

Buechel RR, Pazhenkottil AP, Herzog BA, Brueckner M, Nkoulou R, Ghadri JR, Küest SM, Wyss CA, Husmann L, Kaufmann PA.

Heart. 2011 Sep;97(17):1385-90. doi: 10.1136/hrt.2010.217638. Epub 2011 Apr 12.

PMID:
21487129
32.

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;108(7):2915-20. doi: 10.1073/pnas.1019645108. Epub 2011 Jan 31.

33.

Nuclear myocardial perfusion imaging with a cadmium-zinc-telluride detector technique: optimized protocol for scan time reduction.

Herzog BA, Buechel RR, Katz R, Brueckner M, Husmann L, Burger IA, Pazhenkottil AP, Valenta I, Gaemperli O, Treyer V, Kaufmann PA.

J Nucl Med. 2010 Jan;51(1):46-51. doi: 10.2967/jnumed.109.065532. Epub 2009 Dec 15.

34.

Renal impairment resulting from hypothyroidism-or impaired estimated glomerular filtration rate in a patient with hypothyroidsm.

Brueckner D, Brueckner MM.

NDT Plus. 2009 Jun;2(3):262-3. doi: 10.1093/ndtplus/sfp021. No abstract available.

35.

Fibroblast "cilia growth" factor in the development of left-right asymmetry.

Basu B, Brueckner M.

Dev Cell. 2009 Apr;16(4):489-90. doi: 10.1016/j.devcel.2009.04.004.

36.

Influence of different oral rehydration solutions on abomasal conditions and the acid-base status of suckling calves.

Bachmann L, Homeier T, Arlt S, Brueckner M, Rawel H, Deiner C, Hartmann H.

J Dairy Sci. 2009 Apr;92(4):1649-59. doi: 10.3168/jds.2008-1487.

37.

Cilia multifunctional organelles at the center of vertebrate left-right asymmetry.

Basu B, Brueckner M.

Curr Top Dev Biol. 2008;85:151-74. doi: 10.1016/S0070-2153(08)00806-5. Review.

PMID:
19147005
38.

Impaired estimated glomerular filtration rate associated with hypothyroidism. Does it really mean an acute renal failure?

Brueckner D, Brueckner M.

BMJ Case Rep. 2009;2009. pii: bcr09.2008.0848. doi: 10.1136/bcr.09.2008.0848. Epub 2009 Apr 3.

39.

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;237(9):2304-14. doi: 10.1002/dvdy.21669.

40.

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;42(4):400-3. doi: 10.1097/01.mcg.0000225632.07039.b6.

PMID:
18277898
41.

Heterotaxia, congenital heart disease, and primary ciliary dyskinesia.

Brueckner M.

Circulation. 2007 Jun 5;115(22):2793-5. No abstract available.

PMID:
17548739
42.

Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia.

Tashjian DB, Weeks B, Brueckner M, Touloukian RJ.

J Pediatr Surg. 2007 Mar;42(3):528-31.

PMID:
17336193
43.

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.

Davis EE, Brueckner M, Katsanis N.

Dev Cell. 2006 Jul;11(1):9-19. Review.

44.

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.

Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23.

PMID:
16183809
45.

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;132(19):4407-17.

46.

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;131(20):5197-209.

47.

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;301(7):549-51. No abstract available.

PMID:
15229864
48.

Cilia are at the heart of vertebrate left-right asymmetry.

McGrath J, Brueckner M.

Curr Opin Genet Dev. 2003 Aug;13(4):385-92. Review.

PMID:
12888012
49.

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;114(1):61-73.

50.

Conserved function for embryonic nodal cilia.

Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M.

Nature. 2002 Jul 4;418(6893):37-8.

PMID:
12097899

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