Stoler, Joan M.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

Bupropion in pregnancy and the prevalence of congenital malformations

Cole, J. A., Modell, J. G., Haight, B. R., Cosmatos, I. S., Stoler, J. M., & Walker, A. M. (2007) · Pharmacoepidemiology and Drug Safety

Pregnancy and Medication ImpactPharmacological Effects and Toxicity Studies

Cited by 149

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

Cited by 140

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, J., Picker, J., Zheng, Z., Zhang, X., Wang, J., Hisama, F., Brown, D. W., Mullen, M. P., Harris, D., Stoler, J., et al. (2014) · BMC Genomics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 93

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

Stern, C. M., Pepin, M. J., Stoler, J. M., Kramer, D. E., Spencer, S. A., & Stein, C. J. (2017) · The Journal of Pediatrics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 56

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 52

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27