Ellen Howerton

2024

DNA methylation signatures of prenatal socioeconomic position associated with 36-month language outcomes

Rajaprakash, M., Palmore, M., Bakulski, K. M., Howerton, E., Lyall, K., Schmidt, R. J., Newschaffer, C., Croen, L. A., Hertz-Picciotto, I., Volk, H., Ladd-Acosta, C. & Fallin, M. D., Nov 2024, In: Research in Developmental Disabilities. 154, 104846.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Undiagnosed Diseases Network, Dec 2021, In: Scientific Data. 8, 1, 114.

Research output: Contribution to journal › Article › peer-review

Open Access

Maternal Psychiatric Conditions, Treatment With Selective Serotonin Reuptake Inhibitors, and Neurodevelopmental Disorders

Ames, J. L., Ladd-Acosta, C., Fallin, M. D., Qian, Y., Schieve, L. A., DiGuiseppi, C., Lee, L. C., Kasten, E. P., Zhou, G., Pinto-Martin, J., Howerton, E. M., Eaton, C. L. & Croen, L. A., Aug 15 2021, In: Biological psychiatry. 90, 4, p. 253-262 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2019

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Undiagnosed Diseases Network, Jan 1 2019, In: Genetics in Medicine. 21, 1, p. 161-172 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

University of Washington Center for Mendelian Genomics & Undiagnosed Diseases Network, Mar 7 2019, In: American journal of human genetics. 104, 3, p. 422-438 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Undiagnosed Diseases Network, Jan 3 2019, In: American journal of human genetics. 104, 1, p. 164-178 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Scopus citations

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Undiagnosed Diseases Network, Jun 1 2019, In: American Journal of Medical Genetics, Part A. 179, 6, p. 966-977 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Undiagnosed Diseases Network & Care4Rare Canada Consortium, Jun 1 2019, In: Nature medicine. 25, 6, p. 911-919 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells

Undiagnosed Disease Network, Jun 2019, In: Molecular Genetics and Genomic Medicine. 7, 6, e686.

Research output: Contribution to journal › Article › peer-review

Open Access

2018

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Undiagnosed Diseases Network, Mar 1 2018, In: American journal of human genetics. 102, 3, p. 494-504 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Characteristics of undiagnosed diseases network applicants: Implications for referring providers

Walley, N. M., Pena, L. D. M., Hooper, S. R., Cope, H., Jiang, Y. H., McConkie-Rosell, A., Sanders, C., Schoch, K., Spillmann, R. C., Strong, K., McCray, A. T., Mazur, P., Esteves, C., Leblanc, K., Adams, D. R., Alejandro, M. E., Allard, P., Ashley, E. A., Azamian, M. S. & Bacino, C. A. & 166 others, Balasubramanyam, A., Barseghyan, H., Batzli, G. F., Beggs, A. H., Bellen, H. J., Bernstein, J. A., Bican, A., Bick, D. P., Birch, C. L., Bonner, D., Boone, B. E., Bostwick, B. L., Briere, L. C., Brown, D. M., Brush, M., Burke, E. A., Burrage, L. C., Chen, S., Clark, G. D., Coakley, T. R., Cogan, J. D., Cooper, C. M., Craigen, W. J., D'Souza, P., Davids, M., Davidson, J. M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dillon, A., Dipple, K. M., Donnell-Fink, L. A., Dorrani, N., Dorset, D. C., Douine, E. D., Draper, D. D., Dries, A. M., Eckstein, D. J., Emrick, L. T., Eng, C. M., Enns, G. M., Eskin, A., Estwick, T., Fernandez, L., Fisher, P. G., Fogel, B. L., Friedman, N. D., Gahl, W. A., Glanton, E., Godfrey, R. A., Goldstein, D. B., Gould, S. E., Gourdine, J. P. F., Groden, C. A., Gropman, A. L., Haendel, M., Hamid, R., Hanchard, N. A., Handley, L. H., Herzog, M. R., Holm, I. A., Hom, J., Howerton, E. M., Huang, Y., Jacob, H. J., Jain, M., Johnston, J. M., Jones, A. L., Koeller, D. M., Kohane, I. S., Kohler, J. N., Krasnewich, D. M., Krieg, E. L., Krier, J. B., Kyle, J. E., Lalani, S. R., Christopher Lau, C., Lazar, J., Lee, B. H., Lee, H., Levy, S. E., Lewis, R. A., Lincoln, S. A., Lipson, A., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Markello, T. C., Marom, R., Martínez-Agosto, J. A., Marwaha, S., May, T., McCormack, C. E., Merker, J. D., Metz, T. O., Might, M., Moretti, P. M., Mulvihill, J. J., Murphy, J. L., Muzny, D. M., Nehrebecky, M. E., Nelson, S. F., Scott Newberry, J., Newman, J. H., Nicholas, S. K., Novacic, D., Orange, J. S., Carl Pallais, J., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Reuter, C. M., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Sampson, J. B., Samson, S. L., Schroeder, M. C., Scott, D. A., Sharma, P., Silverman, E. K., Sinsheimer, J. S., Smith, K. S., Soldatos, A. G., Stoler, J. M., Stong, N., Sullivan, J. A., Sweetser, D. A., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Valivullah, Z. M., Vilain, E., Vogel, T. P., Waggott, D. M., Wahl, C. E., Walsh, C. A., Wangler, M. F., Ward, P. A., Waters, K. M., Webb-Robertson, B. J. M., Westerfield, M., Wheeler, M. T., Wolfe, L. A., Worthey, E. A., Yamamoto, S., Yang, Y., Yu, G., Zastrow, D. B., Zhao, C., Zheng, A., Wise, A. L. & Shashi, V., Aug 22 2018, In: BMC health services research. 18, 1, 652.

Research output: Contribution to journal › Article › peer-review

Open Access