Eric W Klee

EmailKlee.Ericmayoedu

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175 Article
15 Review article
10 Comment/debate
9 Letter
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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Rajan, D. S., Kour, S., Fortuna, T. R., Cousin, M. A., Barnett, S. S., Niu, Z., Babovic-Vuksanovic, D., Klee, E. W., Kirmse, B., Innes, M., Rydning, S. L., Selmer, K. K., Vigeland, M. D., Erichsen, A. K., Nemeth, A. H., Millan, F., DeVile, C., Fawcett, K., Legendre, A., Sims, D., & 10 othersSchnekenberg, R. P., Burglen, L., Mercier, S., Bakhtiari, S., Martinez-Salas, E., Wigby, K., Lenberg, J., Friedman, J. R., Kruer, M. C. & Pandey, U. B., Feb 28 2022, In: Frontiers in Cell and Developmental Biology. 10, 783762.
Research output: Contribution to journal › Article › peer-review

Open Access
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Safgren, S. L., Olson, R. J., Pinto e Vairo, F., Bothun, E. D., Hanna, C., Klee, E. W. & Schimmenti, L. A., Mar 2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 919-925 7 p.
Research output: Contribution to journal › Article › peer-review
Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations
Tian, S., Tu, Z. J., Yan, H. D. & Klee, E. W., Mar 31 2022, In: Frontiers in Genetics. 13, 896032.
Research output: Contribution to journal › Editorial › peer-review

Open Access
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome
Macke, E. L., Morales-Rosado, J. A., Macklin-Mantia, S. K., Schmitz, C. T., Oskarsson, B., Klee, E. W. & Wierenga, K. J., Jul 2022, In: Molecular Genetics and Genomic Medicine. 10, 7, e1966.
Research output: Contribution to journal › Article › peer-review

Open Access
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., & 51 othersGavrilova, R. H., Graham, J. M., Haack, T. B., Juusola, J., Kant, S. G., Kayani, S., Keren, B., Ketteler, P., Klöckner, C., Koopmann, T. T., Kruisselbrink, T. M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R. R., Leduc, M. S., Leonardi, E., Lewis, A. M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C. K., Guillen Sacoto, M. J., Scaglia, F., Shinawi, M., Spranger, S., Tan, E. S., Taylor, J., Trentesaux, A. S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R. A., Babovic-Vuksanovic, D., Zimmermann, M. T., Mathie, A. & Klee, E. W., Dec 2022, In: Genome medicine. 14, 1, 62.
Research output: Contribution to journal › Article › peer-review

Open Access

Eric W Klee, PhD

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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype

Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Eric W Klee, PhD

Fingerprint

Network

Research output

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype

Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome