Friedman, Jan M.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 2,882

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,815

Clinical and genetic aspects of neurofibromatosis 1

Jett, K., & Friedman, J. M. (2010) · Genetics in Medicine

Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and Treatments

Cited by 501

Use of Selective Serotonin-Reuptake Inhibitors in Pregnancy and the Risk of Birth Defects

Alwan, S., Reefhuis, J., Rasmussen, S. A., Olney, R. S., & Friedman, J. M. (2007) · New England Journal of Medicine

Pregnancy and Medication ImpactPharmacological Effects and Toxicity Studies

Cited by 495

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 281

Specific SSRIs and birth defects: bayesian analysis to interpret new data in the context of previous reports

Reefhuis, J., Devine, O., Friedman, J. M., Louik, C., & Honein, M. A. (2015) · BMJ

Pregnancy and Medication ImpactPharmacological Effects and Toxicity Studies

Cited by 161

Patterns of antidepressant medication use among pregnant women in a United States population

Alwan, S., Reefhuis, J., Rasmussen, S. A., Friedman, J. M., & Study, N. B. D. P. (2011) · The Journal of Clinical Pharmacology

Pregnancy and Medication ImpactMaternal Mental Health During Pregnancy and Postpartum

Cited by 149

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., et al. (1988) · The Journal of Pediatrics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 133

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

Tucker, T., Friedman, J. M., Friedrich, R. E., Wenzel, R., Fünsterer, C., & Mautner, V.-F. (2009) · Journal of Medical Genetics

Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and Treatments

Cited by 122

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., & Knoppers, B. M. (2019) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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