Differentiation of human pluripotent stem cells into functional lung alveolar epithelial cells A Jacob, M Morley, F Hawkins, KB McCauley, JC Jean, H Heins, CL Na, ... Cell stem cell 21 (4), 472-488. e10, 2017 | 470 | 2017 |
Genotype–phenotype correlations for infants and children with ABCA3 deficiency JA Wambach, AM Casey, MP Fishman, DJ Wegner, SE Wert, FS Cole, ... American journal of respiratory and critical care medicine 189 (12), 1538-1543, 2014 | 206 | 2014 |
Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome JA Wambach, DJ Wegner, K DePass, H Heins, TE Druley, RD Mitra, P An, ... Pediatrics 130 (6), e1575-e1582, 2012 | 117 | 2012 |
Women’s lifelong exposure to neighborhood poverty and low birth weight: a population-based study JW Collins, J Wambach, RJ David, KM Rankin Maternal and Child Health Journal 13, 326-333, 2009 | 115 | 2009 |
Population and disease-based prevalence of the common mutations associated with surfactant deficiency TH Garmany, JA Wambach, HB Heins, JM Watkins-Torry, DJ Wegner, ... Pediatric research 63 (6), 645-649, 2008 | 115 | 2008 |
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain P Sen, Y Yang, C Navarro, I Silva, P Szafranski, KE Kolodziejska, ... Human mutation 34 (6), 801-811, 2013 | 109 | 2013 |
Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial ID Krantz, L Medne, JM Weatherly, KT Wild, S Biswas, B Devkota, ... JAMA pediatrics 175 (12), 1218-1226, 2021 | 107 | 2021 |
Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates. C McPherson, JA Wambach Neonatal Network 37 (3), 2018 | 87 | 2018 |
Gastrointestinal polyps in children: advances in molecular genetics, diagnosis, and management J Corredor, J Wambach, J Barnard The Journal of pediatrics 138 (5), 621-628, 2001 | 87 | 2001 |
Outcomes of lung transplantation for infants and children with genetic disorders of surfactant metabolism WB Eldridge, Q Zhang, A Faro, SC Sweet, P Eghtesady, A Hamvas, ... The Journal of pediatrics 184, 157-164. e2, 2017 | 82 | 2017 |
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease KD Alysandratos, SJ Russo, A Petcherski, EP Taddeo, R Acín-Pérez, ... Cell reports 36 (9), 2021 | 68 | 2021 |
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 68 | 2019 |
Bi-allelic POLR3A loss-of-function variants cause autosomal-recessive Wiedemann-Rautenstrauch syndrome JA Wambach, DJ Wegner, N Patni, M Kircher, MC Willing, D Baldridge, ... The American Journal of Human Genetics 103 (6), 968-975, 2018 | 61 | 2018 |
An intronic ABCA3 mutation that is responsible for respiratory disease A Agrawal, A Hamvas, F Cole, JA Wambach, D Wegner, C Coghill, ... Pediatric research 71 (6), 633-637, 2012 | 57 | 2012 |
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of … P Szafranski, AV Dharmadhikari, JA Wambach, CT Towe, FV White, ... American Journal of Medical Genetics Part A 164 (8), 2013-2019, 2014 | 56 | 2014 |
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome JA Wambach, P Yang, DJ Wegner, HB Heins, LN Kaliberova, ... American journal of respiratory cell and molecular biology 55 (5), 716-721, 2016 | 55 | 2016 |
Infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins who underwent bilateral lung transplantation CT Towe, FV White, RM Grady, SC Sweet, P Eghtesady, DJ Wegner, ... The Journal of pediatrics 194, 158-164. e1, 2018 | 54 | 2018 |
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription JA Wambach, P Yang, DJ Wegner, P An, BP Hackett, FS Cole, A Hamvas Pediatric research 68 (3), 216-220, 2010 | 53 | 2010 |
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 51 | 2019 |
Successful sulfonylurea treatment of an insulin‐naïve neonate with diabetes mellitus due to a KCNJ11 mutation JA Wambach, BA Marshall, JC Koster, NH White, CG Nichols Pediatric diabetes 11 (4), 286-288, 2010 | 48 | 2010 |