Division of Pediatric Medical Genetics

The Molecular Cytogenomics Laboratory offers a comprehensive menu of tests, including:

• Chromosomal microarray analysis
• Fluorescence in-situ hybridization
• Chromosome analyses
  • Amniotic fluid
  • Products of conception
  • Peripheral blood
  • Bone marrow
  • Lymph nodes
  • Solid tumors

The lab also provides cytogenetic rotations for pathology, pediatric residents and oncology fellows, as well as exploration venues for undergraduate students. 

The General Genetics Clinic provides evaluation, diagnostic testing and genetic counseling for the following:

• Suspected or recognized genetic conditions
• Birth defects
• Developmental/intellectual disabilities
• Multisystem medical problems
• Dysmorphic features
• Growth abnormalities
• Fetal alcohol syndrome
• Early-onset hearing or vision loss
• Ambiguous genitalia
• Neuromuscular disorders
• Skeletal dysplasia

The Metabolic Genetic Clinic provides testing, evaluation, counseling and dietary management for patients with metabolic disorders — many of which were identified through the Missouri and Illinois newborn screening programs. Conditions include:

• Amino acid disorders
• Biotinidase deficiency
• Cystic Fibrosis
• Fatty acid oxidation disorders
• Galactosemia
• Glycogen storage disorders
• Organic acid disorders
• Peroxisomal disorders
• Lysosomal storage disorders

Genetic counseling and optional testing are available through the SSM Maternal and Fetal Care Center network. Couples may benefit from the counseling if they have a higher chance of having a child with a birth defect or genetic condition — due to abnormal test results, age or family history — or if they have concerns about medication or environmental exposures during pregnancy.

The St. Louis Fetal Care Institute is one of only a handful of fetal centers nationwide to offer minimally invasive fetal surgery. Its multidisciplinary team includes specialists from genetics, pediatric surgery and maternal-fetal medicine. 

Explore the St. Louis Fetal Care Institute

The Cancer Genetics Program helps individuals evaluate if their personal or family history suggests a hereditary cancer risk. Genetic counselors review medical and family history, provide information and assist with genetic testing decisions. 

Hereditary factors cause an estimated 5% to 10% of cancers. Patients may benefit from the program if their personal/family history includes:

• Cancer at a young age (under 50)
• More than one type of cancer in the same person
• Bilateral cancer (e.g., cancer in both breasts)
• Several relatives with cancer, especially the same type
• Rare or unusual cancer (e.g., male breast cancer)

The Marfan Syndrome and Familial Aortopathy Clinic provides comprehensive evaluation and long-term care for patients with Marfan syndrome and related connective tissue disorders. Services include:

• Cardiovascular imaging
• Physical examination
• Genetic counseling
• Confirmatory testing, if indicated

Explore the Marfan Syndrome and Familial Aortopathy Clinic

The Neurofibromatosis Clinic is the only facility of its kind in Missouri where patients can be seen by several specialists (geneticist, neurologist, orthopedist, ophthalmologist, genetic counselor) all in one visit. 

Explore the Neurofibromatosis Clinic

• Lysosomal storage disorders
• Newborn screening and development
• Syndrome identification
• Congenital abnormalities
• Cytogenomics
• Inborn errors of metabolism 

• van Ravenswaaij-Arts CM, Hefner M, Blake K, et al. CHD7 Disorder. 2006 Oct 2
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• Sosa, A., Kariuki, B., Gan, Q., Knutsen, A. P., Bellone, C., Guzman, M., … Montano, A. M. (2020). Induction of oral tolerance to improve enzyme replacement therapy in Morquio syndrome. J Clin Invest.
• Jain E, Flanagan M, Sheth S, Patel S, Gan Q, Patel B, Montaño AM, Zustiak SP.Drug Deliv Transl Res. Biodegradable polyethylene glycol hydrogels for sustained release and enhanced stability of rhGALNS enzyme. 2020 Jan 28. doi: 10.1007/s13346-020-00714-7. [Epub ahead of print]
• Castilla-Vallmanya, L., Selmer, K. K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., Yang, S., … Gordon, C. T. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 22(7), 1215–1226.
• Almannai, M., Obaid, O., Faqeih, E., Alasmari, A., Samman, M. M. M., Pinz, H., … Alkuraya, F. S. (2020). Further delineation of METTL23-associated intellectual disability. American Journal of Medical Genetics. Part A, 182(4), 785–791.
• Morris, C. A., Braddock, S. R., & Council On Genetics. (2020). Health Care Supervision for Children With Williams Syndrome. Pediatrics, 145(2).
• Wang, R. Y., Rudser, K. D., Dengel, D. R., Evanoff, N., Steinberger, J., Movsesyan, N., … Montaño, A. M. (2020). Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease. Orphanet Journal of Rare Diseases, 15(1), 73.Braddock, S. R., Lipinski, R. J., & Carey, J. C. (2020). 40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting. American Journal of Medical Genetics. Part A, 182(4), 877–942.
• Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674. PMID: 31327508
• Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K.Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. J Pediatr. 2019 Aug 30. pii: S0022-3476(19)30961-8. doi:10.1016/j.jpeds.2019.07.053. [Epub ahead of print] PMID: 31477379
• Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. PMID: 31474318
• Holtz M, Montaño AM, Sly WS. Association between mucopolysaccharidosis Type VII and hydrops fetalis. Ultrasound In Obstetrics & Gynecology: The Official Journal Of The International Society Of Ultrasound In Obstetrics And Gynecology. June 2019. doi:10.1002/uog.20371.
• Alméciga-Díaz CJ, Montaño AM, Barrera LA, Tomatsu S. Tailoring the AAV2 capsid vector for bone-targeting. Pediatric Research. 2018;84(4):545-551. doi:10.1038/s41390-018-0095-8.
• Vartanyan, Ara & Montaño, Adriana. (2018). Causal Therapies in Mucopolysaccharidoses: Enzyme Replacement Therapy. Journal of Child Science. 08. e156-e162. 10.1055/s-0038-1667346.
• Susanne G. Kircher, Adriana M. Montaño, Christina Lampe. "Advances in Mucopolysaccharidoses." Journal of Child Science 01: e1-e180 (2018): e113-e115.
• Moccia A, Srivastava A, Skidmore JM, Bernat JA, MD, Wheeler M, Chong J, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in Medicine, 4 January 2018, doi:10.1038/gim.2017.233
• Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017 Nov; 190:130-135. doi: 10.1016/j.jpeds.2017.06.048. Epub 2017 Jul 17. PMID:28728811
• Hefner MA, Fassi E. Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. Am J Med Genet. 2017:1-10.
• Keppler-Noreuil KM, Martinez-Agosto JA, Hudgins L, Carey JC. 37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting. Am J Med Genet Part A. 2017; 9999:1-67. https://doi.org/10.1002/ajmg.a.38229
• Braddock, SR, Armbrecht ES, Josephsen JB, Cibulskis CC. Procedures in the first year of life for children with trisomy 13 and trisomy 18: a 25-year, single-center review.
• Jones KL, Fallatah W, Braddock S, Bays J, Kline AD, Chambers CD. Mechanisms involved in increased eyelash length.
• Wen, J. X., Feldenberg, L. R., Abraham, E. C., Sadiq, F. H., Christensen, K. M., Braddock, S.R. (2016). Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys. The Journal of pediatrics.
• Bennett, J. T., Tan, T. Y., Alcantara, D., Tétrault, M., Timms, A. E., Jensen, D.,Collins, S., Nowaczyk, M. J., Lindhurst, M. J., Christensen, K. M., Braddock, S.R., Brandling-Bennett, H., Hennekam, R. C., Chung, B., Lehman, A., Su, J., Ng, S., Amor, D. J., Majewski, J., Biesecker, L.G., Boycott, K. M., Dobyns, W. B., O'Driscoll, M., Moog, U., McDonell, L. M. (2016). Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. American Journal of human genetics, 98(3), 579-87.
• Chung, W. K., Martin, K., Jalas, C., Braddock, S.R., Juusola, J., Monaghan, K. G., Warner, B., Franks, S., Yudkoff, M., Lulis, L., Rhodes, R. H., Prasad, V., Torti, E. E., Cho, M. T., Shinawi,M. (2015). Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. Journal of medical genetics, 52(9), 627-35.
• Braddock, SR., Lipinski, R. J., Williams, M. S., Carey, J. C. (2015). 35(th) Annual David WSmith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting. American journal of medical genetics. Part A, 167(8), 1685-74
• Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Collins, S., Park, K., Carter, M., Glass, I., Krägeloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R. J., Torti, E. E., Braddock, S.R., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O’Connor, B. C., Keegan, C. E., Yin, L. J., Lai, A. H. M., Martin, N., McKinnon, M., Addor, M.-C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Aracena, M., Gripp, K. W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., John Graham Jr., Guerrini, R., Dobyns, W. B. (2016). PIK3CA- associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI insight, 1(9). http://dx.doi.org/10.1172/jci.insight.87623
• Bradshaw, R.J., (Ed). (2016). PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1(9) https://insight.jci.org/articles/view/8762Bradshaw, R.J. (Ed). (2016). Achondroplasia. www.thinkgenetic.com/diseases/achondroplasia/overview/74
• Bradshaw, R.J. (Ed). (2016). Alpha-thalassemia/mental retardation syndrome, x-linked. www.thinkgenetic.com/diseases/alpha-thalassemiamental-retardation-syndrome-x-linked-8377/overview/5742
• Bradshaw, R.J. (Ed). (2016). Beckwith Wiedemann syndrome. www.thinkgenetic.com/diseases/beckwith-wiedemann-syndrome-8859/overview/17396
• Bradshaw, R.J. (Ed). (2016). Cornelia de Lange syndrome. www.thinkgenetic.com/diseases/cornelia-de-lange-syndrome-696/overview/1784
• Bradshaw, R.J. (Ed). (2016). Down syndrome. www.thinkgenetic.com/diseases/down-syndrome/overview/17515
• Bradshaw, R.J. (Ed). (2016). Sickle cell anemia. www.thinkgenetic.com/diseases/sickle-cell-anemia-8385/overview/7842
• Bradshaw, R.J. (Ed). (2016). Williams syndrome. www.thinkgenetic.com/diseases/williams-syndrome-8632/overview/18397
• Hintze J, P, Kirby A, Torti E, Batanian J, R, Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion. Mol Syndromol 2016;7(2):80-86
• Martin DM, Salem-Hartshorne N, Hartshorne TS, Scacheri PC, Hefner MA. 2016. 12th international CHARGE syndrome conference proceedings. Am J Med Genet Part A 9999A:856–869.
• Hackman, S., Calvey, L., Bernreuter, K., Mark, M. W., Starnes, S. E., Batanian, J. R. (2015). Cryptic insertion of 3'FOXO1 into inverted chromosome arm 2q in the presence of two normal chromosome 13s and 13 small interstitial duplications in a patient with alveolar rhabdomyosarcoma. Cancer genetics, 208(9), 428-33.
• Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian JR, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. PMID: 26443594

• Teratology: Past, Present & Future. Given by Dr. Stephen Braddock at the Osaka Women and Children's Hospital, Osaka, Japan 30 people attended. 10/2/2017
• Teratology: Past, Present & Future. Given by Dr. Stephen Braddock at the Japan Teratology Information Service Annual Forum, National Center for Child Health and Development, Tokyo, Japan 280 people attended. 10/1/2017
• Montano AM. Lessons from Echocardiographic Assessment of Morquio A Mice. Presented at the Gordon Conference on Lysosomal Diseases in Lucca, Italy on March 20, 2017.
• Braddock SR, Christensen KM, Farmakis SG, Starnes S, Sotelo-Avila C, Batanian JR, Dempsher DP. Spontaneous ovulation in a male adolescent: report of a rare ovotesticular disorder of sex development and pathogenic hypothesis. Am J Med Genet 170(7):1721, 2016. Presented at the 36th David W. Smith Workshop on Malformations and Morphogenesis, Harbourtowne, St. Michaels, MD, August 14-19, 2015.
• Atherton, A M, Doheny, D, Peck, D, Christensen, Katherine M, Smith, K, Manwaring, L, Kiesling, J, Hillman, R, Font-Montgomery, E, Shinawi, M, Grange, DK,. 2015 WORLD Symposium, "Newborn screening for Fabry disease: is the A143T allele a pathogenic mutation or a pseudodeficiency allele?." (2015).
• Atherton, A, Peck, D, Christensen, Katherine M, Smith, K, Manwaring, L, Hopkins, P, Rogers, S, Kiesling, J, Font-Montgomery, E, Hillman, R, Braddock, Stephen, R, Shinawi, M, Grange, D K, Heese, B A, 2015 WORLD Symposium, "The first two years of full population pilot newborn screening for lysosomal disorders: The Missouri experience." (2015).
• Scalzo AJ, Braddock SR. Normal offspring of a 22 yo male and 17 you female recreationally abusing synthetic cannabinoid K2 and cathinone “bath salts”. Presented at the 10th Annual Saint Louis University Pediatric Science Days, St. Louis, MO, April 21, 2016.
• Scalzo AJ, Braddock SR. Normal offspring of a 22 yo male and 17 you female recreationally abusing synthetic cannabinoid K2 and cathinone “bath salts”. Birth Def Res A 106:408, 2016. Presented at the 56th
• Annual Teratology Society Meeting, San Antonio, TX, June 25-29, 2016.
• Braddock SR. Update on the Care and Management of Children with Trisomy 18 & 13 Syndromes. 31stSouthern Illinois Perinatal Network Conference, O’Fallon, IL, 45 people, September 16, 2015.
• Braddock SR. Teratology Update 2016, SLU Maternal Fetal Medicine Rounds, 20 people, June 15, 2016.
• Bradshaw JR. Human Genetics and Genomics Course, “Genetic Counseling,” Earlham College. Richmond, IN, April 1, 2016.
• Bradshaw JR. Pre-Health Students Career Series, “Careers in Genetic Counseling,” Earlham College. Richmond, IN, April 1, 2016.
• Bradshaw JR., “Panel Discussion: Ethical Considerations when Identifying Fetal Surgery Candidates,” National Society of Genetic Counselors Annual Education Conference. Pittsburgh PA, October 2, 2015.
• Hefner MA. CHARGE syndrome update. SLU Pediatrics Grand Rounds, December 15, 2015.
• Kirby, Amelia J., SLU Medical student noon conference, "Metabolic Disorders." (March 22, 2016).
• Kirby, Amelia J., "Newborn Screening." (March 15, 2016).
• Kirby, Amelia J., SLU Neurology Case Conference, "Cases solved by Whole Exome Sequencing." (February 26, 2016).
• Kirby, Amelia J., SLU Pediatric Grand Rounds, "Making Sense of Genetic Testing: FISHing for Answers." (February 10, 2016).
• Kirby, Amelia J., SLU Neurology Case Conference, "Whole Exome Sequencing." (September 11, 2015).
• Kirby, Amelia J., SLU Pediatric Resident Noon Conference, "Metabolic Disorders." (September 1, 2015).
• Grace S, Patel S, Gan Q, Flanagan M, Montaño AM. “Mucopolysaccharidosis IVA: gene expression analysis of extracellular matrix in mice” 2015 American Physician Scientists Association (APSA) Midwest Regional. Saint Louis, MO, USA (10/2015).
• Foerster KE, Gan Q, Campbell M, Tomatsu S, Orii T, Suzuki Y, Montaño AM. “Correlation levels of activities of daily living and disaccharide concentrations in Mucopolysaccharidoses” 2015 American Physician Scientists Association (APSA) Midwest Regional. Saint Louis, MO, USA (10/2015).
• Foerster KE, Gan Q, Campbell M, Tomatsu S, Orii T, Suzuki Y, Montaño AM. “Correlation levels of activities of daily living and disaccharide concentrations in Mucopolysaccharidoses” Molecular Genetics and Metabolism, 117 (2): S46 12th Annual WORLD Symposium. San Diego, CA, USA (2/2016).
• Foerster KE, Gan Q, Campbell M, Tomatsu S, Orii T, Suzuki Y, Yamaguchi S, Montaño AM. “Determination and validation of cutoff score for newborn screening of mucopolysaccharidoses” Molecular Genetics and Metabolism, 117 (2): S46 12th Annual WORLD Symposium. San Diego, CA, USA (2/2016).
• Kubaski F, Mason RW, Giugliani R, Hanai J, Xie L, van Vlies NN, Church H, Yamaguchi S, Suzuki Y, Orii T, Montaño AM, Tomatsu S. “Newborn screening for mucopolysaccharidoses: A pilot study of 2,640 samples” Molecular Genetics and Metabolism, 117 (2): S69 12th Annual WORLD Symposium. San Diego, CA, USA (2/2016).
• Foerster K, Gan Q, Campbell M, Tomatsu S, Orii T, Suzuki Y, Yamaguchi S, Montaño AM. “Newborn screening for mucopolysaccharidoses: Determination of sensitivity, specificity and cut-off score” 2016 APHL Newborn Screening & Genetic Testing Symposium (NBSGTS). St. Louis, MO, USA (2/2016).
• Jain E, Chehreghanianzabi Y, Patel S, Flanagan M, Sell SA, Montaño AM, Zustiak SP. “Development of GALNS enzyme replacement therapy based on injectable microgels” Midwest Regenerative Medicine Meeting 2016. St. Louis, MO, USA (4/2016).
• Flanagan M, Patel A, Gan Q, Pinni S, Puckett Y, Montaño AM “Impact of Miglustat therapy on the hypophosphatasia mouse model” The 10th Annual Pediatric Science Day Symposium. Saint Louis University, St Louis, MO, USA (04/2016).
• Jain E, Chehreghanianzabi Y, Patel S, Flanagan M, Gan Q, Sell SA, Montaño AM, Zustiak SP “Development of injectable microgels for GALNS enzyme replacement therapy” The 10th Annual Pediatric Science Day Symposium. Saint Louis University, St Louis, MO, USA (04/2016).
• Flanagan M, Gan Q, Wang R, Montaño AM “Echocardiographic Assessment of Morquio A Mice”. The 10th Annual Pediatric Science Day Symposium. Saint Louis University, St Louis, MO, USA (04/2016).

• Teodorescu, Cristiana F., Teodorescu, Cristiana F., Zand, Debra H. (Co-Principal), Dempsher, David P., Maxwell, Marilyn A. (Other), Teckman, Jeffrey H., Braddock, Barbara A., Maxim, Rolanda (Principal), Knutsen, Alan P., Paruthi, Shalini, Goretzke, Sean Everett, Heaney, Mary Susan (Other), Braddock, Stephen R., "Autism Treatment Network - 2014 Cycle," Sponsored by Autism Speaks (September 1, 2014 - August 31, 2017).
• Braddock, Stephen R. (Principal), Torti, Erin E. (Other), McNeil, Lisa M. (Other), Zasaretti, Loletta A. (Other), Christensen, Katherine M (Other), Hefner, Margaret A. (Other), Waldman, Laura M. (Other), "Genetic Disease Program Services," Sponsored by Missouri Department of Health & Senior Services (July 1, 2013 - May 31, 2017).
• Wilmott, Robert W. (Other), Cooper, Amy I. (Other), Wooldridge, Jamie L. (Other), Sobush, Kurtis T. (Other), Noyes, Blakeslee E. (Principal), Knutsen, Alan P. (Other), Teckman, Jeffrey H. (Other), Braddock, Stephen R.(Other), Kociela, Vikki (Other), Albers, Gary M (Co-Investigator), "FY 2015-2016 MO - 171/171 - Cardinal Glennon Children's Medical Center (SLU)," Sponsored by Cystic Fibrosis Foundation (July 1, 2015 - June 30, 2016).
• Zasaretti, Loletta A. (Other), Torti, Erin E. (Other), Christensen, Katherine M (Other), Braddock, Stephen R. (Principal), McNeil, Lisa M. (Other), "Genetic Counseling 2016," Sponsored by Illinois Public Health. (July 1, 2015 - June 30, 2016).
• Rauchman, Michael I. (Collaborator), Bradshaw, Rachael J. (Collaborator), Feldenberg, Louis Richard (Principal), June, Betty (Collaborator), "Proof of Concept Study: Identifying Genetic Causes of Congenital Renal Disease," Sponsored by SSM St. Mary's Health Center Foundation. (October 12, 2015 - September 13, 2016).
• Noyes, Blakeslee E. (Principal), Christensen, Katherine M (Other), Thomas, Bridgette C. (Other), "FY15 Newborn Screening for Cystic Fibrosis," Sponsored by Missouri Department of Health & Senior Services. (July 1, 2014 - May 31, 2017).
• Braddock, Stephen R. (Principal), Torti, Erin E. (Other), McNeil, Lisa M. (Other), Zasaretti, Loletta A. (Other), Christensen, Katherine M (Other), Hefner, Margaret A. (Other), Waldman, Laura M. (Other), "Genetic Disease Program Services," Sponsored by Missouri Department of Health & Senior Services. (July 1, 2013 - May 31, 2017).
• Zasaretti, Loletta A. (Other), Torti, Erin E. (Other), Christensen, Katherine M (Other), Braddock, Stephen R. (Principal), McNeil, Lisa M. (Other), "Genetic Counseling 2016," Sponsored by Illinois Public Health (July 1, 2015 - June 30, 2016).
• Montano, Adriana Maria (Principal), "Manifestations of Cardiovascular Disease in Morquio A: Evaluation, Assessment, and Therapy," Sponsored by National MPS Society (November 1, 2013 - October 31, 2016).
• Gottesman, Gary S. (Key Personnel), Tomatsu, Shunji (Principal), Montano, Adriana Maria (Principal), "Newborn Screening and Biomarkers for Mucopolysaccharidoses," Sponsored by National Institutes of Health (April 2012 - June 2016).
• Montano, Adriana Maria (Principal), "Effects of Miglustat on Hypophosphatasia Mouse Model," Sponsored by Actelion Pharmaceuticals, Ltd. (November 2014 – October 2016).
• Westfall, Thomas C. (Mentor), Zahm, Daniel S. (Mentor), Montano, Adriana Maria (Mentor), Butler, Andrew (Mentor), Zhang, Jinsong (Mentor), Knuepfer, Mark M. (Mentor), Neuschwander-Tetri, Brent A. (Mentor), Baldan, Angel (Mentor), Meyers, Marvin J. (Mentor), Walker, John K. (Mentor), Ford, David Alexander (Mentor), Macarthur, Heather (Mentor), Ray, Ratna B. (Mentor), Voigt, Mark M. (Principal), Westfall, Thomas C. (Mentor), Martin, Robert Scott (Mentor), Farr, Susan A. (Mentor), Rezaie, Alireza R. (Mentor), Samson, Willis Kendrick (Mentor), Salvemini, Daniela (Mentor), Aurora, Rajeev (Mentor), Harkins, Amy B. (Mentor), Lin, Reigh-Yi (Mentor), Heyduk, Tomasz (Mentor), Cho, Thomas Yoonsang (Mentor), Burris, Thomas P (Principal), Egan, Terrance M. (Principal), Kisselev, Oleg G. (Mentor), Neckameyer, Wendi S. (Mentor), Edwards, John C. (Mentor), "Pharmacological Sciences Training Grant," Sponsored by National Institutes of Health, (July 2016–June 2021)
• Flanagan, Michael B. (Post-Doc), Montano, Adriana Maria (Principal), "Biomarkers of Cardiovascular Disease of Morquio A," Sponsored by Children's Cardiovascular Foundation (January 2017 – December 2018)

• Montano, A. Miglustat for Improving Bone Mineral Density in Bone Diseases. Application number: 62/222,012. Filed: September 22, 2015.
• Montano, A., Sosa, C. Reduced Immunogenic Proteins for Lysosomal Storage Disorders. Application number: 62281611. Filed: January 21, 2016.