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Wambach, Jennifer
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1

Human pluripotent stem cell modeling of alveolar type 2 cel..:

Sun, Yuliang L. ; Hennessey, Erin E. ; Heins, Hillary...
Journal of Clinical Investigation.  134 (2024)  2 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

Dominant missense variants in SREBF2 are associated with co..:

Moulton, Matthew J. ; Atala, Kristhen ; Zheng, Yiming...
Genetics in Medicine.  26 (2024)  9 - p. 101174 , 2024
Link: https://doi.org/10.1016/..
 
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3

Human pluripotent stem cell modeling of alveolar type 2 cel..:

Sun, Yuliang L ; Hennessey, Erin E ; Heins, Hillary...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10786693/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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4

Provision and availability of genomic medicine services in ..:

Wojcik, Monica H. ; Callahan, Katharine P. ; Antoniou, Austin...
Genetics in Medicine.  25 (2023)  10 - p. 100926 , 2023
Link: https://doi.org/10.1016/..
 
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5

Towards personalized therapies for genetic disorders of sur..:

Peers de Nieuwburgh, Maureen ; Wambach, Jennifer A. ; Griese, Matthias.
Seminars in Fetal and Neonatal Medicine.  28 (2023)  6 - p. 101500 , 2023
Link: https://doi.org/10.1016/..
 
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6

P378: Inter-center variation in the availability and provis..:

Chaudhari, Bimal ; Brunelli, Luca ; Callahan, Katharine...
Genetics in Medicine Open.  1 (2023)  1 - p. 100414 , 2023
Link: https://doi.org/10.1016/..
 
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7

Noninvasive management of infants with SFTPC pathogenic var..:

Liptzin, Deborah R. ; McGraw, Matthew D. ; Stidham, Timothy..
Pediatric Pulmonology.  59 (2023)  2 - p. 488-491 , 2023
Link: https://doi.org/10.1002/..
 
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8

The US national registry for childhood interstitial and dif..:

Nevel, Rebekah J. ; Deutsch, Gail H. ; Craven, Daniel...
Pediatric Pulmonology.  , 2023
Link: https://doi.org/10.1002/..
 
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9

Lethal neonatal respiratory failure due to biallelic varian..:

Viehl, Luke ; Wegner, Daniel J ; Hmiel, Stanley P...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744956/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

P378: Inter-center variation in the availability and provis..:

Bimal Chaudhari ; Luca Brunelli ; Katharine Callahan...
http://www.sciencedirect.com/science/article/pii/S2949774423004144.  , 2023
Link: https://doi.org/10.1016/..
 
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11

PSMC3 proteasome subunit variants are associated with neuro..:

Ebstein, Frédéric ; Küry, Sébastien ; Most, Victoria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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12

ATP binding cassette member A3 (ABCA3): coming of age:

Casey, Alicia ; Nogee, Lawrence ; Wambach, Jennifer
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196939/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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13

A dominant negative variant ofRAB5Bdisrupts maturation of s..:

Huang, Huiyan ; Pan, Jiehong ; Spielberg, David R....
Proceedings of the National Academy of Sciences.  119 (2022)  6 - p. , 2022
Link: https://doi.org/10.1073/..
 
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14

Lethal neonatal respiratory failure due to biallelic varian..:

Viehl, Luke ; Wegner, Daniel J. ; Hmiel, Stanley P....
Pediatric Nephrology.  , 2022
Link: https://doi.org/10.1007/..
 
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15

Gene Therapy Potential for Genetic Disorders of Surfactant ..:

Cooney, Ashley L. ; Wambach, Jennifer A. ; Sinn, Patrick L..
Frontiers in Genome Editing.  3 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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