Klee, Eric W.

Maple syrup urine disease: mechanisms and management

Blackburn, P., Gass, J., Pinto e Vairo, F., Farnham, K., Atwal, H., Macklin, S., Klee, E., & Atwal, P. (2017) · The Application of Clinical Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 280

Genome-wide detection of tandem DNA repeats that are expanded in autism

Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

Genomic and phenotypic characterization of a broad panel of patient-derived xenografts reflects the diversity of glioblastoma

Vaubel, R. A., Tian, S., Remonde, D., Schroeder, M. A., Mladek, A. C., Kitange, G. J., Caron, A., Kollmeyer, T. M., Grove, R., Peng, S., et al. (2020) · Clinical Cancer Research

Glioma Diagnosis and TreatmentCancer Genomics and Diagnostics

Cited by 227

Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome

Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., et al. (2018) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 176

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A

dental development and anomaliesHearing, Cochlea, Tinnitus, Genetics

Cited by 20

Variants in DOCK3 cause developmental delay and hypotonia

Wiltrout, K., Ferrer, A., van de Laar, I., Namekata, K., Harada, T., Klee, E. W., Zimmerman, M. T., Cousin, M. A., Kempainen, J. L., Babovic-Vuksanovic, D., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 17

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., et al. (2021) · Brain Sciences

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 14