JohnBernatMD

Medical Genetics • Iowa City, IA

Clinical Genetics, Clinical Molecular Genetics

Physician

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Office
200 Hawkins Dr
Dept Of Pediatrics
Iowa City, IA 52242
Phone+1 319-356-2675

Fax+1 319-356-3347
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Summary

Dr. John Bernat, MD is a board certified medical geneticist in Iowa City, Iowa. He is currently licensed to practice medicine in Iowa and Michigan. He is affiliated with University of Iowa Hospitals and Clinics.

Education & Training

University of Michigan Health SystemResidency, Medical Genetics and Genomics, 2012 - 2014
University of Michigan Health SystemResidency, Pediatrics, 2009 - 2012
University of Michigan Medical SchoolClass of 2009

Certifications & Licensure

IA State Medical License 2015 - 2024
MI State Medical License 2009 - 2016
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics

Publications & Presentations

PubMed

4 citations
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Derralynn Hughes, Derlis Gonzalez, Gustavo Maegawa, John A Bernat, Myrl Holida, Pilar Giraldo, Mohamed G Atta, Raul Chertkoff, Sari Alon, Einat Brill Almon, Rossana Ro...> ;Genetics in Medicine. 2023 Dec 1
17 citations
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, Nicola Longo, T Andrew Burrow, John A Bernat, Punita Gupta, Nadene Henderson, Helio Pedro, Carlos E Prada, Divya V...> ;Molecular Genetics and Metabolism. 2022 May 1
3 citations
Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.
Lisa Dillon Bell, John A Bernat, Riad Rahhal> ;Gastroenterology Research. 2022 Feb 1
4 citations
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R. Lemke, John A. Bernat, Hannah Bombei, Nicola...> ;Human Molecular Genetics. 2021 Sep 9
16 citations
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)
Amy Nisselle, Monika Janinski, Melissa Martyn, Belinda J McClaren, Nadia Kaunein, Kristine Barlow-Stewart, Andrea Belcher, John A. Bernat, Stephanie Best, Michelle Bis...> ;Genetics in Medicine. 2021 Apr 6
2 citations
Presacral neuroendocrine tumors associated with the Currarino syndrome
Aaron T. Scott, Jonathon B. Tessmann, Terry A. Braun, Bartley Brown, Patrick Breheny, Benjamin W. Darbro, Andrew M. Bellizzi, Joseph S. Dillon, Thomas M. O'Dorisio, Al...> ;American Journal of Medical Genetics. Part A. 2021 Mar 1
Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings.
Kasra Zarei, John A. Bernat, Yutaka Sato, Rachel Segal, Guru Bhoojhawon> ;Case Reports in Pediatrics. 2020 Nov 24
12 citations
Genotype–phenotype correlation at codon 1740 of SETD2
Rachel Rabin, Alireza Radmanesh, Ian A. Glass, William B. Dobyns, Kimberly A. Aldinger, Joseph T. Shieh, Shelby Romoser, Hannah Bombei, Leah Dowsett, Pamela Trapane, J...> ;American Journal of Medical Genetics. Part A. 2020 Jul 24
22 citations
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Mark N. Ziats, Ayesha Ahmad, John A. Bernat, Rachel Fisher, Megan Glassford, Mark C. Hannibal, Joseph E. Jacher, Natasha E. Weiser, Catherine E. Keegan, Kristen N. Lee...> ;Pediatric Research. 2020 Mar 1
8 citations
Niemann-Pick disease type C presenting as very early onset inflammatory bowel disease.
Chinenye R. Dike, John A. Bernat, Warren P. Bishop, Catherine DeGeeter> ;BMJ Case Reports. 2019 Jul 27
33 citations
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
Amanda Moccia, Anshika Srivastava, Jennifer M. Skidmore, John A. Bernat, Marsha M. Wheeler, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Margaret A. Hef...> ;Genetics in Medicine. 2018 Jan 4
36 citations
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P....> ;American Journal of Human Genetics. 2017 Jul 6
5 citations
Interstitial lung disease of infancy caused by a new NKX2-1 mutation.
Khalid H. Safi, John A. Bernat, Catherine E. Keegan, Ayesha Ahmad, Marc B. Hershenson, Manuel Arteta> ;Clinical Case Reports. 2017 Apr 4
37 citations
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Kacie N. Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Rachel D. Burnside, Jeffrey W. Innis, M. Katharine Rudd> ;American Journal of Medical Genetics. Part A. 2015 Nov 1
35 citations
Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malforma...
Mark W. Russell, Maide Ö. Raeker, Sarah B. Geisler, Peedikayil E. Thomas, Tracy A. Simmons, John A. Bernat, Thor Thorsson, Jeffrey W. Innis> ;Human Molecular Genetics. 2014 Aug 15
30 citations
Breast fibroadenomas in the pediatric population: common and uncommon sonographic findings.
Ramon Sanchez, Maria Ladino-Torres, John A. Bernat, Annette I. Joe, Michael A. DiPietro> ;Pediatric Radiology. 2010 May 7
17 citations
Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs
John A. Bernat, Gregory E. Crawford, Aleksey Y. Ogurtsov, Francis S. Collins, David Ginsburg, Alexey S. Kondrashov> ;Human Molecular Genetics. 2006 Jul 1
349 citations
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)
Gregory E. Crawford, Ingeborg Holt, James R R Whittle, Bryn D. Webb, Denise Tai, Sean Davis, Elliott H. Margulies, Yi Chen, John A. Bernat, David Ginsburg, Daixing Zho...> ;Genome Research. 2006 Jan 1
231 citations
Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
Bin Zhang, Michael A. Cunningham, William C. Nichols, John A. Bernat, Uri Seligsohn, Steven W. Pipe, John H. McVey, Ursula Schulte-Overberg, Norma B. de Bosch, Arlette...> ;Nature Genetics. 2003 Jun 1
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Hospital Affiliations

University of Iowa Hospitals and ClinicsIowa City, Iowa