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Caggana, Michele
203  results:
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1

Regulatory Elements in SEM1–DLX5–DLX6 (7q21.3) Locus Contri..:

Nicoletti, Paola ; Zafer, Samreen ; Matok, Lital...
Genetics in Medicine Open.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Defining the Minimal Long-Term Follow-Up Data Elements for ..:

Kellar-Guenther, Yvonne ; Barringer, Lauren ; Raboin, Katherine...
International Journal of Neonatal Screening.  10 (2024)  2 - p. 37 , 2024
Link: https://doi.org/10.3390/..
 
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3

P506: Long-term results and challenges of newborn screening..:

Xiao, Jing ; Bradley, Sarah ; Johnson, Christopher...
Genetics in Medicine Open.  2 (2024)  - p. 101405 , 2024
Link: https://doi.org/10.1016/..
 
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4

Genetic counseling access and service delivery in New York ..:

Kay, Denise M. ; Sadeghi, Hossein ; Kier, Catherine...
Pediatric Pulmonology.  59 (2024)  7 - p. 1952-1961 , 2024
Link: https://doi.org/10.1002/..
 
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5

ScreenPlus: A comprehensive, multi-disorder newborn screeni..:

Kelly, Nicole R. ; Orsini, Joseph J. ; Goldenberg, Aaron J....
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101037 , 2024
Link: https://doi.org/10.1016/..
 
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6

Variability in evaluation and follow‐up of newborns with CR..:

Kier, Catherine ; Kay, Denise M. ; Langfelder‐Schwind, Elinor...
Pediatric Pulmonology.  59 (2024)  5 - p. 1511-1513 , 2024
Link: https://doi.org/10.1002/..
 
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7

P594: Reducing disparities in cystic fibrosis newborn scree..:

Kay, Denise ; Kim, Christina ; Sicko, Robert...
Genetics in Medicine Open.  2 (2024)  - p. 101500 , 2024
Link: https://doi.org/10.1016/..
 
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8

P395: Assessing the collaborative relationships among diver..:

Kutsa, Oksana ; Terry, Alissa ; Bodurtha, Joann...
Genetics in Medicine Open.  1 (2023)  1 - p. 100431 , 2023
Link: https://doi.org/10.1016/..
 
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9

Variant Classification for Pompe disease; ACMG/AMP specific..:

Goldstein, Jennifer L. ; McGlaughon, Jennifer ; Kanavy, Dona...
Molecular Genetics and Metabolism.  140 (2023)  1-2 - p. 107715 , 2023
Link: https://doi.org/10.1016/..
 
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10

When is the best time to screen and evaluate for treatable ..:

Parisi, Melissa A. ; Caggana, Michele ; Cohen, Jennifer L....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 44-55 , 2023
Link: https://doi.org/10.1002/..
 
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11

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Q..:

Dantonio, Paul ; Tavakoli, Norma P. ; Migliore, Brooke...
International Journal of Neonatal Screening.  9 (2023)  1 - p. 13 , 2023
Link: https://doi.org/10.3390/..
 
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12

Newborn screening for Duchenne muscular dystrophy: A two‐ye..:

Tavakoli, Norma P. ; Gruber, Dorota ; Armstrong, Niki...
Annals of Clinical and Translational Neurology.  10 (2023)  8 - p. 1383-1396 , 2023
Link: https://doi.org/10.1002/..
 
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13

Factors influencing creatine kinase-MM concentrations in ne..:

Maloney, Breanne ; Park, Sunju ; Sowizral, Mycroft...
Clinical Biochemistry.  118 (2023)  - p. 110614 , 2023
Link: https://doi.org/10.1016/..
 
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14

Are we prepared to deliver gene‐targeted therapies for rare..:

Yu, Timothy W. ; Kingsmore, Stephen F. ; Green, Robert C....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  1 - p. 7-12 , 2023
Link: https://doi.org/10.1002/..
 
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15

Screenplus: A model for collective funding of pilot newborn..:

Kelly, Nicole R. ; Boychuk, Natalie ; Ouyang, Wei...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S65-S66 , 2022
Link: https://doi.org/10.1016/..
 
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