The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Guenzel, Adam J, Turgeon, Coleman T, Nickander, Kim K, White, Amy L, Peck, Dawn S, Pino, Gisele B, Studinski, April L, Prasad, Vinod K, Kurtzberg, Joanne, Escolar, Maria L, Lasio, Maria Laura Duque, Pellegrino, Joan E, Sakonju, Ai, Hickey, Rachel E, Shallow, Natalie M, Ream, Margie A, Orsini, Joseph J, Gelb, Michael H, Raymond, Kimiyo, Gavrilov, Dimitar K, Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide
Ruzhnikov, Maura R Z, Brimble, Elise, Hickey, Rachel E
Published in Pediatrics in review (01.03.2021)
Published in Pediatrics in review (01.03.2021)
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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Burton, Barbara K, Hickey, Rachel, Hitchins, Lauren
Published in International journal of neonatal screening (01.09.2020)
Published in International journal of neonatal screening (01.09.2020)
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Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
Burton, Barbara K, Hickey, Rachel, Hitchins, Lauren, Shively, Vera, Ehrhardt, Joan, Ashbaugh, Laura, Peng, Yin, Basheeruddin, Khaja
Published in International journal of neonatal screening (17.01.2022)
Published in International journal of neonatal screening (17.01.2022)
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P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses
Drackley, Andy, Rathbun, Pamela, Ing, Alexander, Wlodaver, Alissa, Baker, Joshua, Hickey, Rachel, Peter, Merlene, McRae, Anne, Jurgensmeyer, Sarah, Lee Yap, Kai, Prada, Carlos
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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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)
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Peptide ligand-based ELISA reagents for antibody detection
Heyduk, Ewa, Hickey, Rachel, Pozzi, Nicola, Heyduk, Tomasz
Published in Analytical biochemistry (15.10.2018)
Published in Analytical biochemistry (15.10.2018)
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