Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott, C Ronald
Published in Genetics in medicine (01.12.2017)
Published in Genetics in medicine (01.12.2017)
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Journal Article
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Wasserstein, Melissa P, Caggana, Michele, Bailey, Sean M, Desnick, Robert J, Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R, Kornreich, Ruth, Kupchik, S Gabriel, Martin, Monica, Nafday, Suhas M, Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Journal Article
Types A and B Niemann-Pick disease
Schuchman, Edward H., PhD, Wasserstein, Melissa P., MD
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.03.2015)
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Journal Article
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
McGovern, Margaret M, Wasserstein, Melissa P, Bembi, Bruno, Giugliani, Roberto, Mengel, K Eugen, Vanier, Marie T, Zhang, Qi, Peterschmitt, M Judith
Published in Orphanet journal of rare diseases (10.05.2021)
Published in Orphanet journal of rare diseases (10.05.2021)
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Journal Article
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults
Lachmann, Robin H, Diaz, George A, Wasserstein, Melissa P, Armstrong, Nicole M, Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
Published in Orphanet journal of rare diseases (25.04.2023)
Published in Orphanet journal of rare diseases (25.04.2023)
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Journal Article
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Wasserstein, Melissa P., Jones, Simon A., Soran, Handrean, Diaz, George A., Lippa, Natalie, Thurberg, Beth L., Culm-Merdek, Kerry, Shamiyeh, Elias, Inguilizian, Haig, Cox, Gerald F., Puga, Ana Cristina
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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Journal Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
Wasserstein, Melissa P, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C, Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L, Yarramaneni, Abhimanyu, Armstrong, Nicole M, Kim, Yong, Kumar, Monica
Published in Orphanet journal of rare diseases (02.12.2023)
Published in Orphanet journal of rare diseases (02.12.2023)
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Journal Article
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
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P, Vockley, Jerry, Burton, Barbara K, Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A
Published in Orphanet journal of rare diseases (04.07.2018)
Published in Orphanet journal of rare diseases (04.07.2018)
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Journal Article
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Odgis, Jacqueline A., Gallagher, Katie M., Rehman, Atteeq U., Marathe, Priya N., Bonini, Katherine E., Sebastin, Monisha, Di Biase, Miranda, Brown, Kaitlyn, Kelly, Nicole R., Ramos, Michelle A., Thomas‐Wilson, Amanda, Guha, Saurav, Okur, Volkan, Ganapathi, Mythily, Elkhoury, Lama, Edelmann, Lisa, Zinberg, Randi E., Abul‐Husn, Noura S., Diaz, George A., Greally, John M., Suckiel, Sabrina A., Jobanputra, Vaidehi, Horowitz, Carol R., Kenny, Eimear E., Wasserstein, Melissa P., Gelb, Bruce D.
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Journal Article
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
Boychuk, Natalie A, Mulrooney, Niamh S, Kelly, Nicole R, Goldenberg, Aaron J, Silver, Ellen J, Wasserstein, Melissa P
Published in International journal of neonatal screening (10.11.2022)
Published in International journal of neonatal screening (10.11.2022)
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Journal Article
The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
Hoban, Hannah G., Yip, Tiffany A., Chau, Joanna C., Bensen, Jeannette T., Desrosiers, Lauren R., Finnila, Candice R., Hindorff, Lucia A., Kelly, Nicole R., Lynch, Frances L., Rolf, Bradley A., Smith, Hadley S., Wasserstein, Melissa P., Hassmiller Lich, Kristen
Published in Clinical and translational science (01.01.2024)
Published in Clinical and translational science (01.01.2024)
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Journal Article
ScreenPlus: A comprehensive, multi-disorder newborn screening program
Kelly, Nicole R., Orsini, Joseph J., Goldenberg, Aaron J., Mulrooney, Niamh S., Boychuk, Natalie A., Clarke, Megan J., Paleologos, Katrina, Martin, Monica M., McNeight, Hannah, Caggana, Michele, Bailey, Sean M., Eiland, Lisa R., Ganesh, Jaya, Kupchik, Gabriel, Lumba, Rishi, Nafday, Suhas, Stroustrup, Annemarie, Gelb, Michael H., Wasserstein, Melissa P.
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results
Watnick, Dana, Odgis, Jacqueline A., Suckiel, Sabrina A., Gallagher, Katie M., Teitelman, Nehama, Donohue, Katherine E., Gelb, Bruce D., Kenny, Eimear E., Wasserstein, Melissa P., Horowitz, Carol R., Dolan, Siobhan M., Bauman, Laurie J.
Published in HGG advances (08.04.2021)
Published in HGG advances (08.04.2021)
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Journal Article
The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations
Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.
Published in American journal of human genetics (01.12.2002)
Published in American journal of human genetics (01.12.2002)
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Journal Article
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Wasserstein, Melissa P., Diaz, George A., Lachmann, Robin H., Jouvin, Marie-Hélène, Nandy, Indrani, Ji, Allena J., Puga, Ana Cristina
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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Journal Article
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
McGovern, Margaret M, Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K, Schuchman, Edward H, Wasserstein, Melissa P
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Journal Article
The future of newborn screening for lysosomal disorders
Wasserstein, Melissa P., Orsini, Joseph J., Goldenberg, Aaron, Caggana, Michele, Levy, Paul A., Breilyn, Margo, Gelb, Michael H.
Published in Neuroscience letters (24.08.2021)
Published in Neuroscience letters (24.08.2021)
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Journal Article