James Gibson, MD, PhD

Clinical Assistant Professor

1977 …2019
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Fingerprint Dive into the research topics where James Gibson is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Galactose Medicine & Life Sciences
Synaptonemal Complex Medicine & Life Sciences
Galactosemias Medicine & Life Sciences
Mutation Medicine & Life Sciences
Citrullinemia Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Erythrocytes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 1977 2019

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

on behalf of the Pompe ADVANCE Study Consortium, Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2543-2551 9 p.

Research output: Contribution to journalArticle

Open Access
Glycogen Storage Disease Type II
Genotype
Datasets
Respiratory Function Tests
History

Correction: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome (Genome Medicine (2019) 11 (12) DOI: 10.1186/s13073-019-0623-0)

Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E. A. & 37 others, Wierenga, K. J., Scott, D. A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Lloyd Holder, J., Burrage, L. C., Seaver, L. H., Van Maldergem, L., Mahida, S., Soul, J. S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J. A., Park, S. M., Varghese, V., Lampe, A. K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., Muzny, D. M., Gibbs, R. A., Elsea, S. H., Posey, J. E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C. M., Lupski, J. R. & Liu, P., Mar 25 2019, In : Genome Medicine. 11, 1, 16.

Research output: Contribution to journalComment/debate

Open Access
Smith-Magenis Syndrome
Muscle Hypotonia
Intellectual Disability
Medicine
Genome
3 Citations (Scopus)

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E. A. & 37 others, Wierenga, K. J., Scott, D. A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J. L., Burrage, L. C., Seaver, L. H., Van Maldergem, L., Mahida, S., Soul, J. S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J. A., Park, S. M., Varghese, V., Lampe, A. K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., Muzny, D. M., Gibbs, R. A., Elsea, S. H., Posey, J. E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C. M., Lupski, J. R. & Liu, P., Feb 28 2019, In : Genome Medicine. 11, 1, 12.

Research output: Contribution to journalArticle

Open Access
Smith-Magenis Syndrome
Muscle Hypotonia
Intellectual Disability
Parents
Alleles

Hyperammonemia from ureaplasma infection in an immunocompromised child

Placone, N., Kao, R. L., Kempert, P., Ruiz, M. E., Casillas, J. N., Okada, M., Gibson, J. B., Maggi, C., O'Brien, K., Nattiv, R., Gallant, N. M. & Abrams, S. H., Jan 1 2019, In : Journal of Pediatric Hematology/Oncology.

Research output: Contribution to journalArticle

Ureaplasma Infections
Hyperammonemia
Immunocompromised Host
Azithromycin
Doxycycline
1 Citation (Scopus)

Nonleaking cystoid macular edema in Cohen syndrome

Beck, K. D., Wong, R. W., Gibson, J. B. & Harper, C. A., Feb 2019, In : Journal of AAPOS. 23, 1, p. 38-39.e1

Research output: Contribution to journalArticle

Muscle Hypotonia
Macular Edema
Genetic Testing
Neutropenia
Intellectual Disability