Research output per year
Research output per year
Research output
- 19 Article
- 19 results
Search results
-
2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
Liu, D., Billington, C. J., Raja, N., Wong, Z. C., Levin, M. D., Resch, W., Alba, C., Hupalo, D. N., Biamino, E., Bedeschi, M. F., Digilio, M. C., Squeo, G. M., Villa, R., Parrish, P. C. R., Knutsen, R. H., Osgood, S., Freeman, J. A., Dalgard, C. L., Merla, G., Pober, B. R., & 5 others, Feb 6 2024, In: Journal of the American Heart Association. 13, 3, e031377.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure
Tsang, K. M., Knutsen, R. H., Billington, C. J., Lindberg, E., Steenbock, H., Fu, Y. P., Wardlaw-Pickett, A., Liu, D., Malide, D., Yu, Z. X., Bleck, C. K. E., Brinckmann, J. & Kozel, B. A., Jun 1 2022, In: International journal of molecular sciences. 23, 12, 6749.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome
Brink, B. D., Feinn, R., Kozel, B. A., Billington, C. J., Liu, D., Yu, E., Sindhar, S., He, J., Rouse, C., Lampert, R., Pober, B. R. & Elder, R. W., Oct 2022, In: Pediatric Cardiology. 43, 7, p. 1559-1567 9 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
Billington, C. J., Chapman, K. A., Leon, E., Meltzer, B. W., Berger, S. I., Olson, M., Figler, R. A., Hoang, S. A., Wanxing, C., Wamhoff, B. R., Collado, M. S. & Cusmano-Ozog, K., Sep 2022, In: American Journal of Medical Genetics, Part A. 188, 9, p. 2738-2749 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Di Donato, N., Guerrini, R., Billington, C. J., Barkovich, A. J., Dinkel, P., Freri, E., Heide, M., Gershon, E. S., Gertler, T. S., Hopkin, R. J., Jacob, S., Keedy, S. K., Kooshavar, D., Lockhart, P. J., Lohmann, D. R., Mahmoud, I. G., Parrini, E., Schrock, E., Severi, G., Timms, A. E., & 6 others, Sep 1 2022, In: Brain. 145, 9, p. 3274-3287 14 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
2021
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19
Rare Disease Institute, Jan 2021, In: American Journal of Medical Genetics, Part A. 185, 1, p. 68-72 5 p.Research output: Contribution to journal › Article › peer-review
Open Access34 Scopus citations -
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis
Summerlin, M. L., Regier, D. S., Fraser, J. L., Chapman, K. A., Kafashzadeh, D., Billington, C., Kisling, M., Grochowsky, A., Ah Mew, N. & Shur, N., Feb 2021, In: American Journal of Medical Genetics, Part A. 185, 2, p. 500-507 8 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk
Parrish, P. C. R., Liu, D., Knutsen, R. H., Billington, C. J., Mecham, R. P., Fu, Y. P. & Kozel, B. A., 2021, In: Human molecular genetics. 29, 12, p. 2035-2050 16 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
Davids, M., Menezes, M., Guo, Y., McLean, S. D., Hakonarson, H., Collins, F., Worgan, L., Billington, C. J., Maric, I., Littlejohn, R. O., Onyekweli, T., Members of the UDN, O. T. UDN., Adams, D. R., Tifft, C. J., Gahl, W. A., Wolfe, L. A., Christodoulou, J. & Malicdan, M. C. V., May 2020, In: Molecular Genetics and Metabolism. 130, 1, p. 49-57 9 p.Research output: Contribution to journal › Article › peer-review
13 Scopus citations -
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome
Lugo, M., Wong, Z. C., Billington, C. J., Parrish, P. C. R., Muldoon, G., Liu, D., Pober, B. R. & Kozel, B. A., May 1 2020, In: American Journal of Medical Genetics, Part A. 182, 5, p. 1008-1020 13 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
2017
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
NISC Comparative Sequencing Program, Apr 1 2017, In: Human Genetics. 136, 4, p. 409-420 12 p.Research output: Contribution to journal › Article › peer-review
22 Scopus citations -
2015
Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice
Billington, C. J., Schmidt, B., Marcucio, R. S., Hallgrimsson, B., Gopalakrishnan, R. & Petryk, A., Feb 1 2015, In: DMM Disease Models and Mechanisms. 8, 2, p. 139-146 8 p.Research output: Contribution to journal › Article › peer-review
18 Scopus citations -
The Function of Twisted Gastrulation in Regulating Osteoclast Differentiation is Dependent on BMP Binding
Huntley, R., Davydova, J., Petryk, A., Billington, C. J., Jensen, E. D., Mansky, K. C. & Gopalakrishnan, R., Oct 1 2015, In: Journal of Cellular Biochemistry. 116, 10, p. 2239-2246 8 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
2011
Glycosylation oftwisted gastrulation is required for BMP binding and activity during craniofacial development
Billington, C. J., Fiebig, J. E., Forsman, C. L., Pham, L., Burbach, N., Sun, M., Jaskoll, T., Mansky, K., Gopalakrishnan, R., O'Connor, M. B., Mueller, T. D. & Petryk, A., 2011, In: Frontiers in Physiology. 2 SEP, Article 59.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
The molecular and cellular basis of variable craniofacial phenotypes and their genetic rescue in Twisted gastrulation mutant mice
Billington, C. J., Ng, B., Forsman, C., Schmidt, B., Bagchi, A., Symer, D. E., Schotta, G., Gopalakrishnan, R., Sarver, A. L. & Petryk, A., Jul 1 2011, In: Developmental Biology. 355, 1, p. 21-31 11 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
2010
Bone morphogenic protein 2 directly enhances differentiation of murine osteoclast precursors
Jensen, E. D., Pham, L., Billington, C. J., Espe, K., Carlson, A. E., Westendorf, J. J., Petryk, A., Gopalakrishnan, R. & Mansky, K., Mar 1 2010, In: Journal of Cellular Biochemistry. 109, 4, p. 672-682 11 p.Research output: Contribution to journal › Article › peer-review
109 Scopus citations -
2009
Twisted gastrulation limits apoptosis in the distal region of the mandibular arch in mice
MacKenzie, B. A., Wolff, R., Lowe, N., Billington, C. J., Peterson, A., Schmidt, B., Graf, D., Mina, M., Gopalakrishnan, R. & Petryk, A., Apr 1 2009, In: Developmental Biology. 328, 1, p. 13-23 11 p.Research output: Contribution to journal › Article › peer-review
29 Scopus citations -
2008
Hypoxia induces cardiac malformations via A1 adenosine receptor activation in chicken embryos
Ghatpande, S. K., Billington, C. J., Rivkees, S. A. & Wendler, C. C., Mar 2008, In: Birth Defects Research Part A - Clinical and Molecular Teratology. 82, 3, p. 121-130 10 p.Research output: Contribution to journal › Article › peer-review
22 Scopus citations -
2006
Drosophila target of rapamycin kinase functions as a multimer
Zhang, Y., Billington, C. J., Pan, D. & Neufeld, T. P., Jan 2006, In: Genetics. 172, 1, p. 355-362 8 p.Research output: Contribution to journal › Article › peer-review
Open Access73 Scopus citations