Cheryl Maslen

Professor

  • 4492 Citations
  • 27 h-Index
1976 …2020

Research output per year

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Research Output

2020

Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors

BAVCon Investigators & GenTAC Registry Investigators, Jun 2020, In : Journal of Thoracic and Cardiovascular Surgery. 159, 6, p. 2216-2226.e2

Research output: Contribution to journalArticle

2 Scopus citations
2019

The genetic basis of Turner syndrome aortopathy

Corbitt, H., Gutierrez, J., Silberbach, M. & Maslen, C. L., Mar 2019, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 1, p. 117-125 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

The Turner syndrome research registry: Creating equipoise between investigators and participants

Scientific Advisory Board of the TSRR, Mar 2019, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 1, p. 135-140 6 p.

Research output: Contribution to journalArticle

4 Scopus citations
2018
4 Scopus citations

Analysis of copy number variants on chromosome 21 in down syndrome-associated congenital heart defects

Rambo-Martin, B. L., Mulle, J. G., Cutler, D. J., Bean, L. J. H., Rosser, T. C., Dooley, K. J., Cua, C., Capone, G., Maslen, C. L., Reeves, R. H., Sherman, S. L. & Zwick, M. E., Jan 1 2018, In : G3: Genes, Genomes, Genetics. 8, 1, p. 105-111 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Associations between medical history, cognition, and behavior in youth with down syndrome: A report from the down syndrome cognition project

Rosser, T. C., Edgin, J. O., Capone, G. T., Hamilton, D. R., Allen, E. G., Dooley, K. J., Anand, P., Strang, J. F., Armour, A. C., Frank-Crawford, M. A., Channell, M. M., Pierpont, E. I., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 2018, In : American Journal on Intellectual and Developmental Disabilities. 123, 6, p. 514-528 15 p.

Research output: Contribution to journalArticle

6 Scopus citations

Recent advances in placenta-heart interactions

Maslen, C. L., Jun 14 2018, In : Frontiers in Physiology. 9, JUN, 735.

Research output: Contribution to journalReview article

7 Scopus citations

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

GenTAC Registry Investigators, Oct 2018, In : PLoS genetics. 14, 10, e1007692.

Research output: Contribution to journalArticle

22 Scopus citations
2017

Associations of Age and Sex with Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry

Roman, M. J., Devereux, R. B., Preiss, L. R., Asch, F. M., Eagle, K. A., Holmes, K. W., Lemaire, S. A., Maslen, C. L., Milewicz, D. M., Morris, S. A., Prakash, S. K., Pyeritz, R. E., Ravekes, W. J., Shohet, R. V., Song, H. K. & Weinsaft, J. W., Jun 1 2017, In : Circulation: Cardiovascular Genetics. 10, 3, e001647.

Research output: Contribution to journalArticle

19 Scopus citations

Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry

GenTAC Investigators, Nov 1 2017, In : Congenital Heart Disease. 12, 6, p. 740-745 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

The Arizona cognitive test battery for down syndrome: Test-retest reliability & practice effects

Edgin, J. O., Anand, P., Rosser, T., Pierpont, E. I., Figueroa, C., Hamilton, D., Huddleston, L., Mason, G., Spaǹo, G., Toole, L., Nguyen-Driver, M., Capone, G., Abbeduto, L., Maslen, C., Reeves, R. H. & Sherman, S., May 1 2017, In : American Journal on Intellectual and Developmental Disabilities. 122, 3, p. 215-234 20 p.

Research output: Contribution to journalArticle

10 Scopus citations
2016
23 Scopus citations

Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

on behalf of the GENTAC Registry Investigators, Jan 1 2016, In : Journal of the American College of Cardiology. 67, 23, p. 2744-2754 11 p.

Research output: Contribution to journalArticle

31 Scopus citations

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

BAVCon Investigators, GenTAC Registry Investigators, Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3157-3164 8 p.

Research output: Contribution to journalArticle

24 Scopus citations

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Burnicka-Turek, O., Steimle, J. D., Huang, W., Felker, L., Kamp, A., Kweon, J., Peterson, M., Reeves, R. H., Maslen, C. L., Gruber, P. J., Yang, X. H., Shendure, J. & Moskowitz, I. P., 2016, In : Human molecular genetics. 25, 14, p. 3011-3028 18 p.

Research output: Contribution to journalArticle

19 Scopus citations

Penetrance of congenital heart disease in a mouse model of down syndrome depends on a trisomic potentiator of a disomic modifier

Li, H., Edie, S., Klinedinst, D., Jeong, J. S., Blackshaw, S., Maslen, C. L. & Reeves, R. H., Jun 2016, In : Genetics. 203, 2, p. 763-770 8 p.

Research output: Contribution to journalArticle

15 Scopus citations
2015

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome

Doyle, J. J., Doyle, A. J., Wilson, N. K., Habashi, J. P., Bedja, D., Whitworth, R. E., Lindsay, M. E., Schoenhoff, F., Myers, L., Huso, N., Bachir, S., Squires, O., Rusholme, B., Ehsan, H., Huso, D., Thomas, C. J., Caulfield, M. J., Van Eyk, J. E., Judge, D. P., Dietz, H. C. & 50 others, Farrar, C., Ravekes, W., Dietz, H. C., Lurman, K., Holmes, K. W., Habashi, J., Milewicz, D. M., Prakash, S. K., Terry, M., Lemaire, S. A., Morris, S. A., Volguina, I., Maslen, C. L., Song, H. K., Silberbach, G. M., Pyeritz, R. E., Bavaria, J. E., Milewski, K., Parker, A., Devereux, R. B., Weinsaft, J. W., Roman, M. J., Latortue, T., Shohet, R., Kennedy, F., McDonnell, N., Griswold, B., Asch, F. M., Weissman, N. J., Eagle, K. A., Tolunay, H. E., Desvigne-Nickens, P., Stylianou, M. P., Mitchell, M., Tseng, H., Kroner, B. L., Hendershot, T., Whitworth, R., Ringer, D., Dietz, H. C., McCallion, A., Loeys, B., Van Laer, L., Eriksson, P., Franco-Cereceda, A., Mertens, L., Mittal, S., Mohamed, S. A., Andelfinger, G. & Dietz, H. C., Oct 27 2015, In : eLife. 4, OCTOBER2015, e08648.

Research output: Contribution to journalArticle

38 Scopus citations

Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects

Ramachandran, D., Mulle, J. G., Locke, A. E., Bean, L. J. H., Rosser, T. C., Bose, P., Dooley, K. J., Cua, C. L., Capone, G. T., Reeves, R. H., Maslen, C. L., Cutler, D. J., Sherman, S. L. & Zwick, M. E., Jul 2 2015, In : Genetics in Medicine. 17, 7, p. 554-560 7 p.

Research output: Contribution to journalArticle

17 Scopus citations

Genome-wide association study of down syndrome-associated atrioventricular septal defects

Ramachandran, D., Zeng, Z., Locke, A. E., Mulle, J. G., Bean, L. J. H., Rosser, T. C., Dooley, K. J., Cua, C. L., Capone, G. T., Reeves, R. H., Maslen, C. L., Cutler, D. J., Feingold, E., Sherman, S. L. & Zwick, M. E., 2015, In : G3: Genes, Genomes, Genetics. 5, 10, p. 1961-1971 11 p.

Research output: Contribution to journalArticle

17 Scopus citations

Human genetics of atrioventricular septal defect

Maslen, C., Jan 1 2015, Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways. Springer-Verlag Wien, p. 349-356 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery

Backeljauw, P. F., Bondy, C., Chernausek, S. D., Cernich, J. T., Cole, D. A., Fasciano, L. P., Foodim, J., Hawley, S., Hong, D. S., Knickmeyer, R. C., Kruszka, P., Lin, A. E., Lippe, B. M., Lorigan, G. A., Maslen, C. L., Mauras, N., Page, D. C., Pemberton, V. L., Prakash, S. K., Quigley, C. A. & 5 others, Ranallo, K. C., Reiss, A. L., Sandberg, D. E., Scurlock, C. & Silberbach, M., Sep 1 2015, In : American Journal of Medical Genetics, Part A. 167, 9, p. 1962-1971 10 p.

Research output: Contribution to journalArticle

9 Scopus citations
2014

An ethinyl estradiol-levonorgestrel containing oral contraceptive does not alter cytochrome p4502c9 in vivo activity

Cherala, G., Pearson, J., Maslen, C. & Edelman, A., Mar 2014, In : Drug Metabolism and Disposition. 42, 3, p. 323-325 3 p.

Research output: Contribution to journalArticle

6 Scopus citations

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Prakash, S., Guo, D., Maslen, C. L., Silberbach, M., Milewicz, D. & Bondy, C. A., Jan 2014, In : Genetics in Medicine. 16, 1, p. 53-59 7 p.

Research output: Contribution to journalArticle

25 Scopus citations

Valve-sparing aortic root replacement in patients with Marfan syndrome enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions.

Song, H. K., Preiss, L. R., Maslen, C. L., Kroner, B., Devereux, R. B., Roman, M. J., Holmes, K. W., Tolunay, H. E., Desvigne-Nickens, P., Asch, F. M., Milewski, R. K., Bavaria, J., LeMaire, S. A. & GenTAC Consortium, C., May 2014, In : The Journal of heart valve disease. 23, 3, p. 292-298 7 p.

Research output: Contribution to journalArticle

7 Scopus citations
2013

Clopidogrel variability: Role of plasma protein binding alterations

Ganesan, S., Williams, C., Maslen, C. L. & Cherala, G., Jun 1 2013, In : British Journal of Clinical Pharmacology. 75, 6, p. 1468-1477 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection

Holmes, K. W., Maslen, C. L., Kindem, M., Kroner, B. L., Song, H. K., Ravekes, W., Dietz, H. C., Weinsaft, J. W., Roman, M. J., Devereux, R. B., Pyeritz, R. E., Bavaria, J., Milewski, K., Milewicz, D., Lemaire, S. A., Hendershot, T., Eagle, K. A., Tolunay, H. E., Desvigne-Nickens, P. & Silberbach, M., Apr 1 2013, In : American Journal of Medical Genetics, Part A. 161, 4, p. 779-786 8 p.

Research output: Contribution to journalArticle

21 Scopus citations
2012

An excess of deleterious variants in VEGF-A pathway genes in down-syndrome-associated atrioventricular septal defects

Ackerman, C., Locke, A. E., Feingold, E., Reshey, B., Espana, K., Thusberg, J., Mooney, S., Bean, L. J. H., Dooley, K. J., Cua, C. L., Reeves, R. H., Sherman, S. L. & Maslen, C. L., Oct 5 2012, In : American Journal of Human Genetics. 91, 4, p. 646-659 14 p.

Research output: Contribution to journalArticle

58 Scopus citations

Genetic modifiers predisposing to congenital heart disease in the sensitized down syndrome population

Li, H., Cherry, S., Klinedinst, D., DeLeon, V., Redig, J., Reshey, B., Chin, M. T., Sherman, S. L., Maslen, C. L. & Reeves, R. H., Jun 1 2012, In : Circulation: Cardiovascular Genetics. 5, 3, p. 301-308 8 p.

Research output: Contribution to journalArticle

38 Scopus citations

Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry

Song, H. K., Kindem, M., Bavaria, J. E., Dietz, H. C., Milewicz, D. M., Devereux, R. B., Eagle, K. A., Maslen, C. L., Kroner, B. L., Pyeritz, R. E., Holmes, K. W., Weinsaft, J. W., Menashe, V., Ravekes, W. & Lemaire, S. A., Feb 1 2012, In : Journal of Thoracic and Cardiovascular Surgery. 143, 2, p. 282-286 5 p.

Research output: Contribution to journalArticle

25 Scopus citations

Mechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials

McKenna, K. A., Hinds, M. T., Sarao, R. C., Wu, P. C., Maslen, C. L., Glanville, R. W., Babcock, D. & Gregory, K. W., Jan 1 2012, In : Acta Biomaterialia. 8, 1, p. 225-233 9 p.

Research output: Contribution to journalArticle

89 Scopus citations

Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect

Ghosh, P., Bhaumik, P., Ghosh, S., Ozbek, U., Feingold, E., Maslen, C., Sarkar, B., Pramanik, V., Biswas, P., Bandyopadhyay, B. & Dey, S. K., Nov 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2843-2848 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Zhian, S., Belmont, J. & Maslen, C. L., Aug 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 8, p. 2047-2049 3 p.

Research output: Contribution to journalLetter

10 Scopus citations

Structural and cellular characterization of electrospun recombinant human tropoelastin biomaterials

McKenna, K. A., Gregory, K. W., Sarao, R. C., Maslen, C. L., Glanville, R. W. & Hinds, M. T., Aug 1 2012, In : Journal of Biomaterials Applications. 27, 2, p. 219-230 12 p.

Research output: Contribution to journalArticle

14 Scopus citations
2011

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

Joziasse, I. C., Smith, K. A., Chocron, S., Van Dinther, M., Guryev, V., Van De Smagt, J. J., Cuppen, E., Ten Dijke, P., Mulder, B. J. M., Maslen, C. L., Reshey, B., Doevendans, P. A. & Bakkers, J., Apr 1 2011, In : European Journal of Human Genetics. 19, 4, p. 389-393 5 p.

Research output: Contribution to journalArticle

21 Scopus citations

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

Lemaire, S. A., McDonald, M. L. N., Guo, D. C., Russell, L., Miller, C. C., Johnson, R. J., Bekheirnia, M. R., Franco, L. M., Nguyen, M., Pyeritz, R. E., Bavaria, J. E., Devereux, R., Maslen, C., Holmes, K. W., Eagle, K., Body, S. C., Seidman, C., Seidman, J. G., Isselbacher, E. M., Bray, M. & 6 others, Coselli, J. S., Estrera, A. L., Safi, H. J., Belmont, J. W., Leal, S. M. & Milewicz, D. M., Oct 1 2011, In : Nature genetics. 43, 10, p. 996-1002 7 p.

Research output: Contribution to journalArticle

106 Scopus citations

Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms

Mendoza, D. D., Kochar, M., Devereux, R. B., Basson, C. T., Min, J. K., Holmes, K., Dietz, H. C., Milewicz, D. M., Lemaire, S. A., Pyeritz, R. E., Bavaria, J. E., Maslen, C. L., Song, H., Kroner, B. L., Eagle, K. A. & Weinsaft, J. W., Sep 2011, In : Annals of Thoracic Surgery. 92, 3, p. 904-912 9 p.

Research output: Contribution to journalArticle

45 Scopus citations

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): Results from phase i and scientific opportunities in phase II

Kroner, B. L., Tolunay, H. E., Basson, C. T., Pyeritz, R. E., Holmes, K. W., Maslen, C. L., Milewicz, D. M., Lemaire, S. A., Hendershot, T., Desvigne-Nickens, P., Devereux, R. B., Dietz, H. C., Song, H. K., Ringer, D., Mitchell, M., Weinsaft, J. W., Ravekes, W., Menashe, V. & Eagle, K. A., Oct 2011, In : American heart journal. 162, 4, p. 627-632.e1

Research output: Contribution to journalArticle

26 Scopus citations
2010

Development and validation of the Arizona Cognitive Test Battery for Down syndrome

Edgin, J. O., Mason, G. M., Allman, M. J., Capone, G. T., DeLeon, I., Maslen, C., Reeves, R. H., Sherman, S. L. & Nadel, L., Jul 12 2010, In : Journal of Neurodevelopmental Disorders. 2, 3, p. 149-164 16 p.

Research output: Contribution to journalArticle

109 Scopus citations
2009

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

Parker, H. G., VonHoldt, B. M., Quignon, P., Margulies, E. H., Shao, S., Mosher, D. S., Spady, T. C., Elkahloun, A., Cargill, M., Jones, P. G., Maslen, C. L., Acland, G. M., Sutter, N. B., Kuroki, K., Bustamante, C. D., Wayne, R. K. & Ostrander, E. A., 2009, In : Science. 325, 5943, p. 995-998 4 p.

Research output: Contribution to journalArticle

185 Scopus citations

Surgical Treatment of Patients Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Conditions

Song, H. K., Bavaria, J. E., Kindem, M. W., Holmes, K. W., Milewicz, D. M., Maslen, C. L., Pyeritz, R. E., Basson, C. T., Eagle, K., Tolunay, H. E., Kroner, B. L., Dietz, H., Menashe, V., Devereux, R. B., Desvigne-Nickens, P., Ravekes, W., Weinsaft, J. W., Brambilla, D., Stylianou, M. P., Hendershot, T. & 2 others, Mitchell, M. S. & LeMaire, S. A., Sep 1 2009, In : Annals of Thoracic Surgery. 88, 3, p. 781-788 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

The FBN2 gene: New mutations, locus-specific database (universal mutation database FBN2), and genotype-phenotype correlations

Frédéric, M. Y., Monino, C., Marschall, C., Hamroun, D., Faivre, L., Jondeau, G., Klein, H. G., Neumann, L., Gautier, E., Binquet, C., Maslen, C., Godfrey, M., Gupta, P., Milewicz, D., Boileau, C., Claustres, M., Béroud, C. & Collod-Béroud, G., Feb 2009, In : Human mutation. 30, 2, p. 181-190 10 p.

Research output: Contribution to journalReview article

29 Scopus citations
2008

Report of the national heart, lung, and blood institute and national marfan foundation working group on research in marfan syndrome and related disorders

Pearson, G. D., Devereux, R., Loeys, B., Maslen, C., Milewicz, D., Pyeritz, R., Ramirez, F., Rifkin, D., Sakai, L., Svensson, L., Wessels, A., Van Eyk, J. & Dietz, H. C., Aug 12 2008, In : Circulation. 118, 7, p. 785-791 7 p.

Research output: Contribution to journalReview article

83 Scopus citations
2007

GATA4 sequence variants in patients with congenital heart disease

Tomita-Mitchell, A., Maslen, C. L., Morris, C. D., Garg, V. & Goldmuntz, E., Dec 1 2007, In : Journal of medical genetics. 44, 12, p. 779-783 5 p.

Research output: Contribution to journalArticle

147 Scopus citations
2006

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome [1]

Maslen, C. L., Babcock, D., Robinson, S. W., Bean, L. J. H., Dooley, K. J., Willour, V. L. & Sherman, S. L., Nov 15 2006, In : American Journal of Medical Genetics, Part A. 140, 22, p. 2501-2505 5 p.

Research output: Contribution to journalLetter

57 Scopus citations

CRELD2: Gene mapping, alternate splicing, and comparative genomic identification of the promoter region

Maslen, C. L., Babcock, D., Redig, J. K., Kapeli, K., Akkari, Y. M. & Olson, S. B., Nov 1 2006, In : Gene. 382, p. 111-120 10 p.

Research output: Contribution to journalArticle

11 Scopus citations
2005

PTPN11 mutations play a minor role in isolated congenital heart disease

Weismann, C. G., Hager, A., Kaemmerer, H., Maslen, C. L., Morris, C. D., Schranz, D., Kreuder, J. & Gelb, B. D., Jul 15 2005, In : American Journal of Medical Genetics. 136 A, 2, p. 146-151 6 p.

Research output: Contribution to journalArticle

19 Scopus citations
2004

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome

Ginat, S., Battaile, K. P., Battaile, B. C., Maslen, C., Gibson, K. M. & Steiner, R. D., Sep 1 2004, In : Molecular Genetics and Metabolism. 83, 1-2, p. 175-183 9 p.

Research output: Contribution to journalConference article

5 Scopus citations

Molecular genetics of atrioventricular septal defects

Maslen, C. L., May 1 2004, In : Current Opinion in Cardiology. 19, 3, p. 205-210 6 p.

Research output: Contribution to journalReview article

33 Scopus citations