Newborn screening for Krabbe disease in New York State: the first eight years’ experience
Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele
Published in Genetics in medicine (01.03.2016)
Published in Genetics in medicine (01.03.2016)
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Journal Article
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert
Published in International journal of neonatal screening (01.06.2021)
Published in International journal of neonatal screening (01.06.2021)
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Journal Article
Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
Arnold, Georgianne L., Saavedra-Matiz, Carlos A., Galvin-Parton, Patricia A., Erbe, Richard, DeVincentis, Ellen, Kronn, David, Mofidi, Shideh, Wasserstein, Melissa, Pellegrino, Joan E., Levy, Paul A., Adams, Darius J., Nichols, Matthew, Caggana, Michele
Published in Molecular genetics and metabolism (01.03.2010)
Published in Molecular genetics and metabolism (01.03.2010)
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Journal Article
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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Journal Article
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
Wasserstein, Melissa P., Andriola, Mary, Arnold, Georgianne, Aron, Alan, Duffner, Patricia, Erbe, Richard W., Escolar, Maria L., Estrella, Lissette, Galvin-Parton, Patricia, Iglesias, Alejandro, Kay, Denise M., Kronn, David F., Kurtzberg, Joanne, Kwon, Jennifer M., Langan, Thomas J., Levy, Paul A., Naidich, Thomas P., Orsini, Joseph J., Pellegrino, Joan E., Provenzale, James M., Wenger, David A., Caggana, Michele
Published in Genetics in medicine (01.12.2016)
Published in Genetics in medicine (01.12.2016)
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Journal Article
Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes
Chance, Phillip F., Cavalier, Laurent, Satran, Daniel, Pellegrino, Joan E., Koenig, Michel, Dobyns, William B.
Published in Journal of child neurology (01.10.1999)
Published in Journal of child neurology (01.10.1999)
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Journal Article
Myoclonus-dystonia syndrome associated with Russell Silver syndrome
Augustine, Erika F., Blackburn, Joanna, Pellegrino, Joan E., Miller, Ryan, Mink, Jonathan W.
Published in Movement disorders (01.06.2013)
Published in Movement disorders (01.06.2013)
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Journal Article
Newborn Screening for Krabbe Disease: the New York State Model
Duffner, Patricia K., MD, Caggana, Michele, ScD, Orsini, Joseph J., PhD, Wenger, David A., PhD, Patterson, Marc C., MD, Crosley, Carl J., MD, Kurtzberg, Joanne, MD, Arnold, Georgianne L., MD, Escolar, Maria L., MD, Adams, Darius J., MD, Andriola, Mary R., MD, Aron, Alan M., MD, Ciafaloni, Emma, MD, Djukic, Alexandra, MD, Erbe, Richard W., MD, Galvin-Parton, Patricia, MD, Helton, Laura E., MD, MPH, Kolodny, Edwin H., MD, Kosofsky, Barry E., MD, Kronn, David F., MD, Kwon, Jennifer M., MD, Levy, Paul A., MD, Miller-Horn, Jill, MD, Naidich, Thomas P., MD, Pellegrino, Joan E., MD, Provenzale, James M., MD, Rothman, Stanley J., MD, Wasserstein, Melissa P., MD
Published in Pediatric neurology (01.04.2009)
Published in Pediatric neurology (01.04.2009)
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Journal Article
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes
Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.
Published in JIMD Reports, Volume 15 (01.01.2015)
Published in JIMD Reports, Volume 15 (01.01.2015)
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Book Chapter
Journal Article
Genetics Casebook
Day-Salvatore, Debra, Pellegrino, Joan E, White, Mary, Fisher, Allan J, Anwar, Mujahid, Krasna, Irwin H
Published in Journal of perinatology (01.02.1999)
Published in Journal of perinatology (01.02.1999)
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Journal Article
Oculo-palatal-cerebral syndrome: a second case
Pellegrino, J E, Engel, J M, Chavez, D, Day-Salvatore, D
Published in American journal of medical genetics (15.03.2001)
Published in American journal of medical genetics (15.03.2001)
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Journal Article
Hereditary neuralgic amyotrophy : evidence for genetic homogeneity and mapping to chromosome 17q25
PELLEGRINO, J. E, GEORGE, R. A. V, BIEGEL, J, FARLOW, M. R, GARDNER, K, CARESS, J, BROWN, M. J, REBBECK, T. R, BIRD, T. D, CHANCE, P. F
Published in Human genetics (01.12.1997)
Published in Human genetics (01.12.1997)
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Journal Article
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?
Pellegrino, J E, Schnur, R E, Kline, R, Zackai, E H, Spinner, N B
Published in Human genetics (01.10.1995)
Published in Human genetics (01.10.1995)
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Journal Article
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q
Pellegrino, J E, Schnur, R E, Boghosian-Sell, L, Strathdee, G, Overhauser, J, Spinner, N B, Stump, T, Grace, K, Zackai, E H
Published in Human genetics (01.04.1996)
Published in Human genetics (01.04.1996)
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Journal Article
Clinical and molecular analysis in Joubert syndrome
Pellegrino, J E, Lensch, M W, Muenke, M, Chance, P F
Published in American journal of medical genetics (03.10.1997)
Published in American journal of medical genetics (03.10.1997)
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