Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
KS Kucera, BL Boyea, B Migliore, SN Potter… - Genetics in …, 2024 - Elsevier
Purpose Current and emerging treatments for Duchenne muscular dystrophy (DMD) position
DMD as a candidate condition for newborn screening (NBS). In anticipation of the …
DMD as a candidate condition for newborn screening (NBS). In anticipation of the …
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
JL Goldstein, J McGlaughon, D Kanavy… - Molecular genetics and …, 2023 - Elsevier
Accurate determination of the clinical significance of genetic variants is critical to the
integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical …
integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical …
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
BRR Nallamilli, Y Pan… - Annals of Clinical …, 2023 - Wiley Online Library
Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular
dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and …
dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and …
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review
ID Rivera, LN Campos, DMI Alegre… - 2024 - researchsquare.com
Background Pompe Disease (PD) is a rare progressive autosomal recessive disorder
resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely …
resulting from deficient acid alpha-glucosidase (GAA) enzyme activity, necessitating timely …