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Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research Ramos, Michelle A.; Bonini, Katherine E.; Scarimbolo, Laura; Kelly, Nicole R.; Insel, Beverly; Suckiel, Sabrina A.; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Lopez, Jessenia; Aguiniga, Karla Lopez; Marathe, Priya N.; Maria, Estefany; Odgis, Jacqueline A.; Rodriguez, Jessica E.; Rodriguez, Michelle A.; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M.; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas, V; McGoldrick, Patricia E.; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H.; Williams, Trinisha; Wolf, Steven M.; Yozawitz, Elissa G.; Zinberg, Randi E.; Abul-Husn, Noura S.; Bauman, Laurie J.; Diaz, George A.; Ferket, Bart S.; Greally, John M.; Jobanputra, Vaidehi; Gelb, Bruce D.; Kenny, Eimear E.; Wasserstein, Melissa P.; Horowitz, Carol R. 分享 收藏
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population Marathe, Priya N.; Suckiel, Sabrina A.; Bonini, Katherine E.; Kelly, Nicole R.; Scarimbolo, Laura; Insel, Beverly J.; Odgis, Jacqueline A.; Sebastin, Monisha; Ramos, Michelle A.; Di Biase, Miranda; Gallagher, Katie M.; Brown, Kaitlyn; Rodriguez, Jessica E.; Yelton, Nicole; Aguiniga, Karla Lopez; Rodriguez, Michelle A.; Maria, Estefany; Lopez, Jessenia; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Wasserstein, Melissa P.; Kenny, Eimear E.; Horowitz, Carol R. 分享 收藏
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial Russo, Rossana Sanchez; Gasperini, Serena; Bubb, Gillian; Neuman, Linda; Sloan, Leslie S.; Diaz, George A.; Enns, Gregory M. 分享 收藏
The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse families Suckiel, Sabrina A.; Kelly, Nicole R.; Odgis, Jacqueline A.; Gallagher, Katie M.; Sebastin, Monisha; Bonini, Katherine E.; Marathe, Priya N.; Brown, Kaitlyn; Biase, Miranda Di; 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. 分享 收藏
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial Vockley, Jerry; Sondheimer, Neal; Puurunen, Marja; Diaz, George A.; Ginevic, Ilona; Grange, Dorothy K.; Harding, Cary; Northrup, Hope; Phillips III, John A.; Searle, Shawn; Thomas, Janet A.; Zori, Roberto; Denney, William S.; Ernst, Sharon L.; Humphreys, Kristina; McWhorter, Nicole; Kurtz, Caroline; Brennan, Aoife M. 分享 收藏
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients 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.; Gelh, Bruce D. 分享 收藏
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin Lasio, Laura Duque; Leshinski, Angela C.; Ducich, Nicole H.; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B.; Hainline, Bryan E.; Basinger, Alice A.; Wilson, William G.; Diaz, George A.; Erbe, Richard W.; Koeberl, Dwight D.; Vockley, Jerry; Bedoyan, Jirair K. 分享 收藏
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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (vol 17, 437, 2022) Diaz, George A.; Giugliani, Roberto; Gufon, Nathalie; Jones, Simon A.; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Li, Jing; Armstrong, Nicole M.; Kim, Yong; Ortemann-Renon, Catherine; Kumar, Monica 分享 收藏
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA Schwahn, Bernd C.; Berry, Gerard T.; Santra, Saikat; Vernon, Hilary; Li, Hong; Merritt, Lawrence, II; Schiff, Manuel; Chabrol, Brigitte; De las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight; Burton, Barbara; Grunewald, Stephanie; Morgan, Thomas; Diaz, George; Ficicioglu, Can; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria 分享 收藏
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY Schiff, Manuel; Schwahn, Bernd C.; Chabrol, Brigitte; Merritt, J. Lawrence, II; Vockley, Jerry; Vernon, Hilary; Berry, Gerard T.; Santra, Saikat; Lee, Chung; Koeberl, Dwight; Li, Hong; Burton, Barbara; De las Heras, Javier; Diaz, George; Faria-Urbina, Mariana; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria 分享 收藏
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase adlfa enzyme replacement therapy in the ASCEND-Peds trial Giugliani, Roberto; Diaz, George; Guffon, Nathalie; Jones, Simon A.; McGovern, Margaret; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Armstrong, Nicole; Ortemann-Renon, Catherine; Kim, Yong; Kumar, Monica 分享 收藏
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results 儿童酸性鞘磷脂酶缺乏症患者中脂肪酶 α 酶替代疗法的长期安全性和临床结果: 两年结果 Diaz, George A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Mengel, Eugen; Scarpa, Maurizio; Witters, Peter; Yarramaneni, Abhimanyu; Li, Jing; Armstrong, Nicole M.; Kim, Yong; Ortemann-Renon, Catherine; Kumar, Monica 分享 收藏
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (vol 23, pg 1543, 2021) Diaz, George A.; Jones, Simon A.; Scarpa, Maurizio; Mengel, Karl Eugen; Giugliani, Roberto; Guffon, Nathalie; Batsu, Isabela; Fraser, Patricia A.; Li, Jing; Zhang, Qi; Ortemann-Renon, Catherine 分享 收藏
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Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review Bin Sawad, Aseel; Jackimiec, John; Bechter, Mark; Trucillo, Allison; Lindsley, Kristina; Bhagat, Anil; Uyei, Jennifer; Diaz, George A. 分享 收藏
Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study Abul-Husn, Noura; Kelly, Nicole; Rodriguez, Jessica; Abhyankar, Avinash; Donohue, Katherine; Brown, Kaitlyn; DiBiase, Miranda; Gallagher, Katie; Guha, Saurav; Ioele, Nicolette; Marathe, Priya; Odgis, Jacqueline; Okur, Volkan; Ramos, Michelle; Rehman, Atteeq; Sebastin, Monisha; Thomas-Wilson, Amanda; Zinberg, Randi; Diaz, George; Suckiel, Sabrina; Greally, John; Jobanputra, Vaidehi; Horowitz, Carol; Wasserstein, Melissa; Kenny, Eimear; Gelb, Bruce 分享 收藏
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TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing Sebastin, Monisha; Odgis, Jacqueline; Suckiel, Sabrina; Bonini, Katherine; Di Biase, Miranda; Brown, Kaitlyn; Marathe, Priya; Kelly, Nicole; Ramos, Michelle; Rodriguez, Jessica; Aguiniga, Karla Lopez; Lopez, Jessenia; Maria, Estefany; Rodriguez, Michelle; Yelton, Nicole; Cunningham-Rundles, Charlotte; Gallagher, Katie; McDonald, Thomas; McGoldrick, Patricia; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa; Wolf, Steven; Yozawitz, Elissa; Zinberg, Randi; Abul-Husn, Noura; Bauman, Laurie; Diaz, George; Ferket, Bart; Greally, John; Jobanputra, Vaidehi; Gelb, Bruce; Horowitz, Carol; Kenny, Eimear; Wasserstein, Melissa 分享 收藏
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