The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children by Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny

Subjects: Get full text

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy by Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González

Subjects: “…pediatric genetics…”
Get full text

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion... by Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi

Subjects: Get full text

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders by Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing Gao

Subjects: “…Pediatric genetic white matter disorder…”
Get full text

An algorithm to identify patients aged 0–3 with rare genetic disorders by Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li

Subjects: Get full text

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population by Priya N. Marathe, Sabrina A. Suckiel, Katherine E. Bonini, Nicole R. Kelly, Laura Scarimbolo, Beverly J. Insel, Jacqueline A. Odgis, Monisha Sebastin, Michelle A. Ramos, Miranda Di Biase, Katie M. Gallagher, Kaitlyn Brown, Jessica E. Rodriguez, Nicole Yelton, Karla Lopez Aguiñiga, Michelle A. Rodriguez, Estefany Maria, Jessenia Lopez, Randi E. Zinberg, George A. Diaz, John M. Greally, Noura S. Abul-Husn, Laurie J. Bauman, Bruce D. Gelb, Melissa P. Wasserstein, Eimear E. Kenny, Carol R. Horowitz

Subjects: Get full text

Editorial: Multi-modality imaging and multi-omics approach to pediatric neurogenetic disorders by Xinran Dong

Subjects: “…pediatric genetic disorder…”
Get full text

Gene therapy for pediatric genetic kidney diseases by Yi Lu, Yandong Song, Shaokai Sun, Lirong Zhang, Yupeng Chen

Subjects: Get full text

GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature by Darko Chudy, Darko Chudy, Marina Raguž, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić

Subjects: “…pediatric genetic dystonia…”
Get full text