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Positions

Pediatric Genetic Counselor

Baylor College of Medicine

Selected Publications

• Barriers to a successful healthcare transition for individuals with urea cycle disorders " ;
  Pubmed PMID: 37245377.
• RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation " ;
  Pubmed PMID: 37924809.
• Epigenetic activation of SOX11 is associated with recurrence and progression of ductal carcinoma in situ to invasive breast cancer " ;
  Pubmed PMID: 38760444.
• Evaluating Parental Perception and Confidence Managing Obesity-Related Behaviors Among Children with Severe Early-Onset Obesity in a Tertiary Care Clinic " ;
  Pubmed PMID: 40331337.
• Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders " ;
  Pubmed PMID: 40859057.
• Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism " ;
  Pubmed PMID: 40838347.

Memberships

National Society of Genetic Counselors

Texas Society of Genetic Counselors