Gahl, William A.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 359

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 291

Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells

Paull, D., Sevilla, A., Zhou, H., Hahn, A. K., Kim, H., Napolitano, C., Tsankov, A., Shang, L., Krumholz, K., Jagadeesan, P., et al. (2015) · Nature Methods

Pluripotent Stem Cells ResearchCRISPR and Genetic Engineering

Cited by 263

Sialin ( SLC17A5 ) functions as a nitrate transporter in the plasma membrane

Qin, L., Liu, X., Sun, Q., Fan, Z., Xia, D., Ding, G., Ong, H. L., Adams, D., Gahl, W. A., Zheng, C., et al. (2012) · Proceedings of the National Academy of Sciences

Ion Transport and Channel RegulationSalivary Gland Disorders and Functions

Cited by 216

The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension

Gahl, W. A., Wise, A. L., & Ashley, E. A. (2015) · JAMA

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 114

Intracellular Distribution of Lysosomal Sialidase Is Controlled by the Internalization Signal in Its Cytoplasmic Tail

Lukong, K. E., Seyrantepe, V., Landry, K., Trudel, S., Ahmad, A., Gahl, W. A., Lefrancois, S., Morales, C. R., & Pshezhetsky, A. V. (2001) · Journal of Biological Chemistry

Cellular transport and secretionGlycosylation and Glycoproteins Research

Cited by 109

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Rootwelt, H., Chou, J., Gahl, W. A., Berger, R., Coşkun, T., Brodtkorb, E., & Kvittingen, E. A. (1994) · Human Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 23