Grebe, Theresa
University of Southern Denmark · Maastricht University Medical Centre · Filadelfia · ERN EpiCARE
5 papers on CoChat
Most cited papers
- Verified
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics
Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms
Cited by 625
- Verified
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics
Williams Syndrome ResearchGenomic variations and chromosomal abnormalities
Cited by 344
- Verified
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A
Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders
Cited by 138
- Verified
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., et al. (2016) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 114
- Verified
PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics
Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders
Cited by 53
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