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Jennifer Wambach
Jennifer Wambach
Washington University School of Medicine
在 wustl.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
4702017
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
2062014
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
1172012
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
1152009
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
1152008
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
1092013
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
1072021
Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates.
C McPherson, JA Wambach
Neonatal Network 37 (3), 2018
872018
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
872001
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
822017
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
682021
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
682019
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
612018
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
572012
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
562014
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
552016
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
542018
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
532010
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
512019
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
482010
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