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2020

Screening for Hepatitis C Virus Infection in Adolescents and Adults: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force

Chou, R., Dana, T., Fu, R., Zakher, B., Wagner, J., Ramirez, S., Grusing, S. & Jou, J. H., Mar 10 2020, In : JAMA - Journal of the American Medical Association. 323, 10, p. 976-991 16 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
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 journalArticle

12 Scopus citations

An analysis and metric of reusable data licensing practices for biomedical resources

Carbon, S., Champieux, R., McMurry, J. A., Winfree, L., Wyatt, L. R. & Haendel, M. A., Mar 2019, In : PloS one. 14, 3, e0213090.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

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 journalArticle

Data-driven method to enhance craniofacial and oral phenotype vocabularies

Mishra, R., Burke, A., Gitman, B., Verma, P., Engelstad, M., Haendel, M. A., Alevizos, I., Gahl, W. A., Collins, M. T., Lee, J. S. & Sincan, M., Nov 2019, In : Journal of the American Dental Association. 150, 11, p. 933-939.e2

Research output: Contribution to journalArticle

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Köhler, S., Øien, N. C., Buske, O. J., Groza, T., Jacobsen, J. O. B., McNamara, C., Vasilevsky, N., Carmody, L. C., Gourdine, J. P., Gargano, M., McMurry, J. A., Danis, D., Mungall, C. J., Smedley, D., Haendel, M. & Robinson, P. N., Jan 1 2019, In : Current protocols in human genetics. 103, 1, e92.

Research output: Contribution to journalArticle

2 Scopus citations

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 journalArticle

6 Scopus citations

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J. P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 others, Jansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., Jan 8 2019, In : Nucleic acids research. 47, D1, p. D1018-D1027

Research output: Contribution to journalArticle

77 Scopus citations

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

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

Research output: Contribution to journalArticle

3 Scopus citations

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 journalArticle

21 Scopus citations

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 journalArticle

Open Access
1 Scopus citations

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Preexposure prophylaxis for the prevention of HIV infection: Evidence report and systematic review for the US preventive services task force

Chou, R., Evans, C., Hoverman, A., Sun, C., Dana, T., Bougatsos, C., Grusing, S. & Korthuis, P. T., Jun 11 2019, In : JAMA - Journal of the American Medical Association. 321, 22, p. 2214-2230 17 p.

Research output: Contribution to journalArticle

13 Scopus citations

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery

Gourdine, J. P. F., Brush, M. H., Vasilevsky, N. A., Shefchek, K., Köhler, S., Matentzoglu, N., Munoz-Torres, M. C., McMurry, J. A., Zhang, X. A., Robinson, P. N. & Haendel, M. A., Jan 1 2019, In : Database : the journal of biological databases and curation. 2019

Research output: Contribution to journalArticle

Open Access

Ten quick tips for biocuration

Tang, Y. A., Pichler, K., Füllgrabe, A., Lomax, J., Malone, J., Munoz-Torres, M. C., Vasant, D. V., Williams, E. & Haendel, M., May 2019, In : PLoS computational biology. 15, 5, e1006906.

Research output: Contribution to journalArticle

Open Access

The Global academic research organization network: Data sharing to cure diseases and enable learning health systems

Fukushima, M., Austin, C., Sato, N., Maruyama, T., Navarro, E., Rocca, M., Demotes, J., Haendel, M., Volchenboum, S. L., Cowperthwaite, M., Silverstein, J. C., Webb, C., Sim, I., Chase, M., Speakman, J., Augustine, E., Ford, D. E. & Kush, R., Jan 1 2019, In : Learning Health Systems. 3, 1, e10073.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
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 journalArticle

18 Scopus citations

Biocuration: Distilling data into knowledge

International Society for Biocuration, Apr 16 2018, In : PLoS Biology. 16, 4, e2002846.

Research output: Contribution to journalArticle

1 Scopus citations

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 journalArticle

3 Scopus citations

Classification, ontology, and precision medicine

Haendel, M. A., Chute, C. G. & Robinson, P. N., Oct 11 2018, In : New England Journal of Medicine. 379, 15, p. 1452-1462 11 p.

Research output: Contribution to journalArticle

55 Scopus citations

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

Dolman, L., Page, A., Babb, L., Freimuth, R. R., Arachchi, H., Bizon, C., Brush, M., Fiume, M., Haendel, M., Hansen, D. P., Milosavljevic, A., Patel, R. Y., Pawliczek, P., Yates, A. D. & Rehm, H. L., Nov 1 2018, In : Human Mutation. 39, 11, p. 1686-1689 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

From museum to archives: managing the Panama Canal Museum Collection

Nemmers, J. R., Duckworth, S., Marcetti, J. B. & Santamaría-Wheeler, L., Jan 2 2018, In : Archives and Records. 39, 1, p. 42-56 15 p.

Research output: Contribution to journalArticle

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 journalArticle

14 Scopus citations

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 journalArticle

14 Scopus citations

matchbox: An open-source tool for patient matching via the Matchmaker Exchange

Arachchi, H., Wojcik, M. H., Weisburd, B., Jacobsen, J. O. B., Valkanas, E., Baxter, S., Byrne, A. B., O'Donnell-Luria, A. H., Haendel, M., Smedley, D., MacArthur, D. G., Philippakis, A. A. & Rehm, H. L., Jan 1 2018, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

3 Scopus citations

The First National Institutes of Health Institutional Training Program in Emergency Care Research: Productivity and Outcomes

Newgard, C., Morris, C., Smith, L., Cook, J. N. B., Yealy, D. M., Collins, S., Holmes, J. F., Kuppermann, N., Richardson, L. D., Kimmel, S., Becker, L. B., Scott, J. D., Lowe, R. B., Callaway, C. W., Gowen, L. K., Baren, J., Storrow, A. B., Vasilevsky, N., White, M. & Zell, A., Jan 1 2018, (Accepted/In press) In : Annals of Emergency Medicine.

Research output: Contribution to journalArticle

7 Scopus citations
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 journalArticle

33 Scopus citations

Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The National Institutes of Health undiagnosed diseases program experience

Gall, T., Valkanas, E., Bello, C., Markello, T., Adams, C., Bone, W. P., Brandt, A. J., Brazill, J. M., Carmichael, L., Davids, M., Davis, J., Diaz-Perez, Z., Draper, D., Elson, J., Flynn, E. D., Godfrey, R., Groden, C., Hsieh, C. K., Fischer, R., Golas, G. A. & 31 others, Guzman, J., Huang, Y., Kane, M. S., Lee, E., Li, C., Links, A. E., Maduro, V., Malicdan, M. C. V., Malik, F. S., Nehrebecky, M., Park, J., Pemberton, P., Schaffer, K., Simeonov, D., Sincan, M., Smedley, D., Valivullah, Z., Wahl, C., Washington, N., Wolfe, L. A., Xu, K., Zhu, Y., Gahl, W. A., Tifft, C. J., Toro, C., Adams, D. R., He, M., Robinson, P. N., Haendel, M. A., Grace Zhai, R. & Boerkoel, C. F., 2017, In : Frontiers in Medicine. 4, MAY, 62.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Disease model discovery from 3,328 gene knockouts by the International Mouse Phenotyping Consortium

Meehan, T. F., Conte, N., West, D. B., Jacobsen, J. O., Mason, J., Warren, J., Chen, C. K., Tudose, I., Relac, M., Matthews, P., Karp, N., Santos, L., Fiegel, T., Ring, N., Westerberg, H., Greenaway, S., Sneddon, D., Morgan, H., Codner, G. F., Stewart, M. E. & 43 others, Brown, J., Horner, N., Haendel, M., Washington, N., Mungall, C. J., Reynolds, C. L., Gallegos, J., Gailus-Durner, V., Sorg, T., Pavlovic, G., Bower, L. R., Moore, M., Morse, I., Gao, X., Tocchini-Valentini, G. P., Obata, Y., Cho, S. Y., Seong, J. K., Seavitt, J., Beaudet, A. L., Dickinson, M. E., Herault, Y., Wurst, W., De Angelis, M. H., Kent Lloyd, K. C., Flenniken, A. M., Nutter, L. M. J., Newbigging, S., McKerlie, C., Justice, M. J., Murray, S. A., Svenson, K. L., Braun, R. E., White, J. K., Bradley, A., Flicek, P., Wells, S., Skarnes, W. C., Adams, D. J., Parkinson, H., Mallon, A. M., Brown, S. D. M. & Smedley, D., Aug 1 2017, In : Nature genetics. 49, 8, p. 1231-1238 8 p.

Research output: Contribution to journalArticle

79 Scopus citations

Do oral decongestants have a clinically significant effect on BP in patients with hypertension?

Hollander-Rodriguez, J., Montjoy, H. L., Smedra, B., Prouty, J. P., Hamilton, A. & Guthmann, R., Jun 1 2017, In : Journal of Family Practice. 66, 6, p. E1-E2

Research output: Contribution to journalArticle

1 Scopus citations

Gold-standard ontology-based anatomical annotation in the CRAFT Corpus

Bada, M., Vasilevsky, N., Baumgartner, W. A., Haendel, M. & Hunter, L. E., Jan 1 2017, In : Database : the journal of biological databases and curation. 2017

Research output: Contribution to journalArticle

Open Access

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

McMurry, J. A., Juty, N., Blomberg, N., Burdett, T., Conlin, T., Conte, N., Courtot, M., Deck, J., Dumontier, M., Fellows, D. K., Gonzalez-Beltran, A., Gormanns, P., Grethe, J., Hastings, J., Hériché, J. K., Hermjakob, H., Ison, J. C., Jimenez, R. C., Jupp, S., Kunze, J. & 24 others, Laibe, C., Le Novère, N., Malone, J., Martin, M. J., McEntyre, J. R., Morris, C., Muilu, J., Müller, W., Rocca-Serra, P., Sansone, S. A., Sariyar, M., Snoep, J. L., Soiland-Reyes, S., Stanford, N. J., Swainston, N., Washington, N., Williams, A. R., Wimalaratne, S. M., Winfree, L. M., Wolstencroft, K., Goble, C., Mungall, C. J., Haendel, M. A. & Parkinson, H., Jun 29 2017, In : PLoS Biology. 15, 6, e2001414.

Research output: Contribution to journalArticle

34 Scopus citations
52 Scopus citations

Matchmaker Exchange

on behalf of the Matchmaker Exchange Consortium, Oct 2017, In : Current protocols in human genetics. 95, 1, p. 9.31.1-9.31.15

Research output: Contribution to journalArticle

24 Scopus citations

PDX-MI: Minimal information for patient-derived tumor xenograft models

Meehan, T. F., Conte, N., Goldstein, T., Inghirami, G., Murakami, M. A., Brabetz, S., Gu, Z., Wiser, J. A., Dunn, P., Begley, D. A., Krupke, D. M., Bertotti, A., Bruna, A., Brush, M. H., Byrne, A. T., Caldas, C., Christie, A. L., Clark, D. A., Dowst, H., Dry, J. R. & 34 others, Doroshow, J. H., Duchamp, O., Evrard, Y. A., Ferretti, S., Frese, K. K., Goodwin, N. C., Greenawalt, D., Haendel, M. A., Hermans, E., Houghton, P. J., Jonkers, J., Kemper, K., Khor, T. O., Lewis, M. T., Lloyd, K. C. K., Mason, J., Medico, E., Neuhauser, S. B., Olson, J. M., Peeper, D. S., Rueda, O. M., Seong, J. K., Trusolino, L., Vinolo, E., Wechsler-Reya, R. J., Weinstock, D. M., Welm, A., Weroha, S. J., Amant, F., Pfister, S. M., Kool, M., Parkinson, H., Butte, A. J. & Bult, C. J., Nov 1 2017, In : Cancer Research. 77, 21, p. e62-e66

Research output: Contribution to journalArticle

24 Scopus citations

Reproducible and reusable research: Are journal data sharing policies meeting the mark?

Vasilevsky, N. A., Minnier, J., Haendel, M. A. & Champieux, R., 2017, In : PeerJ. 2017, 4, e3208.

Research output: Contribution to journalArticle

25 Scopus citations

The human phenotype ontology in 2017

Köhler, S., Vasilevsky, N. A., Engelstad, M., Foster, E., McMurry, J., Aymé, S., Baynam, G., Bello, S. M., Boerkoel, C. F., Boycott, K. M., Brudno, M., Buske, O. J., Chinnery, P. F., Cipriani, V., Connell, L. E., Dawkins, H. J. S., DeMare, L. E., Devereau, A. D., De Vries, B. B. A., Firth, H. V. & 39 others, Freson, K., Greene, D., Hamosh, A., Helbig, I., Hum, C., Jähn, J. A., James, R., Krause, R., Laulederkind, S. J. F., Lochmüller, H., Lyon, G. J., Ogishima, S., Olry, A., Ouwehand, W. H., Pontikos, N., Rath, A., Schaefer, F., Scott, R. H., Segal, M., Sergouniotis, P. I., Sever, R., Smith, C. L., Straub, V., Thompson, R., Turner, C., Turro, E., Veltman, M. W. M., Vulliamy, T., Yu, J., Von Ziegenweidt, J., Zankl, A., Züchner, S., Zemojtel, T., Jacobsen, J. O. B., Groza, T., Smedley, D., Mungall, C. J., Haendel, M. & Robinson, P. N., Jan 1 2017, In : Nucleic acids research. 45, D1, p. D865-D876

Research output: Contribution to journalArticle

341 Scopus citations

The Monarch Initiative: An integrative data and analytic platform connecting phenotypes to genotypes across species

Mungall, C. J., McMurry, J. A., Kohler, S., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., Foster, E., Gourdine, J. P., Jacobsen, J. O. B., Keith, D., Laraway, B., Lewis, S. E., Xuan, J. N., Shefchek, K., Vasilevsky, N., Yuan, Z. & 6 others, Washington, N., Hochheiser, H., Groza, T., Smedley, D., Robinson, P. N. & Haendel, M. A., Jan 1 2017, In : Nucleic acids research. 45, D1, p. D712-D722

Research output: Contribution to journalArticle

84 Scopus citations

Tools for exploring mouse models of human disease

Haendel, M., Papatheodorou, I., Oellrich, A., Mungall, C. J., Washington, N., Lewis, S. E., Robinson, P. N. & Smedley, D., 2017, (Accepted/In press) In : Drug Discovery Today: Disease Models.

Research output: Contribution to journalArticle

Translating technobabble: All you really need to know about uris, linked data, and FRBR

Banerjee, J., Dec 1 2017, Computers in Libraries, 37, 10, p. 21-24 4 p.

Research output: Contribution to specialist publicationArticle

2016

Access to human, animal, and environmental journals is still limited for the One Health community

Vreeland, C. E., Alpi, K. M., Pike, C. A., Whitman, E. E. & Kennedy-Stoskopf, S., Apr 2016, In : Journal of the Medical Library Association. 104, 2, p. 100-108 9 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, JO. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, NL. L., McMurry, JA. A., Haendel, MA. A., Mungall, CJ. J., Lewis, SE. E., Groza, T., Valentini, G. & Robinson, PN. N., Sep 1 2016, In : American Journal of Human Genetics. 99, 3, p. 595-606 12 p.

Research output: Contribution to journalArticle

70 Scopus citations

Building a molecular glyco-phenotype ontology to decipher undiagnosed diseases

Gourdine, J. P., Koeller, D., Brush, M. H., Haendel, M. & Metz, T. O., 2016, In : CEUR Workshop Proceedings. 1747

Research output: Contribution to journalArticle

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Bone, W. P., Washington, N. L., Buske, O. J., Adams, D. R., Davis, J., Draper, D., Flynn, E. D., Girdea, M., Godfrey, R., Golas, G., Groden, C., Jacobsen, J., Köhler, S., Lee, E. M. J., Links, A. E., Markello, T. C., Mungall, C. J., Nehrebecky, M., Robinson, P. N., Sincan, M. & 13 others, Soldatos, A. G., Tifft, C. J., Toro, C., Trang, H., Valkanas, E., Vasilevsky, N., Wahl, C., Wolfe, L. A., Boerkoel, C. F., Brudno, M., Haendel, M., Gahl, W. A. & Smedley, D., Jun 1 2016, In : Genetics in Medicine. 18, 6, p. 608-617 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

Distributed cognition and process management enabling individualized translational research: The NIH undiagnosed diseases program experience

Links, A. E., Draper, D., Lee, E., Guzman, J., Valivullah, Z., Maduro, V., Lebedev, V., Didenko, M., Tomlin, G., Brudno, M., Girdea, M., Dumitriu, S., Haendel, M. A., Mungall, C. J., Smedley, D., Hochheiser, H., Arnold, A. M., Coessens, B., Verhoeven, S., Bone, W. & 4 others, Adams, D., Boerkoel, C. F., Gahl, W. A. & Sincan, M., 2016, In : Frontiers in Medicine. 3, OCT, 39.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Enhancing the human phenotype ontology for use by the layperson

Vasilevsky, N. A., Engelstad, M., Foster, E. D., Haendel, M., Mungall, C. J., Robinson, P. & Köhler, S., 2016, In : CEUR Workshop Proceedings. 1747

Research output: Contribution to journalArticle

Gold-standard ontology-based annotation of concepts in biomedical text in the CRAFT corpus: Updates and extensions

Bada, M., Hunter, L., Vasilevsky, N. & Haendel, M., 2016, In : CEUR Workshop Proceedings. 1747

Research output: Contribution to journalArticle

Muscle logic: New knowledge resource for anatomy enables comprehensive searches of the literature on the feeding muscles of mammals

Druzinsky, R. E., Balhoff, J. P., Crompton, A. W., Done, J., German, R. Z., Haendel, M. A., Herrel, A., Herring, S. W., Lapp, H., Mabee, P. M., Muller, H. M., Mungall, C. J., Sternberg, P. W., Van Auken, K., Vinyard, C. J., Williams, S. H. & Wall, C. E., Feb 2016, In : PloS one. 11, 2, e0149102.

Research output: Contribution to journalArticle

3 Scopus citations

Navigating the phenotype frontier: The monarch initiative

McMurry, J. A., Köhler, S., Washington, N. L., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., Foster, E., Gourdine, J. P., Jacobsen, J. O. B., Keith, D., Laraway, B., Xuan, J. N., Shefchek, K., Vasilevsky, N. A., Yuan, Z., Lewis, S. E. & 6 others, Hochheiser, H., Groza, T., Smedley, D., Robinson, P. N., Mungall, C. J. & Haendel, M. A., Aug 2016, In : Genetics. 203, 4, p. 1491-1495 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Proceedings of a Sickle Cell Disease Ontology workshop — Towards the first comprehensive ontology for Sickle Cell Disease

Mulder, N., Nembaware, V., Adekile, A., Anie, K. A., Inusa, B., Brown, B., Campbell, A., Chinenere, F., Chunda-Liyoka, C., Derebail, V. K., Geard, A., Ghedira, K., Hamilton, C. M., Hanchard, N. A., Haendel, M., Huggins, W., Ibrahim, M., Jupp, S., Kamga, K. K., Knight-Madden, J. & 17 others, Lopez-Sall, P., Mbiyavanga, M., Munube, D., Nirenberg, D., Nnodu, O., Ofori-Acquah, S. F., Ohene-Frempong, K., Opap, K. B., Panji, S., Park, M., Pule, G., Royal, C., Sangeda, R., Tayo, B., Treadwell, M., Tshilolo, L. & Wonkam, A., Mar 1 2016, In : Applied and Translational Genomics. 9, p. 23-29 7 p.

Research output: Contribution to journalArticle

7 Scopus citations