Ellen Howerton

Research output

Research output per year 2017 2017 2018 2019 2021

• 14 Article
• 1 Comment/debate
• 1 Review article

Research output per year

Research output per year

Search results

• 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

  • Metabolomics 100%
  • Resources 58%
  • Mass Spectrometry 27%
  • resources 27%
  • Mass spectrometry 22%

• 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

  • Neurodevelopmental Disorders 100%
  • Serotonin Uptake Inhibitors 93%
  • Psychiatry 63%
  • Autism Spectrum Disorder 58%
  • Mothers 54%
• 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

  • Exome 100%
  • Genome 18%
  • Computational Biology 17%
  • Genetic Association Studies 9%
  • Costs and Cost Analysis 5%

• 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

  • Zebrafish 100%
  • Strudwick syndrome 94%
  • Coxa Vara 80%
  • Agammaglobulinemia 66%
  • Camptothecin 64%

• 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

  • Intellectual Disability 100%
  • Nicolaides Baraitser syndrome 72%
  • Hypertrichosis 52%
  • Eyebrows 48%
  • Genes 42%
  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

  • Phacomatosis pigmentovascularis 100%
  • Neurocutaneous Syndromes 73%
  • Blood Vessels 30%
  • Mutation 28%
  • Capillary Malformations, Congenital, 1 27%

• 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

  • RNA Sequencing 100%
  • RNA Sequence Analysis 67%
  • Transcriptome 55%
  • Whole Exome Sequencing 28%
  • Genes 24%

• 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

  • Immunoglobulin G4-Related Disease 100%
  • Fibroblast Growth Factors 85%
  • Carrier Proteins 52%
  • T-Lymphocytes 44%
  • Nuclear Family 28%
• 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

  • Mitochondrial Diseases 100%
  • 3-Methylglutaconic Aciduria 74%
  • oligomycin sensitivity-conferring protein 64%
  • Mitochondrial Proton-Translocating ATPases 62%
  • Adenosine Triphosphate 62%

• 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 othersBalasubramanyam, 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

  • Undiagnosed Diseases 100%
  • applicant 59%
  • Referral and Consultation 19%
  • diagnostic 9%
  • diagnostic purposes 8%

• IRF2BPL Is Associated with Neurological Phenotypes

  Program for Undiagnosed Diseases (UD-PrOZA) & Undiagnosed Diseases Network, Aug 2 2018, In: American journal of human genetics. 103, 2, p. 245-260 16 p.

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

  Open Access

  • Interferon Regulatory Factor-2 100%
  • Carrier Proteins 47%
  • Phenotype 33%
  • Diptera 17%
  • Ataxia 16%

• Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

  Undiagnosed Diseases Network members, Apr 1 2018, In: Genetics in Medicine. 20, 4, p. 464-469 6 p.

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

  Open Access

  • Undiagnosed Diseases 100%
  • Exome 77%
  • Whole Exome Sequencing 76%
  • Molecular Pathology 73%
  • Phenotype 38%
• 2017

  A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

  Undiagnosed Diseases Network, Jan 5 2017, In: American journal of human genetics. 100, 1, p. 128-137 10 p.

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

  Open Access

  • Neurodevelopmental Disorders 100%
  • B-Lymphocytes 65%
  • Homeobox Genes 42%
  • Nervous System 29%
  • Intellectual Disability 22%

• MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

  UDN, Jun 1 2017, In: American journal of human genetics. 100, 6, p. 843-853 11 p.

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

  Open Access

  • Genetic Models 100%
  • Human Genome 93%
  • Databases 53%
  • Genetic Databases 46%
  • Human Genetics 43%