Joel Charrow

  • 6820 Citations
1978 …2020

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2020

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R. & Basheeruddin, K., Jan 1 2020, In : International Journal of Neonatal Screening. 6, 1, ijns6010004.

Research output: Contribution to journalArticle

Open Access

Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation

Bryant, E. M., Millichap, J. J., Spinelli, E., Calhoun, J. D., Miller, C., Giannelli, J., Wolak, J., Sanders, V., Carvill, G. L. & Charrow, J., Jun 1 2020, In : American Journal of Medical Genetics, Part A. 182, 6, p. 1460-1465 6 p.

Research output: Contribution to journalArticle

2019

C-type natriuretic peptide analogue therapy in children with achondroplasia

Savarirayan, R., Irving, M., Bacino, C. A., Bostwick, B., Charrow, J., Cormier-Daire, V., Le Quan Sang, K. H., Dickson, P., Harmatz, P., Phillips, J., Owen, N., Cherukuri, A., Jayaram, K., Jeha, G. S., Larimore, K., Chan, M. L., Labed, A. H., Day, J. & Hoover-fong, J., Jul 4 2019, In : New England Journal of Medicine. 381, 1, p. 25-35 11 p.

Research output: Contribution to journalArticle

18 Scopus citations
2 Scopus citations
2018

Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial

Charrow, J., Fraga, C., Gu, X., Ida, H., Longo, N., Lukina, E., Nonino, A., Gaemers, S. J. M., Jouvin, M. H., Li, J., Wu, Y., Xue, Y. & Peterschmitt, M. J., Mar 2018, In : Molecular Genetics and Metabolism. 123, 3, p. 347-356 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Schaaf-Yang syndrome overview: Report of 78 individuals

McCarthy, J., Lupo, P. J., Kovar, E., Rech, M., Bostwick, B., Scott, D., Kraft, K., Roscioli, T., Charrow, J., Schrier Vergano, S. A., Lose, E., Smiegel, R., Lacassie, Y. & Schaaf, C. P., Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2564-2574 11 p.

Research output: Contribution to journalArticle

13 Scopus citations

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site

Zheng, J., Chen, L., Skinner, O. S., Ysselstein, D., Remis, J., Lansbury, P., Skerlj, R., Mrosek, M., Heunisch, U., Krapp, S., Charrow, J., Schwake, M., Kelleher, N. L., Silverman, R. B. & Krainc, D., May 9 2018, In : Journal of the American Chemical Society. 140, 18, p. 5914-5924 11 p.

Research output: Contribution to journalArticle

8 Scopus citations
2017

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease

Elstein, D., Burrow, T. A., Charrow, J., Giraldo, P., Mehta, A., Pastores, G. M., Lee, H. M., Mellgard, B. & Zimran, A., Jan 1 2017, In : Molecular Genetics and Metabolism. 120, 1-2, p. 111-115 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Stepensky, P., Chacón-Flores, M., Kim, K. H., Abuzaitoun, O., Bautista-Santos, A., Simanovsky, N., Siliqi, D., Altamura, D., Méndez-Godoy, A., Gijsbers, A., Eddin, A. N., Dor, T., Charrow, J., Sánchez-Puig, N. & Elpeleg, O., Aug 1 2017, In : Journal of medical genetics. 54, 8, p. 558-566 9 p.

Research output: Contribution to journalArticle

36 Scopus citations

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Burton, B. K., Charrow, J., Hoganson, G. E., Waggoner, D., Tinkle, B., Braddock, S. R., Schneider, M., Grange, D. K., Nash, C., Shryock, H., Barnett, R., Shao, R., Basheeruddin, K. & Dizikes, G., Nov 2017, In : Journal of Pediatrics. 190, p. 130-135 6 p.

Research output: Contribution to journalArticle

53 Scopus citations

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Mistry, P. K., Batista, J. L., Andersson, H. C., Balwani, M., Burrow, T. A., Charrow, J., Kaplan, P., Khan, A., Kishnani, P. S., Kolodny, E. H., Rosenbloom, B., Scott, C. R. & Weinreb, N., Sep 1 2017, In : American Journal of Hematology. 92, 9, p. 929-939 11 p.

Research output: Contribution to journalArticle

9 Scopus citations
10 Scopus citations
2016

Carrier screening in the era of expanding genetic technology

Arjunan, A., Litwack, K., Collins, N. & Charrow, J., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1214-1217 4 p.

Research output: Contribution to journalArticle

8 Scopus citations
5 Scopus citations

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto, M., Myung, C., Beirnes, K., Choi, K., Asakura, Y., Bokenkamp, A., Bonneau, D., Brugnara, M., Charrow, J., Colin, E., Davis, A., Deschenes, G., Gentile, M., Giordano, M., Gormley, A. K., Govender, R., Joseph, M., Keller, K., Lerut, E., Levtchenko, E. & 11 others, Massella, L., Mayfield, C., Najafian, B., Parham, D., Spranger, J., Stenzel, P., Yis, U., Yu, Z., Zonana, J., Hendson, G. & Boerkoel, C. F., Nov 5 2016, In : Orphanet journal of rare diseases. 11, 1, p. 1-12 12 p.

Research output: Contribution to journalArticle

6 Scopus citations

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase

Smith, L., Rhead, W., Charrow, J., Shankar, S. P., Bavdekar, A., Longo, N., Mardach, R., Harmatz, P., Hangartner, T., Lee, H. M., Crombez, E. & Pastores, G. M., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 164-171 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

Hopkin, R. J., Cabrera, G., Charrow, J., Lemay, R., Martins, A. M., Mauer, M., Ortiz, A., Patel, M. R., Sims, K., Waldek, S., Warnock, D. G. & Wilcox, W. R., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 151-159 9 p.

Research output: Contribution to journalArticle

12 Scopus citations

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry

Ortiz, A., Abiose, A., Bichet, D. G., Cabrera, G., Charrow, J., Germain, D. P., Hopkin, R. J., Jovanovic, A., Linhart, A., Maruti, S. S., Mauer, M., Oliveira, J. P., Patel, M. R., Politei, J., Waldek, S., Wanner, C., Yoo, H. W. & Warnock, D. G., Jul 1 2016, In : Journal of medical genetics. 53, 7, p. 495-502 8 p.

Research output: Contribution to journalArticle

40 Scopus citations

Treatment of Fabry's disease with the pharmacologic chaperone migalastat

Germain, D. P., Hughes, D. A., Nicholls, K., Bichet, D. G., Giugliani, R., Wilcox, W. R., Feliciani, C., Shankar, S. P., Ezgu, F., Amartino, H., Bratkovic, D., Feldt-Rasmussen, U., Nedd, K., Sharaf El Din, U., Lourenco, C. M., Banikazemi, M., Charrow, J., Dasouki, M., Finegold, D., Giraldo, P. & 20 others, Goker-Alpan, O., Longo, N., Scott, C. R., Torra, R., Tuffaha, A., Jovanovic, A., Waldek, S., Packman, S., Ludington, E., Viereck, C., Kirk, J., Yu, J., Benjamin, E. R., Johnson, F., Lockhart, D. J., Skuban, N., Castelli, J., Barth, J., Barlow, C. & Schiffmann, R., Aug 11 2016, In : New England Journal of Medicine. 375, 6, p. 545-555 11 p.

Research output: Contribution to journalArticle

141 Scopus citations

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G. A., McCracken, E., Conway, R., Enns, G. M., Starr, J., Wang, R., Abdenur, J. E., Sanchez-de-Toledo, J. & Marsden, D. L., Nov 1 2016, In : Molecular Genetics and Metabolism. 119, 3, p. 223-231 9 p.

Research output: Contribution to journalArticle

22 Scopus citations
2015

Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy

Warnock, D. G., Thomas, C. P., Vujkovac, B., Campbell, R. C., Charrow, J., Laney, D. A., Jackson, L. L., Wilcox, W. R. & Wanner, C., Jan 1 2015, In : Journal of medical genetics. 52, 12, p. 860-866 7 p.

Research output: Contribution to journalArticle

19 Scopus citations

Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period

Ulm, E., Feero, W. G., Dineen, R., Charrow, J. & Wicklund, C., Jun 18 2015, In : Journal of Genetic Counseling. 24, 3, p. 452-463 12 p.

Research output: Contribution to journalArticle

8 Scopus citations
1 Scopus citations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American journal of human genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

82 Scopus citations

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Case, L. E., Bjartmar, C., Morgan, C., Casey, R., Charrow, J., Clancy, J. P., Dasouki, M., DeArmey, S., Nedd, K., Nevins, M., Peters, H., Phillips, D., Spigelman, Z., Tifft, C. & Kishnani, P. S., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 321-332 12 p.

Research output: Contribution to journalArticle

24 Scopus citations

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease

Elstein, D., Mehta, A., Hughes, D. A., Giraldo, P., Charrow, J., Smith, L., Shankar, S. P., Hangartner, T. N., Kunes, Y., Wang, N., Crombez, E. & Zimran, A., Jul 1 2015, In : American Journal of Hematology. 90, 7, p. 592-597 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois

Hart, A., Petros, M., Charrow, J., Nash, C. & Wicklund, C. A., Jun 18 2015, In : Journal of Genetic Counseling. 24, 3, p. 482-490 9 p.

Research output: Contribution to journalArticle

Strabismus in patients with neurofibromatosis type 1-associated optic pathway glioma

Parness-Yossifon, R., Listernick, R. H., Charrow, J., Barto, H. & Lasky, J., Oct 1 2015, In : Journal of AAPOS. 19, 5, p. 422-425 4 p., 2272.

Research output: Contribution to journalArticle

3 Scopus citations

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease

Germain, D. P., Charrow, J., Desnick, R. J., Guffon, N., Kempf, J., Lachmann, R. H., Lemay, R., Linthorst, G. E., Packman, S., Ronald Scott, C., Waldek, S., Warnock, D. G., Weinreb, N. J. & Wilcox, W. R., Jan 1 2015, In : Journal of medical genetics. 52, 5, p. 353-358 6 p.

Research output: Contribution to journalArticle

132 Scopus citations
2013

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

Banugaria, S. G., Prater, S. N., Patel, T. T., DeArmey, S. M., Milleson, C., Sheets, K. B., Bali, D. S., Rehder, C. W., Raiman, J. A. J., Wang, R. A., Labarthe, F., Charrow, J., Harmatz, P., Chakraborty, P., Rosenberg, A. S. & Kishnani, P. S., Jun 25 2013, In : PloS one. 8, 6, e67052.

Research output: Contribution to journalArticle

52 Scopus citations

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: Data from the Fabry Registry

Germain, D. P., Weidemann, F., Abiose, A., Patel, M. R., Cizmarik, M., Cole, J. A., Beitner-Johnson, D., Benistan, K., Cabrera, G., Charrow, J., Kantola, I., Linhart, A., Nicholls, K., Niemann, M., Scott, C. R., Sims, K., Waldek, S., Warnock, D. G. & Strotmann, J., Dec 1 2013, In : Genetics in Medicine. 15, 12, p. 958-965 8 p.

Research output: Contribution to journalArticle

38 Scopus citations

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Weinreb, N. J., Goldblatt, J., Villalobos, J., Charrow, J., Cole, J. A., Kerstenetzky, M., Vom Dahl, S. & Hollak, C., Jan 1 2013, In : Journal of inherited metabolic disease. 36, 3, p. 543-553 11 p.

Research output: Contribution to journalArticle

77 Scopus citations

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase

Zimran, A., Pastores, G. M., Tylki-Szymanska, A., Hughes, D. A., Elstein, D., Mardach, R., Eng, C., Smith, L., Heisel-Kurth, M., Charrow, J., Harmatz, P., Fernhoff, P., Rhead, W., Longo, N., Giraldo, P., Ruiz, J. A., Zahrieh, D., Crombez, E. & Grabowski, G. A., Mar 1 2013, In : American Journal of Hematology. 88, 3, p. 172-178 7 p.

Research output: Contribution to journalArticle

37 Scopus citations
2012

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., Dehaai, K. A., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C. & 16 others, Kohler, K., Lewis, D. B., Massella, L., Mcleod, D. R., Milford, D. V., Nobili, F., Olney, A. H., Semerci, C. N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M. & Boerkoel, C. F., Jul 2012, In : Journal of Dental Research. 91, p. S29-S37

Research output: Contribution to journalArticle

16 Scopus citations

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Van der Ploeg, A. T., Barohn, R., Carlson, L., Charrow, J., Clemens, P. R., Hopkin, R. J., Kishnani, P. S., Laforêt, P., Morgan, C., Nations, S., Pestronk, A., Plotkin, H., Rosenbloom, B. E., Sims, K. B. & Tsao, E., Nov 1 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 456-461 6 p.

Research output: Contribution to journalArticle

58 Scopus citations

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

Banugaria, S. G., Patel, T. T., Mackey, J., Das, S., Amalfitano, A., Rosenberg, A. S., Charrow, J., Chen, Y. T. & Kishnani, P. S., Apr 1 2012, In : Molecular Genetics and Metabolism. 105, 4, p. 677-680 4 p.

Research output: Contribution to journalArticle

44 Scopus citations

Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto, M., Yu, Z., Stenzel, P., Clewing, J. M., Najafian, B., Mayfield, C., Hendson, G., Weinkauf, J. G., Gormley, A. K., Parham, D. M., Ponniah, U., André, J. L., Asakura, Y., Basiratnia, M., Bogdanović, R., Bokenkamp, A., Bonneau, D., Buck, A., Charrow, J., Cochat, P. & 27 others, Cordeiro, I., Deschenes, G., Fenkçi, M. S., Frange, P., Fründ, S., Fryssira, H., Guillen-Navarro, E., Keller, K., Kirmani, S., Kobelka, C., Lamfers, P., Levtchenko, E., Lewis, D. B., Massella, L., McLeod, D. R., Milford, D. V., Nobili, F., Saraiva, J. M., Semerci, C. N., Shoemaker, L., Stajić, N., Stein, A., Taha, D., Wand, D., Zonana, J., Lücke, T. & Boerkoel, C. F., Sep 25 2012, In : Orphanet journal of rare diseases. 7, 1, 70.

Research output: Contribution to journalArticle

18 Scopus citations

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: A multicenter retrospective analysis

Fisher, M. J., Loguidice, M., Gutmann, D. H., Listernick, R., Ferner, R. E., Ullrich, N. J., Packer, R. J., Tabori, U., Hoffman, R. O., Ardern-Holmes, S. L., Hummel, T. R., Hargrave, D. R., Bouffet, E., Charrow, J., Bilaniuk, L. T., Balcer, L. J. & Liu, G. T., Jun 1 2012, In : Neuro-oncology. 14, 6, p. 790-797 8 p.

Research output: Contribution to journalArticle

134 Scopus citations
2011

Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient

Pena, L. & Charrow, J., Feb 1 2011, In : American Journal of Medical Genetics, Part A. 155, 2, p. 415-417 3 p.

Research output: Contribution to journalArticle

14 Scopus citations
23 Scopus citations
7 Scopus citations
2010

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Pena, L., Kim, K. H. & Charrow, J., May 1 2010, In : Neuromuscular Disorders. 20, 5, p. 337-339 3 p.

Research output: Contribution to journalArticle

19 Scopus citations

Neurofibromatosis type 1 and high-grade tumors of the central nervous system

Rosenfeld, A., Listernick, R. H., Charrow, J. & Goldman, S., May 1 2010, In : Child's Nervous System. 26, 5, p. 663-667 5 p.

Research output: Contribution to journalArticle

48 Scopus citations
2009

A 14-year-old boy with pain in hands and feet

Charrow, J., Jul 13 2009, In : Pediatric Annals. 38, 4, p. 190-192 3 p.

Research output: Contribution to journalArticle

7 Scopus citations

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

Grabowski, G. A., Kacena, K., Cole, J. A., Hollak, C. E. M., Zhang, L., Yee, J., Mistry, P. K., Zimran, A., Charrow, J. & Vom Dahl, S., Feb 1 2009, In : Genetics in Medicine. 11, 2, p. 92-100 9 p.

Research output: Contribution to journalArticle

79 Scopus citations

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing

Schneider, A., Nakagawa, S., Keep, R., Dorsainville, D., Charrow, J., Aleck, K., Hoffman, J., Minkoff, S., Finegold, D., Sun, W., Spencer, A., Lebow, J., Zhan, J., Apfelroth, S., Schreiber-Agus, N. & Gross, S., Nov 1 2009, In : American Journal of Medical Genetics, Part A. 149, 11, p. 2444-2447 4 p.

Research output: Contribution to journalArticle

20 Scopus citations

Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome

Sentongo, T. A., Azzam, R. & Charrow, J., Apr 1 2009, In : Journal of pediatric gastroenterology and nutrition. 48, 4, p. 495-497 3 p.

Research output: Contribution to journalArticle

19 Scopus citations
2008

Documented transient third-degree atrioventricular block and asystole in a child with familial dysautonomia

Rotstein, A., Charrow, J. & Deal, B., Jan 1 2008, In : Pediatric Cardiology. 29, 1, p. 202-204 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies

Epstein, L. G., Jalali, A., Chary, A. N., Khan, S., Ross, J., Coppinger, J., Carlson, K., Charrow, J., Burton, B., Zimmerman, D., Curran, J., Kim, F., Nguyen, P., Burrowes, D., Angle, B., Stack, C., Shaffer, L., Kessler, J. A. & Bassuk, A. G., Apr 1 2008, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 82, 4, p. 200-210 11 p.

Research output: Contribution to journalArticle

1 Scopus citations