Research Output

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

8 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
1 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

Distinguishing case study as a research method from case reports as a publication type

Alpi, K. & Evans, J. J., Jan 1 2019, In : Journal of the Medical Library Association : JMLA. 107, 1, p. 1-5 5 p.

Research output: Contribution to journalEditorial

Open Access

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

1 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

4 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

60 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

13 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

4 Scopus citations

New models for human disease from the International Mouse Phenotyping Consortium

the International Mouse Phenotyping Consortium and the Monarch Initiative, Jun 1 2019, In : Mammalian Genome. 30, 5-6, p. 143-150 8 p.

Research output: Contribution to journalReview article

4 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

10 Scopus citations

Q/Does withholding an ACE inhibitor or ARB before surgery improve outcomes?

Jackman, R. & Hamilton, A., May 1 2019, In : Journal of Family Practice. 68, 4, p. 238-239 2 p.

Research output: Contribution to journalComment/debate

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

Screening for HIV Infection in Pregnant Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force

Selph, S., Bougatsos, C., Dana, T., Grusing, S. & Chou, R., Jun 18 2019, In : JAMA - Journal of the American Medical Association. 321, 23, p. 2349-2360 12 p.

Research output: Contribution to journalReview article

2 Scopus citations

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

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution

Taylor, D. M., Aronow, B. J., Tan, K., Bernt, K., Salomonis, N., Greene, C. S., Frolova, A., Henrickson, S. E., Wells, A., Pei, L., Jaiswal, J. K., Whitsett, J., Hamilton, K. E., MacParland, S. A., Kelsen, J., Heuckeroth, R. O., Potter, S. S., Vella, L. A., Terry, N. A., Ghanem, L. R. & 53 others, Kennedy, B. C., Helbig, I., Sullivan, K. E., Castelo-Soccio, L., Kreigstein, A., Herse, F., Nawijn, M. C., Koppelman, G. H., Haendel, M., Harris, N. L., Rokita, J. L., Zhang, Y., Regev, A., Rozenblatt-Rosen, O., Rood, J. E., Tickle, T. L., Vento-Tormo, R., Alimohamed, S., Lek, M., Mar, J. C., Loomes, K. M., Barrett, D. M., Uapinyoying, P., Beggs, A. H., Agrawal, P. B., Chen, Y. W., Muir, A. B., Garmire, L. X., Snapper, S. B., Nazarian, J., Seeholzer, S. H., Fazelinia, H., Singh, L. N., Faryabi, R. B., Raman, P., Dawany, N., Xie, H. M., Devkota, B., Diskin, S. J., Anderson, S. A., Rappaport, E. F., Peranteau, W., Wikenheiser-Brokamp, K. A., Teichmann, S., Wallace, D., Peng, T., Ding, Y. Y., Kim, M. S., Xing, Y., Kong, S. W., Bönnemann, C. G., Mandl, K. D. & White, P. S., Apr 8 2019, In : Developmental Cell. 49, 1, p. 10-29 20 p.

Research output: Contribution to journalReview article

Open Access
10 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

2 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

44 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

Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006))

Program for Undiagnosed Diseases (UD-PrOZA) & Undiagnosed Diseases Network, Sep 6 2018, In : American Journal of Human Genetics. 103, 3, 1 p.

Research output: Contribution to journalComment/debate

2 Scopus citations

Expanding the molecular glycophenotype ontology to include model organisms and acquired diseases

Gourdine, J. P., Vasilevsky, N., Winfree, L., Brush, M. & Haendel, M., Jan 1 2018, In : CEUR Workshop Proceedings. 2285

Research output: Contribution to journalConference article

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

11 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

2 Scopus citations

Plain-language medical vocabulary for precision diagnosis /692/700/478 /631/208/1516 correspondence

Vasilevsky, N. A., Foster, E. D., Engelstad, M. E., Carmody, L., Might, M., Chambers, C., Dawkins, H. J. S., Lewis, J., Della Rocca, M. G., Snyder, M., Boerkoel, C. F., Rath, A., Terry, S. F., Kent, A., Searle, B., Baynam, G., Jones, E., Gavin, P., Bamshad, M., Chong, J. & 13 others, Groza, T., Adams, D., Resnick, A. C., Heath, A. P., Mungall, C., Holm, I. A., Rageth, K., Brownstein, C. A., Shefchek, K., McMurry, J. A., Robinson, P. N., Köhler, S. & Haendel, M. A., Apr 1 2018, In : Nature genetics. 50, 4, p. 474-476 3 p.

Research output: Contribution to journalLetter

12 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

Veterinary medicine: All collections great and small

Carrigan, E., Ugaz, A., Moberly, H. K., Page, J., Alpi, K. M. & Vreeland, C. E., May 4 2018, Veterinary Science: Breakthroughs in Research and Practice. IGI Global, p. 344-366 23 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2017

Aligning the human phenotype and mammalian phenotype ontology using dead simple ontology design patterns

Vasilevsky, N., Balhoff, J. P., Mungall, C. J., Osumi-Sutherland, D., Kohler, S., Bello, S., Smith, C., Robinson, P. & Haendel, M., Jan 1 2017, In : CEUR Workshop Proceedings. 2137

Research output: Contribution to journalConference article

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

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Manolio, T. A., Fowler, D. M., Starita, L. M., Haendel, M. A., MacArthur, D. G., Biesecker, L. G., Worthey, E., Chisholm, R. L., Green, E. D., Jacob, H. J., McLeod, H. L., Roden, D., Rodriguez, L. L., Williams, M. S., Cooper, G. M., Cox, N. J., Herman, G. E., Kingsmore, S., Lo, C., Lutz, C. & 11 others, MacRae, C. A., Nussbaum, R. L., Ordovas, J. M., Ramos, E. M., Robinson, P. N., Rubinstein, W. S., Seidman, C., Stranger, B. E., Wang, H., Westerfield, M. & Bult, C., Mar 23 2017, In : Cell. 169, 1, p. 6-12 7 p.

Research output: Contribution to journalComment/debate

49 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., Grace Zhai, R. & Boerkoel, C. F., Jan 1 2017, In : Frontiers in Medicine. 4, MAY, 62.

Research output: Contribution to journalArticle

Open Access
9 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

74 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

31 Scopus citations

Improved diagnosis and care for rare diseases through implementation of precision public health framework

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L. & 39 others, Verhoef, H., Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., Jan 1 2017, Advances in Experimental Medicine and Biology. Springer New York LLC, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations
48 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

23 Scopus citations

Model organisms facilitate rare disease diagnosis and therapeutic research

Undiagnosed Diseases Network (UDN), Jan 1 2017, In : Genetics. 207, 1, p. 9-27 19 p.

Research output: Contribution to journalReview article

48 Scopus citations

Nonpharmacologic therapies for low back pain: A systematic review for an American College of physicians clinical practice guideline

Chou, R., Deyo, R., Friedly, J., Skelly, A., Hashimoto, R., Weimer, M., Fu, R., Dana, T., Kraegel, P., Griffin, J., Grusing, S. & Brodt, E. D., Apr 4 2017, In : Annals of Internal Medicine. 166, 7, p. 493-505 13 p.

Research output: Contribution to journalReview article

146 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. E., Jan 1 2017, In : PeerJ. 2017, 4, e3208.

Research output: Contribution to journalArticle

22 Scopus citations

Systemic pharmacologic therapies for low back pain: A systematic review for an American College of physicians clinical practice guideline

Chou, R., Deyo, R. R., Friedly, J., Skelly, A., Weimer, M., Fu, R. R., Dana, T., Kraegel, P., Griffin, J. & Grusing, S., Apr 4 2017, In : Annals of Internal Medicine. 166, 7, p. 480-492 13 p.

Research output: Contribution to journalReview article

87 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

316 Scopus citations