HenryJoelMroczkowskiMD

PubMed

• Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
  Anjana Chandrasekhar, Henry J Mroczkowski, Nora Urraca, Andrew Gross, Krista Bluske, Erin Thorpe, R Tanner Hagelstrom, Steven A Schonberg, Denise L Perry, Ryan J Taft,...> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
• 4 citations
  A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
  Rishika P Sakaria, Megan P Fonville, Silpa Peravali, Parul G Zaveri, Henry J Mroczkowski, Elena Caron, Mark F Weems> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• 72 citations
  Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
  Ian D. Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen P. Fishler, Omar A. Abdul-Ra...> ;JAMA Pediatrics. 2021 Sep 27
• 3 citations
  Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
  Abbe N. Vallejo, Henry J. Mroczkowski, Joshua Michel, Michael Woolford, Harry C. Blair, Patricia Griffin, Elizabeth McCracken, Stephanie J. Mihalik, Miguel Reyes-Múgic...> ;Clinical & Translational Immunology. 2021 Jan 1
• 12 citations
  Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
  Henry J. Mroczkowski, Georgianne L. Arnold, Francis X. Schneck, Aleksandar Rajkovic, Svetlana A. Yatsenko> ;American Journal of Medical Genetics. Part A. 2014 Oct 1
• 1 citations
  Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome
  Allison Buterbaugh, Henry J Mroczkowski, Suma P. Shankar, Jeannie Visootsak> ;Annals of Paediatric Rheumatology. 2013 Apr 1
• Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22.
  Parsons, C. A., Mroczkowski, H. J., McGuigan, F. E., Albagha, O. M., Manolagas, S., Reid, D. M., Ralston, S. H., Shmookler Reis, R. J.> ;Hum Mol Genet. 2005 Nov 1
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