Unger, Sheila
for the Polymicrogyria Genetics Research Network
7 papers on CoChatORCID 0000-0002-9539-8941
Most cited papers
- Verified
Nosology and classification of genetic skeletal disorders: 2019 revision
Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 600
- Verified
Nosology and classification of genetic skeletal disorders: 2015 revision
Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 569
- Verified
The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways
Fukada, T., Civic, N., Furuichi, T., Shimoda, S., Mishima, K., Higashiyama, H., Idaira, Y., Asada, Y., Kitamura, H., Yamasaki, S., et al. (2008) · PLoS ONE
Trace Elements in HealthConnective tissue disorders research
Cited by 287
- Verified
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics
Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research
Cited by 164
- Verified
Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., Kiviranta, R., Solban, N., Liu, J., Brommage, R., et al. (2016) · New England Journal of Medicine
Bone health and osteoporosis researchBone Metabolism and Diseases
Cited by 151
- Verified
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics
Proteoglycans and glycosaminoglycans researchConnective tissue disorders research
Cited by 137
- Verified
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology
Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases
Cited by 37
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