Richtsmeier, Joan T.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

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A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21.

Kazuki, Y., Gao, F. J., Li, Y., Moyer, A. J., Devenney, B., Hiramatsu, K., Miyagawa-Tomita, S., Abe, S., Kazuki, K., Kajitani, N., et al. (2020) · eLife

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 125

Relationship of brain and skull in pre- and postoperative sagittal synostosis

Aldridge, K., Kane, A. A., Marsh, J. L., Yan, P., Govier, D., & Richtsmeier, J. T. (2005) · Journal of Anatomy

Craniofacial Disorders and TreatmentsMorphological variations and asymmetry

Cited by 83

Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice

Starbuck, J. M., Dutka, T., Ratliff, T. S., Reeves, R. H., & Richtsmeier, J. T. (2014) · American Journal of Medical Genetics Part A

Down syndrome and intellectual disability researchCraniofacial Disorders and Treatments

Cited by 50

A transchromosomic rat model with human chromosome 21 shows robust down syndrome features.

Kazuki, Y., Gao, F. J., Yamakawa, M., Hirabayashi, M., Kazuki, K., Kajitani, N., Miyagawa-Tomita, S., Abe, S., Sanbo, M., Hara, H., et al. (2022) · The American Journal of Human Genetics

Down syndrome and intellectual disability researchWilliams Syndrome Research

Cited by 41

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

Ye, X., Guilmatre, A., Reva, B., Peter, I., Heuzé, Y., Richtsmeier, J. T., Fox, D. J., Goedken, R. J., Jabs, E. W., & Romitti, P. A. (2016) · Plastic and Reconstructive Surgery

Craniofacial Disorders and Treatmentsdental development and anomalies

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Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Heuzé, Y., Martínez‐Abadías, N., Stella, J. M., Arnaud, E., Collet, C., García Fructuoso, G., Alamar, M., Lo, L., Boyadjiev, S. A., Di Rocco, F., et al. (2014) · Birth Defects Research Part A Clinical and Molecular Teratology

Craniofacial Disorders and TreatmentsMorphological variations and asymmetry

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Cartilage Segmentation in High-Resolution 3D Micro-CT Images via Uncertainty-Guided Self-training with Very Sparse Annotation

Zheng, H., Motch Perrine, S. M., Pitirri, M. K., Kawasaki, K., Wang, C., Richtsmeier, J. T., & Chen, D. Z. (2020) · Lecture Notes in Computer Science

Medical Image Segmentation TechniquesMedical Imaging and Analysis

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