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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 03, 2024
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Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Mei Lietsch et al. Int J Neonatal Screen 2024 10(2)
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024
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Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.
Mary A Curry et al. Neurol Ther 2024
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Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024
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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Laurent Servais et al. J Neuromuscul Dis 2024
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Challenges and opportunities in spinal muscular atrophy therapeutics.
Crystal J J Yeo et al. Lancet Neurol 2024 23(2) 205-218
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Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142
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Development and assessment of educational materials for spinal muscular atrophy carrier screening in the Plain community.
Carly Eichten et al. J Genet Couns 2024
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Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Tamara Dangouloff et al. Neuromuscul Disord 2023 3461-67
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Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
Shoko Sonehara et al. Genes (Basel) 2023 14(12)
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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Victor D Armengol et al. Neurol Clin Pract 2023 14(1) e200224
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Gene therapy-based strategies for spinal muscular atrophy-an Asia-Pacific perspective.
Michelle A Farrar et al. Mol Cell Pediatr 2023 10(1) 17
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Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.
Georgi Iskrov et al. Int J Neonatal Screen 2023 9(4)
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Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
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Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.
Marty Chaplin et al. Pharmacoecon Open 2023
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Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
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Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable?
Martina Ricci et al. Ann Neurol 2023
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Pilot Study on Newborn Screening for Spinal Muscular Atrophy.
Helena Fonseca et al. Endocr Metab Immune Disord Drug Targets 2023
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Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
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Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
F Niri et al, IJNS, July 27, 2023
Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights.
Mary Curry et al. Neurol Ther 2023
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Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Julian Theuriet et al. Eur J Hum Genet 2023
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Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study.
Jana Willems et al. Orphanet J Rare Dis 2023 18(1) 136
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Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.
Diana Weidlich et al. Neurol Ther 2023
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Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience.
Itay Tokatly Latzer et al. Pediatr Neurol 2023 14460-68
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Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma).
Tolu Ogbonmide et al. Cureus 2023 15(3) e36197
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Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
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Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Tomokazu Kimizu et al. Brain & development 2023
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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Rafael Tesorero et al. PloS one 2023 18(3) e0283024
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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