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Recent Publications by Our Residents

Publications (2014 - present)


  • Rojnueangnit K, Jones JR, Basehore MJ, Robin NH (2014). Classic Phenotype of Coffin-Lowry Syndrome in a Female with Stimulus- Induced Drop Episodes and a Genotype with Preserved N-terminal Kinase Domain. Am J Med Genet A. 164:516-21.
  • Hamm JA, Mikhail FM, Hollenbeck D, Farmer M, Robin NH (2014). Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization. J Peds.165(5):1057-9
  • Hamm JA, Robin NH (2015). Newborn craniofacial malformations: orofacial clefting and craniosynostosis. Clin Perinat.42: 321-336.
  • Robin NH, Hamm JA (2015). Commentary on “Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome.” Year Book of Pediatrics.
  • Hightower H Robin NH (2015). Array Comparative Genomic Hybridization Testing in Congenital Heart Disease. Cardiol Young. 2014 Oct 8:1-18.
  • Rojnueangnit K, Mikhail FM, Cui X, YuS, Robin NH (2015). Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients with Cleft Lip and/or Palate.
  • Rodriguez-Buritica D, Rojnueangnit K, Messiaen LM, Mikhail FM, Robin NH (2015). Sex-discordant monochorionic twins with blood and tissue chimerism. Am J Med Genet A. 167:872-7
  • Cuddapah S, Kominek S, Grant JH, Robin NH (2015). IRF6 Sequencing in Interrupted Clefting. Cleft Pal Craniofac J.
  • Subramaniam A, Jacobs AP, Tang Y, Neely C, Philips JB Biggio JR, Robin NH, Edwards RK (2016). Trisomy 18: A review of prenatal care, delivery, and neonatal outcomes over the past decade. Am J Med Genet (In Press).
  • Jacobs AP, Subramaniam A, Philips JB, Biggio JR, Edwards RK, Robin NH. Trisomy 18: A Survey of Opinions, Attitudes, and Practices of Maternal-Fetal Medicine Specialists, Neonatologists, and Geneticists (In Press).
  • Lan He, Hamm JA, Reddy A, Sams D, Peliciari-Garcia R, McGinnis G, Bailey S, Chow CW, Rowe G, Chatham J, and Young M (2016). Biotinylation: A Novel Posttranslational Modification Linking Cell Autonomous Circadian Clocks with Metabolism.  Submitted for publication, 2016.
  • Hamm JA, Nichols M, Robin NH. Medical Genetics Education in Pediatric Training Programs: Program Directors’ Opinions. Submitted for publication, 2016.
  • Hamm JA, Abdul-Latif, H, Descartes M. A Novel GATA6 Mutation Associated with Congenital Heart Disease, Intestinal Malrotation, and Agenesis of the Pancreas and Gallbladder. Am Col Med Genet annual mtg. Salt Lake City, UT. 2015. (321)
  • Hamm JA, McGinnis GR, Young ME.  Identification of a Novel Mechanism for Circadian Clock Regulation of Cellular Metabolism.  The University of Alabama at Birmingham Trainee Research Symposium.  Birmingham, AL. March 4, 2015.
  • Hamm JA, Farmer M, Hollenbeck D, Descartes M, Mikhail FM, and Robin NH (2014). Copy Number Variations Involving Cancer Predisposition Genes Incidentally Detected by Array Comparative Genomic Hybridization (aCGH): A Case Report and Review of 3,415 aCGH Results. Am Col Med Genet annual mtg. Nashville, TN. 2014. (176).
  • Cuddapah SR, Kominek S, Grant JH, Robin NH (2015). IRF6 Sequencing in Interrupted Clefting. Cleft Palate Craniofacial Journal [Epub ahead of print]. PMID: 26090788.
  • Poster:
    Cuddapah SR, Kominek S, Subramaniam A, Grant JH, Robin NH. A Rare Type of Interrupted Clefting. American College of Medical Genetics Annual Meeting; March 2014, Nashville, TN.

Presentations (2014 - present)


  • Sutton AL, Durst JK, Biggio JR, and Harper LM.  Non-invasive prenatal testing for trisomy 21 in high-risk women:  a cost-effectiveness analysis. Poster presentation, Society of Maternal Fetal Medicine 34th Annual Meeting, February 3-8, 2014.
  • Durst JK, Sutton AL, Harper LM, and Biggio JR.  A cost-effective analysis of non-invasive prenatal testing for trisomy 21 in low-risk women. Poster presentation, Society of Maternal Fetal Medicine 34th Annual Meeting, February 3-8, 2014.
  • Hurst ACE, Robin NH. “Segmental overgrowth with a somatic PIK3CA mutation and low-level mosaic loss of methylation at IC2.” Southeastern Regional Genetics Group – Annual Meeting; 2015 July; Asheville, NC.
  • Subramaniam A, Jacobs AP, Tang Y, Neely, C, Philips JB, Biggio JR, Robin NH, Edwards RK. Trisomy 18: A review of prenatal care, delivery, and neonatal outcomes over the past decade. Presented at the ACMG Annual Clinical Genetics Meeting 2015 (Salt Lake City, UT)   

Poster Presentations (2014 - present)


  • Hurst ACE, Williams CL, Nelson KR, Robin NH. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL. Nevoid basal cell carcinoma syndrome with nystagmus and immobile first digit interphalangeal joints: Expanding the phenotype of PTCH1 duplications. American College of Medical Genetics – Annual Meeting; 2015 March; Salt Lake City, Utah.
  • Jacobs AP, Subramaniam A, Philips JB, Biggio JR, Edwards RK, Robin NH. Trisomy 18: A survey of opinions, attitudes, and practices of maternal-fetal medicine specialists, neonatologists, and geneticist. Poster presentation at the 2015 ACMG Annual Clinical Genetics Meeting, March 24-28, Salt Lake City, UT
  • Robin NH, Cramer S, Subramaniam A. A unique case of transient myeloproliferative disease associated with Trisomy 21. Poster presentation at the 2015 ACMG Annual Clinical Genetics Meeting, March 24-28, Salt Lake City, UT
  • Hurst ACE, Descartes M. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL. Peroxisomal Biogenesis Disorder and Congenital Contractural Arachnodactyly: When dysmorphic features deserve a closer look. American College of Medical Genetics – Annual Meeting; 2016 March; Tampa, FL.
  • Silverburg M, Hurst ACE, Phillips JB. Beckwith-Wiedemann Syndrome and 2q37 Microdeletion Syndrome due to a paternally inherited unbalanced 2;11 translocation. Southern Society for Pediatric Research – Annual Meeting; 2016 February; New Orleans, LA. (Mentored pediatric resident.) 
  • Hamm JA, Nichols M, Robin NH. Medical Genetics Education in Pediatric Training Programs: Program Directors’ Opinions. Southern Society for Clinical Investigation Regional Meeting 2016.  New Orleans, LA.
  • Hamm JA, Descartes M, Feig DI. Report of Congenital Nephrotic Syndrome Associated with Hyperammonemia. ACMG 2016. Tampa, FL.