Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

por Breilyn, Margo Sheck, Zhang, Wenyue, Yu, Chunli, Wasserstein, Melissa P.
Publicado 2021

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report

por Profitlich, Laurie, Kirmse, Brian, Wasserstein, Melissa P, Diaz, George, Srivastava, Shubhika
Publicado 2009

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders

por Boychuk, Natalie A., Mulrooney, Niamh S., Kelly, Nicole R., Goldenberg, Aaron J., Silver, Ellen J., Wasserstein, Melissa P.
Publicado 2022

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

por Lachmann, Robin H., Diaz, George A., Wasserstein, Melissa P., Armstrong, Nicole M., Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
Publicado 2023

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

por Thurberg, Beth L., Wasserstein, Melissa P., Jones, Simon A., Schiano, Thomas D., Cox, Gerald F., Puga, Ana Cristina
Publicado 2016

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

por Wasserstein, Melissa P., Diaz, George A., Lachmann, Robin H., Jouvin, Marie-Hélène, Nandy, Indrani, Ji, Allena J., Puga, Ana Cristina
Publicado 2018

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

por McGovern, Margaret M., Wasserstein, Melissa P., Bembi, Bruno, Giugliani, Roberto, Mengel, K. Eugen, Vanier, Marie T., Zhang, Qi, Peterschmitt, M. Judith
Publicado 2021

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

por 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.
Publicado 2018

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

por 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.
Publicado 2017

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

por 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
Publicado 2017

“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results

por 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.
Publicado 2021

The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants

por 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.
Publicado 2018

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 tr...

por 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
Publicado 2023

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families

por Suckiel, Sabrina A., Kelly, Nicole R., Odgis, Jacqueline A., Gallagher, Katie M., Sebastin, Monisha, Bonini, Katherine E., Marathe, Priya N., Brown, Kaitlyn, Di Biase, Miranda, Ramos, Michelle A., Rodriguez, Jessica E., Scarimbolo, Laura, Insel, Beverly J., Ferar, Kathleen D.M., Zinberg, Randi E., Diaz, George A., Greally, John M., Abul-Husn, Noura S., Bauman, Laurie J., Gelb, Bruce D., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E.
Publicado 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

por Abul-Husn, Noura S., Marathe, Priya N., Kelly, Nicole R., Bonini, Katherine E., Sebastin, Monisha, Odgis, Jacqueline A., Abhyankar, Avinash, Brown, Kaitlyn, Di Biase, Miranda, Gallagher, Katie M., Guha, Saurav, Ioele, Nicolette, Okur, Volkan, Ramos, Michelle A., Rodriguez, Jessica E., Rehman, Atteeq U., Thomas-Wilson, Amanda, Edelmann, Lisa, Zinberg, Randi E., Diaz, George A., Greally, John M., Jobanputra, Vaidehi, Suckiel, Sabrina A., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E., Gelb, Bruce D.
Publicado 2023

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

por Suckiel, Sabrina A., Odgis, Jaqueline A., Gallagher, Katie M., Rodriguez, Jessica E., Watnick, Dana, Bertier, Gabrielle, Sebastin, Monisha, Yelton, Nicole, Maria, Estefany, Lopez, Jessenia, Ramos, Michelle, Kelly, Nicole, Teitelman, Nehama, Beren, Faygel, Kaszemacher, Tom, Davis, Kojo, Laguerre, Irma, Richardson, Lynne D., Diaz, George A., Pearson, Nathaniel M., Ellis, Stephen B., Stolte, Christian, Robinson, Mimsie, Kovatch, Patricia, Horowitz, Carol R., Gelb, Bruce D., Greally, John M., Bauman, Laurie J., Zinberg, Randi E., Abul-Husn, Noura S., Wasserstein, Melissa P., Kenny, Eimear E.
Publicado 2021

The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

por Sebastin, Monisha, Odgis, Jacqueline A., Suckiel, Sabrina A., Bonini, Katherine E., Di Biase, Miranda, Brown, Kaitlyn, Marathe, Priya, Kelly, Nicole R., Ramos, Michelle A., Rodriguez, Jessica E., Aguiñiga, Karla López, Lopez, Jessenia, Maria, Estefany, Rodriguez, Michelle A., Yelton, Nicole M., Cunningham-Rundles, Charlotte, Gallagher, Katie, McDonald, Thomas V., McGoldrick, Patricia E., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Wolf, Steven M., Yozawitz, Elissa, Zinberg, Randi E., Abul-Husn, Noura S., Bauman, Laurie J., Diaz, George A., Ferket, Bart S., Greally, John M., Jobanputra, Vaidehi, Gelb, Bruce D., Horowitz, Carol R., Kenny, Eimear E., Wasserstein, Melissa P.
Publicado 2023

The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

por Odgis, Jacqueline A., Gallagher, Katie M., Suckiel, Sabrina A., Donohue, Katherine E., Ramos, Michelle A., Kelly, Nicole R., Bertier, Gabrielle, Blackburn, Christina, Brown, Kaitlyn, Fielding, Lena, Lopez, Jessenia, Aguiniga, Karla Lopez, Maria, Estefany, Rodriguez, Jessica E., Sebastin, Monisha, Teitelman, Nehama, Watnick, Dana, Yelton, Nicole M., Abhyankar, Avinash, Abul-Husn, Noura S., Baum, Aaron, Bauman, Laurie J., Beal, Jules C., Bloom, Toby, Cunningham-Rundles, Charlotte, Diaz, George A., Dolan, Siobhan, Ferket, Bart S., Jobanputra, Vaidehi, Kovatch, Patricia, McDonald, Thomas V., McGoldrick, Patricia E., Rhodes, Rosamond, Rinke, Michael L., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Stolte, Christian, Wolf, Steven M., Yozawitz, Elissa, Zinberg, Randi E., Greally, John M., Gelb, Bruce D., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E.
Publicado 2021

Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children

por Odgis, Jacqueline A., Gallagher, Katie M., Suckiel, Sabrina A., Donohue, Katherine E., Ramos, Michelle A., Kelly, Nicole R., Bertier, Gabrielle, Blackburn, Christina, Brown, Kaitlyn, Fielding, Lena, Lopez, Jessenia, Aguiniga, Karla Lopez, Maria, Estefany, Rodriguez, Jessica E., Sebastin, Monisha, Teitelman, Nehama, Watnick, Dana, Yelton, Nicole M., Abhyankar, Avinash, Abul-Husn, Noura S., Baum, Aaron, Bauman, Laurie J., Beal, Jules C., Bloom, Toby, Cunningham-Rundles, Charlotte, Diaz, George A., Dolan, Siobhan, Ferket, Bart S., Jobanputra, Vaidehi, Kovatch, Patricia, McDonald, Thomas V., McGoldrick, Patricia E., Rhodes, Rosamond, Rinke, Michael L., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Stolte, Christian, Wolf, Steven M., Yozawitz, Elissa, Zinberg, Randi E., Greally, John M., Gelb, Bruce D., Horowitz, Carol R., Wasserstein, Melissa P., Kenny, Eimear E.
Publicado 2021