John Bernat, MD, PhD
Clinical Associate Professor
Current Positions
- Clinical Associate Professor, Stead Family Department of Pediatrics, Division of Medical Genetics & Genomics
- Associate Director of Molecular Testing
- Assistant Program Director, Medical Genetics and Genomics Residency Program
Education
- BA in Biochemistry and Molecular Biology, Washington University in St. Louis, St Louis, Missouri
- MD in Distinction in Research, University of Michigan, Ann Arbor, Michigan
- PhD in Human Genetics, University of Michigan, Ann Arbor, Michigan
- Resident in Pediatrics, University of Michigan Hospitals and Health Centers, Ann Arbor, Michigan
- Resident in Medical Genetics, University of Michigan Hospitals and Health Centers, Ann Arbor, Michigan
- Fellow in Clinical Molecular Genetics, University of Michigan, Ann Arbor, Michigan
Research Interests
- Hunter Outcome Survey, Shire
- Multicenter phenotype-genotype analysis of vascular overgrowth syndromes
- BRIGHT study, Protalix BioTherapeutics
- PRX-102 Extension Study
- Positional cloning of a second locus responsible for Combined Deficiency of Factor V and Factor VIII, an inherited human bleeding disorder
- BALANCE Study
- Creation of cDNA constructs to study alternatively-spliced forms of the human ATP7A gene, implicated in Menkes syndrome
- Natural history of cardiac disease in Fabry disease patients
- Characterization of Drosophila heterochromatin proteins 1 and 2
Licenses & Certifications
- Board Certified, Clinical Molecular Genetics, American Board of Medical Genetics and Genomics
- Board Certified, Clinical Genetics, American Board of Medical Genetics and Genomics
- Physician License, Iowa Board of Medicine
- Board Certified, Pediatrics, American Board of Pediatrics
- Physician License, Michigan Board of Medicine
Selected Publications
- Jordan, V. K., Fregeau, B., Ge, X., Giordano, J., Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., Pappas, J., Svoboda, M., Rio, M., Boddaert, N., Cantagrel, V., Lewis, A. M., Scaglia, F., , Kohler, J. N., Bernstein, J. A., Dries, A. M., Rosenfeld, J. A., DeFilippo, C., Thorson, W., Yang, Y., Sherr, E. H., Bi, W. & Scott, D. A. (2018). Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. DOI: 10.1002/humu.23400. PMID: 29330883. PMCID: PMC5903952.
- Moccia, A., Srivastava, A., Skidmore, J., Bernat, J. A., Wheeler, M., Chong, J. X., Nickerson, D., Bamshad, M., Hefner, M. A., Martin, D. M. & Bielas, S. L. (2018). Genetic analysis of CHARGE syndrome identities overlapping molecular biology. Genetics in Medicine. PMID: 29300383.
- Safi, K. H., Bernat, J. A., Keegan, C. E., Ahmad, A., Hershenson, M. B. & Arteta, M. (2017). Interstitial lung disease of infancy caused by a new NKX2-1 mutation. Clinical Case Reports 5 (6) 739-43. PMID: 28588801. PMCID: PMC5458033.
- Bernat, J. A., Hershenson, M. B., Innis, J. W. & Tayeh, M. K. (2017). Compound heterozygosity for CFRT Phe508del/Pro750Leu in two siblings with normal sweat chloride, lung function, growth, and fecal elastase. Journal of Pulmonary and Respiratory Medicine 3 (010).
- Riley, K. N., Catalano, L. M., Bernat, J. A., Adams, S. D., Martin, D. M., Lalani, S. R., Patel, A., Burnside, R. D., Innis, J. W. & Rudd, M. K. (2015). Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. American journal of medical genetics. Part A 167A (11) 2664-73. DOI: 10.1002/ajmg.a.37269. PMID: 26227573.
- Russell, M. W., Raeker, M. O., Geisler, S. B., Thomas, P. E., Simmons, T. A., Bernat, J. A., Thorsson, T. & Innis, J. W. (2014). Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations. Human molecular genetics 23 (16) 4272-84. DOI: 10.1093/hmg/ddu144. PMID: 24694933.
- Sanchez, R., Ladino-Torres, M. F., Bernat, J. A., Joe, A. & DiPietro, M. A. (2010). Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings. Pediatric radiology 40 (10) 1681-9. DOI: 10.1007/s00247-010-1678-7. PMID: 20449731.
- Bernat, J. A., Crawford, G. E., Ogurtsov, A. Y., Collins, F. S., Ginsburg, D. & Kondrashov, A. S. (2006). Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. Human molecular genetics 15 (13) 2098-105. DOI: 10.1093/hmg/ddl133. PMID: 16723375.
- Crawford, G. E., Holt, I. E., Whittle, J., Webb, B. D., Tai, D., Davis, S., Margulies, E. H., Chen, Y., Bernat, J. A., Ginsburg, D., Zhou, D., Luo, S., Vasicek, T. J., Daly, M. J., Wolfsberg, T. G. & Collins, F. S. (2006). Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome research 16 (1) 123-31. DOI: 10.1101/gr.4074106. PMID: 16344561.
- Zhang, B., Cunningham, M. A., Nichols, W. C., Bernat, J. A., Seligsohn, U., Pipe, S. W., McVey, J. H., Schulte-Overberg, U., de Bosch, N. B., Ruiz-Saez, A., White, G. C., Tuddenham, E. G., Kaufman, R. J. & Ginsburg, D. (2003). Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nature genetics 34 (2) 220-5. DOI: 10.1038/ng1153. PMID: 12717434.