Joel Charrow

  • 6768 Citations
1978 …2050

Research output per year

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Research Output

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

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 others, Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 2019, In : Blood Cells, Molecules, and Diseases. 77, p. 101-102 2 p.

Research output: Contribution to journalLetter

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Sanders, V. R., Sheldon, S. H. & Charrow, J., Feb 1 2019, In : Genetics in Medicine. 21, 2, p. 459-463 5 p.

Research output: Contribution to journalReview article

2 Scopus citations

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

17 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

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G. & 6 others, Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. & Cox, T. M., Jul 2018, In : Blood Cells, Molecules, and Diseases. 71, p. 71-74 4 p.

Research output: Contribution to journalLetter

6 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

12 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

45 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

8 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
4 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

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Balwani, M., Burrow, T. A., Charrow, J., Goker-Alpan, O., Kaplan, P., Kishnani, P. S., Mistry, P., Ruskin, J. & Weinreb, N., Feb 1 2016, In : Molecular Genetics and Metabolism. 117, 2, p. 95-103 9 p.

Research output: Contribution to journalReview article

27 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

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome

Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., Mackenzie, W. G., Manara, R., Offiah, A. C., Solano, M. L. & Theroux, M., Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 1, p. 11-18 8 p.

Research output: Contribution to journalReview article

22 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

Long-term treatment outcomes in Gaucher disease

Charrow, J. & Scott, C. R., Jul 1 2015, In : American Journal of Hematology. 90, S1, p. S19-S24

Research output: Contribution to journalReview article

27 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

74 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

129 Scopus citations
2014

Erratum: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment (Journal of Inherited Metabolic Disease (2013) 36 (543-553) DOI 10.1007/s10545-012-9528-4)

Weinreb, N. J., Goldblatt, J., Villalobos, J., Charrow, J., Cole, J. A., Kerstenetzky, M., Vom Dahl, S. & Hollak, C., Jan 1 2014, In : Journal of inherited metabolic disease. 37, 1, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

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., D'Agostino McGowan, L. & Liu, G. T., May 2014, In : Annals of neurology. 75, 5, p. 799-800 2 p.

Research output: Contribution to journalLetter

15 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

51 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

37 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

76 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
11 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

56 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

The Neurofibromatoses

Listernick, RL. & Charrow, J., 2012, Fitzpatrick’s Dermatology in General Medicine. Goldsmith, LA., Katz, SI., Gilchrest, BA., Paller, AS., Leffell, DJ. & Wolff, K. (eds.). New York: McGraw-Hill, p. 1680-1690

Research output: Chapter in Book/Report/Conference proceedingChapter

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

133 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