Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Burton, Barbara K., Charrow, Joel, Hoganson, George E., Waggoner, Darrell, Tinkle, Brad, Braddock, Stephen R., Schneider, Michael, Grange, Dorothy K., Nash, Claudia, Shryock, Heather, Barnett, Rebecca, Shao, Rong, Basheeruddin, Khaja, Dizikes, George
Published in The Journal of pediatrics (01.11.2017)
Published in The Journal of pediatrics (01.11.2017)
Get full text
Journal Article
Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study
Chambers, Christina D, Johnson, Diana L, Xu, Ronghui, Luo, Yunjun, Lopez-Jimenez, Janina, Adam, Margaret P, Braddock, Stephen R, Robinson, Luther K, Vaux, Keith, Lyons Jones, Kenneth
Published in PloS one (18.10.2019)
Published in PloS one (18.10.2019)
Get full text
Journal Article
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
Get full text
Journal Article
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
Get full text
Journal Article
Rare SUZ12 variants commonly cause an overgrowth phenotype
Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Get full text
Journal Article
Further delineation of METTL23‐associated intellectual disability
Almannai, Mohammed, Obaid, Osama, Faqeih, Eissa, Alasmari, Ali, Samman, Manar M., Pinz, Hailey, Braddock, Stephen R., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
Get full text
Journal Article
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Wang, Raymond Y, Rudser, Kyle D, Dengel, Donald R, Evanoff, Nicholas, Steinberger, Julia, Movsesyan, Nina, Garrett, Robert, Christensen, Katherine, Boylan, Deborah, Braddock, Stephen R, Shinawi, Marwan, Gan, Qi, Montaño, Adriana M
Published in Orphanet journal of rare diseases (17.03.2020)
Published in Orphanet journal of rare diseases (17.03.2020)
Get full text
Journal Article
Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys
Wen, Joy X., MD, Feldenberg, L. Richard, MD, Abraham, Elizabeth, MD, MS, Sadiq, Farouk, MD, Christensen, Katherine M., MS, Braddock, Stephen R., MD
Published in The Journal of pediatrics (01.08.2016)
Published in The Journal of pediatrics (01.08.2016)
Get full text
Journal Article
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Burton, Barbara K, Charrow, Joel, Hoganson, George E, Fleischer, Julie, Grange, Dorothy K, Braddock, Stephen R, Hitchins, Lauren, Hickey, Rachel, Christensen, Katherine M, Groepper, Daniel, Shryock, Heather, Smith, Pamela, Shao, Rong, Basheeruddin, Khaja
Published in International journal of neonatal screening (01.03.2020)
Published in International journal of neonatal screening (01.03.2020)
Get full text
Journal Article
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
Gauntner, Timothy D., Karumuri, Manasa, Guzman, Miguel A., Starnes, Sara E., Besmer, Sherri, Pinz, Hailey, Braddock, Stephen R., Andreone, Teresa L.
Published in Clinical case reports (01.03.2021)
Published in Clinical case reports (01.03.2021)
Get full text
Journal Article
Birth Outcomes in Women Who Have Taken Hydroxycholoroquine During Pregnancy: A Prospective Cohort Study
Chambers, Christina D., Johnson, Diana L., Xu, Ronghui, Luo, Yunjun, Felix, Robert, Fine, Minh, Lessard, Chloe, Adam, Margaret P., Braddock, Stephen R., Robinson, Luther K., Burke, Leah, Jones, Kenneth Lyons, Quinn, D., Stallman, C., Kao, K., Bertrand, K., Brochu, J., Lavigne, S., Conover, E., Cole, P., Roth, M., Harris‐Sagaribay, L., Wolfe, L., Carey, J., Romeo, A., Pupco, A., Ito, S., Coles, C.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2022)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2022)
Get full text
Journal Article
Solid tumor screening recommendations in trisomy 18
Farmakis, Shannon G., Barnes, Ann M., Carey, John C., Braddock, Stephen R.
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
Get full text
Journal Article
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
Burton, Barbara K., Hoganson, George E., Fleischer, Julie, Grange, Dorothy K., Braddock, Stephen R., Hickey, Rachel, Hitchins, Lauren, Groepper, Daniel, Christensen, Katherine M., Kirby, Amelia, Moody, Conny, Shryock, Heather, Ashbaugh, Laura, Shao, Rong, Basheeruddin, Khaja
Published in The Journal of pediatrics (01.11.2019)
Published in The Journal of pediatrics (01.11.2019)
Get full text
Journal Article
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans
Guimier, Anne, de Pontual, Loïc, Braddock, Stephen R, Torti, Erin, Pérez-Jurado, Luis A, Muñoz-Cabello, Patricia, Arumí, Montserrat, Monaghan, Kristin G, Lee, Hane, Wang, Lee-Kai, Pluym, Ilina D, Lynch, Sally Ann, Stals, Karen, Ellard, Sian, Muller, Cécile, Houyel, Lucile, Cohen, Laurence, Lyonnet, Stanislas, Bajolle, Fanny, Amiel, Jeanne, Gordon, Christopher T
Published in Human molecular genetics (13.01.2023)
Published in Human molecular genetics (13.01.2023)
Get full text
Journal Article
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Chung, Wendy K, Martin, Kimberly, Jalas, Chaim, Braddock, Stephen R, Juusola, Jane, Monaghan, Kristin G, Warner, Barbara, Franks, Samuel, Yudkoff, Marc, Lulis, Lauren, Rhodes, Roy H, Prasad, Vinay, Torti, Erin, Cho, Megan T, Shinawi, Marwan
Published in Journal of medical genetics (01.09.2015)
Published in Journal of medical genetics (01.09.2015)
Get full text
Journal Article
Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25-year, single-center review
Josephsen, Justin B., Armbrecht, Eric S., Braddock, Stephen R., Cibulskis, Catherine C.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2016)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2016)
Get full text
Journal Article