Newborn screening for Krabbe disease in New York State: the first eight years’ experience von 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

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Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report von Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert

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Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State von 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

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease von 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

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State von 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

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Myoclonus-dystonia syndrome associated with Russell Silver syndrome von Augustine, Erika F., Blackburn, Joanna, Pellegrino, Joan E., Miller, Ryan, Mink, Jonathan W.

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Newborn Screening for Krabbe Disease: the New York State Model von 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

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Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes von Chance, Phillip F., Cavalier, Laurent, Satran, Daniel, Pellegrino, Joan E., Koenig, Michel, Dobyns, William B.

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Postpartum “Psychosis” in Mild Argininosuccinate Synthetase Deficiency von Enns, Gregory M., O'Brien, William E., Kobayashi, Keiko, Shinzawa, Haruhide, Pellegrino, Joan E.

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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 von Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.

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Genetics Casebook von Day-Salvatore, Debra, Pellegrino, Joan E, White, Mary, Fisher, Allan J, Anwar, Mujahid, Krasna, Irwin H

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Hereditary neuralgic amyotrophy : evidence for genetic homogeneity and mapping to chromosome 17q25 von 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

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Hepatic hemangioendothelioma: Prenatal sonographic findings and evolution of the lesion von Meirowitz, Natalie B., Guzman, Edwin R., Underberg‐Davis, Sharon J., Pellegrino, Joan E., Vintzileos, Anthony M.

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Oculo-palatal-cerebral syndrome: A second case von Pellegrino, Joan E., Engel, J. Mark, Chavez, Donna, Day-Salvatore, Debra

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Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito : is there a role for the P gene ? von PELLEGRINO, J. E, SCHNUR, R. E, KLINE, R, ZACKAI, E. H, SPINNER, N. B

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Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report von Corre, Camille S, Matern, Dietrich, Pellegrino, Joan E, Saavedra-Matiz, Carlos A, Orsini, Joseph J, Thompson-Stone, Robert

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Ablepharon macrostomia syndrome with associated cutis laxa : possible localization to 18q von PELLEGRINO, J. E, SCHNUR, R. E, BOGHOSIAN-SELL, L, STRATHDEE, G, OVERHAUSER, J, SPINNER, N. B, STUMP, T, GRACE, K, ZACKAI, E. H

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Hepatic hemangioendothelioma: Prenatal sonographic findings and evolution of the lesion von Meirowitz, Natalie B, Guzman, Edwin R, Underberg-Davis, Sharon J, Pellegrino, Joan E, Vintzileos, Anthony M

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Myoclonus-dystonia syndrome associated with Russell Silver syndrome von Augustine, Erika F, Blackburn, Joanna, Pellegrino, Joan E, Miller, Ryan, Mink, Jonathan W

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Clinical and molecular analysis in Joubert syndrome von Pellegrino, Joan E., Lensch, M. William, Muenke, Maxmilian, Chance, Phillip F.

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