Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Authors: Lim, Chelsey Chaehee, Vockley, Jerry, Ujah, Otobo, Kirby, Russell S., Edick, Mathew J., Berry, Susan A., Arnold, Georgianne L.

Source: In Molecular Genetics and Metabolism Reports September 2022 32

The 2019 US medical genetics workforce: a focus on clinical genetics

Authors: Jenkins, Brittany D., Fischer, Catherine G., Polito, Curt A., Maiese, Deborah R., Keehn, Alisha S., Lyon, Megan, Edick, Mathew J., Taylor, Matthew R.G., Andersson, Hans C., Bodurtha, Joann N., Blitzer, Miriam G., Muenke, Maximilian, Watson, Michael S.

Source: In Genetics in Medicine August 2021 23(8):1458-1464

NEUROLOGICAL AND PSYCHOLOGICAL COMORBIDITIES IN 36 INDIVIDUALS WITH MSUD ENROLLED IN THE IBEM-IS DATABASE

Authors: Carey, Margaret, Edick, Mathew J., Justice, Kaitlin, Burton, Barbara

Source: Molecular genetics and metabolism. 138(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196118295.0x000001&indx=1&recIds=ETOCvdc_100196118295.0x000001

Molecular Emergence of Acute Myeloid Leukemia during Treatment for Acute Lymphoblastic Leukemia

Authors: Blanco, Javier G., Dervieux, Thierry, Edick, Mathew J., Mehta, Perdeep K., Rubnitz, Jeffrey E., Shurtleff, Sheila, Raimondi, Susana C., Behm, Frederick G., Pui, Ching-Hon, Relling, Mary V.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2001 Aug . 98(18), 10338-10343.

Access URL: https://www.jstor.org/stable/3056530

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

Authors: McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., Pena, Loren D.M. ^*

Source: In The Journal of Pediatrics January 2017 180:200-205

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions

Authors: Berry, Susan A., Leslie, Nancy D., Edick, Mathew J., Hiner, Sally, Justice, Kaitlin, Cameron, Cynthia

Source: In Genetics in Medicine December 2016 18(12):1276-1281

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Authors: Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Cameron, Cynthia A., Berry, Susan A.

Source: In Molecular Genetics and Metabolism September-October 2016 119(1-2):75-82

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Authors: Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Walsh Vockley, Cate, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A., Arnold, Georgianne L., Vockley, Jerry

Source: In Molecular Genetics and Metabolism August 2016 118(4):272-281

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

Authors: Forsyth, RaeLynn, Vockley, Catherine Walsh, Edick, Mathew J., Cameron, Cynthia A., Hiner, Sally J., Berry, Susan A., Vockley, Jerry, Arnold, Georgianne L.

Source: In Molecular Genetics and Metabolism May 2016 118(1):15-20

Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice‐based competencies in clinical care through remote supervision.

Authors: Shane‐Carson, Kate P., Stone, Loan, Justice, Kaitlin, Mwanda, Shannah, Stagg, Amy, Pilditch, Jane, Hiner, Sally, Schwoerer, Jessica Scott, Berry, Susan A., Edick, Mathew J.

Source: Journal of Genetic Counseling; Feb2024, Vol. 33 Issue 1, p86-102, 17p

Homozygous loss of mouse tetraspanin CD82 enhances integrin αIIbβ3 expression and clot retraction in platelets

Authors: Uchtmann, Kristen, Park, Electa R., Bergsma, Alexis, Segula, Justin, Edick, Mathew J., Miranti, Cindy K.

Source: In Experimental Cell Research 10 December 2015 339(2):261-269

Host thiopurine methyltransferase status affects mercaptopurine antileukemic effectiveness in a murine model

Authors: Ramsey, Laura B., Janke, Laura J., Edick, Mathew J., Cheng, Cheng, Williams, Richard T., Sherr, Charles J., Evans, William E., Relling, Mary V.

Source: Pharmaocogenetics and genomics. 24(5):263-271

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100030246985.0x000001&indx=1&recIds=ETOCvdc_100030246985.0x000001

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Authors: Wilhelm, Kevin, Edick, Mathew J., Berry, Susan A., Hartnett, Michael, Brower, Amy

Source: Frontiers in Genetics; 5/26/2022, Vol. 13, p1-8, 8p

Subject Terms: GENETIC variation, MEDICAL personnel, NEWBORN screening, NEWBORN infants, NATURAL history

Geographic Terms: UNITED States

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Genetic polymorphisms in CYP3A5, CYP3A4 and NQO1 in children who developed therapy-related myeloid malignancies.

Authors: Blanco, Javier G, Edick, Mathew J, Hancock, Michael L, Winick, Naomi J, Dervieux, Thierry, Amylon, Michael D, Bash, Robert O, Behm, Frederick G, Camitta, Bruce M, Pui, Ching-Hon, Raimondi, Susana C, Relling, Mary V

Source: Pharmacogenetics; Nov2002, Vol. 12 Issue 8, p605-611, 7p

Molecular emergence of acute myeloid leukemia during treatment for acute for acute lymphoblastic....

Authors: Blanco, Javier G., Dervieux, Thierry, Edick, Mathew J., Mehta, Perdeep K., Rubnitz, Jeffrey E., Shurtleff, Sheila, Raimondi, Susana C., Behm, Frederick G., Ching-Hon Pui, Relling, Mary V.

Source: Proceedings of the National Academy of Sciences of the United States of America; 8/28/2001, Vol. 98 Issue 18, p10338, 6p, 9 Diagrams, 1 Graph

Subject Terms: MYELOID leukemia, LYMPHOBLASTIC leukemia

Genetic polymorphisms in CYP3A5, CYP3A4and NQO1in children who developed therapy-related myeloid malignancies

Authors: Blanco, Javier G, Edick, Mathew J, Hancock, Michael L, Winick, Naomi J, Dervieux, Thierry, Amylon, Michael D, Bash, Robert O, Behm, Frederick G, Camitta, Bruce M, Pui, Ching-Hon, Raimondi, Susana C, Relling, Mary V

Source: Pharmacogenetics; November 2002, Vol. 12 Issue: 8 p605-611, 7p