The Division of Medical Genetics in the Department of Pediatrics at Saint Louis University is committed to providing high-quality clinical and educational services and advancing medical genetics research.
We educate medical students, residents and practicing health care providers. Our division's faculty directs and contributes many of the lectures to the Cell and Molecular Biology course for the first year medical students and, in addition, we provide numerous presentations throughout the year to residents, physicians, allied health professionals and the lay public, including area high schools.
Affiliated Labs and Clinics
The Molecular Cytogenomics Laboratory at SSM Health Cardinal Glennon Children's Hospital offers a comprehensive menu of tests which includes chromosomal microarray analysis, fluorescence in-situ hybridization, as well as chromosome analyses of amniotic fluid, products of conception, peripheral blood, bone marrow, lymph nodes and solid tumors.
The lab serves hospitals in Missouri and southern Illinois. It also provides cytogenetic rotations for pathology, pediatric residents and oncology fellows and exploration venues for undergraduate students.
Children and adults are evaluated for a broad range of genetic conditions in the General Genetics Clinic. Common referral indications include:
- 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
Evaluation, genetic counseling and state-of-the-art diagnostic testing are available. Clinics are held at SSM Health Cardinal Glennon Children's Hospital.
The Metabolic Genetics Clinic at the SSM Health Cardinal Glennon Children's Hospital provides specialized care for pediatric and adult patients with inherited disorders of metabolic conditions. Many patients have been identified through the Missouri and Illinois newborn screening programs. The services provided include confirmatory testing, genetic evaluation, genetic counseling and dietary management. Metabolic genetics encompasses a wide spectrum of conditions:
- Amino acid disorders
- Biotinidase deficiency
- Cystic Fibrosis
- Fatty acid oxidation disorders
- Glycogen storage disorders
- Organic acid disorders
- Peroxisomal disorders
- Lysosomal storage disorders
Couples at risk for offspring with a birth defect or genetic condition based on abnormal test results, age or family history, as well as those with concerns about medication or environmental exposures during pregnancy, may benefit from our services. Genetic counseling is offered along with optional testing such as detailed ultrasound examination, non-invasive prenatal testing, sequential screening, chorionic villus sampling, amniocentesis and carrier screening. We offer these services throughout the SSM Maternal and Fetal Care Center network. Physicians can refer their patients to one of these clinics by contacting the SSM Maternity Care Maternal Access Center at 1-888-636-7542.
St. Louis Fetal Care Institute is one of only a handful of fetal centers nationwide to offer minimally invasive fetal surgery. This center is comprised of a multidisciplinary team including specialists from genetics, pediatric surgery and maternal fetal medicine. The Institute is located at SSM Health Cardinal Glennon Children's Hospital.
An estimated 5 to 10 percent of cancers are caused by hereditary factors. Some of the cancers that may be inherited include: breast, colon, uterine, ovarian, melanoma, stomach, thyroid, kidney and pancreatic cancer. The Cancer Genetics Program is designed to help individuals who are concerned about a hereditary cause for their personal or family history of cancer.
Genetic counselors who specialize in cancer genetics review a person's medical and family history, provide information about cancer genetics, and help individuals make informed decisions about genetic testing. Individuals who have a personal or family history that includes any of the following may benefit from our program:
- Cancer at a young age (under age 50)
- More than one type of cancer (e.g. colon and uterine cancer) in the same person
- Bilateral cancer (e.g. cancer in both breasts)
- Several relatives with cancer, especially if they have/had the same type of cancer
- Rare or unusual cancer (e.g. male breast cancer)
These services are offered at SSM Health Cardinal Glennon Children's Hospital, SSM Health St. Mary's, St. Claire, DePaul and St. Joseph's Medical Park (St. Charles).
The Marfan Syndrome and Familial Aortopathy Clinic at the SSM Health Cardinal Glennon Children's Hospital provides specialized care to patients with Marfan syndrome and related connective tissue disorders. This multidisciplinary clinic provides comprehensive evaluations and long term management for new and established patients. The services provided include cardiovascular imaging, thorough physical examination, genetic counseling, and confirmatory testing if indicated. The Marfan syndrome and Familial Aortopathy Clinic at the SSM Health Cardinal Glennon Children's Hospital is recognized by the Marfan Foundation.
This multidisciplinary clinic is the only one in Missouri where a patient can be seen by several specialists (geneticist, neurologist, orthopedist, ophthalmologist, genetic counselor) in one convenient appointment.
To increase accessibility to genetic services, outreach clinics are held at two locations in southern Illinois:
- Fayette County Department of Health, Vandalia, IL
- Jefferson County Department of Health, Mount Vernon, IL
Services provided at outreach clinics include: general genetics evaluation and follow-up, cancer, preconception counseling and metabolic follow-up evaluations. Outreach clinics are made possible by funds received from the Illinois Department of Health.
The research interests of our faculty cover both basic science and clinical areas of medical genetics. We are also involved in basic research of lysosomal storage disorders, newborn screening and development and treatments in SLU's Doisy Research Center. In addition, we are involved in clinical research including syndrome identification, teratology, cytogenomics and inborn errors of metabolism both intra and extramurally.
- Stephen R. Braddock, M.D.
Interests: Delineation of new multiple malformation syndromes, dysmorphology, prevalence and variation of prenatal teratogen exposures and birth defects, fetal alcohol syndrome.
- Jacqueline Batanian, Ph.D.
Interests: Development of molecular cyto-genetic techniques, mechanisms of chromosome rearrangements in cancer and at birth
- Adriana Maria Montaño-Suárez, Ph.D.
Interests: Basic and Translational Research of Mucopolysaccharidoses, in particular Morquio A syndrome, glycosaminoglycans - keratan sulfate, Newborn Screening.
- Rachael Bradshaw, M.S., CGC
Interests: Prenatal Counseling, Fetal Anomalies, Education
- Katherine Christensen, M.S., CGC
Interests: Pediatric genetics, inborn errors of metabolism and lysosomal storage disorders, cardiovascular genetics, neurogenetics
- Margaret Hefner, M.S., CGC
Interests: CHARGE syndrome
- Kara Klemp, M.S., CGC
Interests: Pediatric genetics, Pediatric oncology genetics, Skeletal Dysplasia
- Ashley M. McElheny, M.S., CGC
Interests: Prenatal Genetics, fetal anomalies, preconception counseling
- Hailey Pinz, M.S., CGC
Interests: Pediatric genetics, cancer genetics and community outreach
- Kayleigh Swaggart, Ph.D., M.S., CGC
Interests: Prenatal counseling
- Laura Waldman, M.S., CGC
Interests: Cancer genetics, neurofibromatosis
- 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.
Publications, Presentations and Grants
- van Ravenswaaij-Arts CM, Hefner M, Blake K, et al. CHD7 Disorder. 2006 Oct 2
[Updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2020. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
- 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)
Honors and Awards
- Stephen Braddock, M.D., Best Doctor 2017-2019
- Pediatrics Genetics Team, 2017 Ambassador Choice Award, Exceptional Team