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One or more keywords matched the following items that are connected to Beggs, Alan
Item TypeName
Academic Article Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.
Academic Article Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Academic Article Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Academic Article Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Academic Article Large duplication in MTM1 associated with myotubular myopathy.
Academic Article Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
Academic Article Variations in gene expression among different types of human skeletal muscle.
Academic Article Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.
Academic Article Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Concept Infant, Newborn
Concept Neonatal Screening
Academic Article Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Academic Article Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Academic Article SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Grant Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
Grant Genetic screening and therapies for nemaline myopathies
Academic Article A curated gene list for reporting results of newborn genomic sequencing.
Academic Article Newborn Sequencing in Genomic Medicine and Public Health.
Academic Article Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Academic Article A natural history study of X-linked myotubular myopathy.
Academic Article A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Academic Article Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Academic Article Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Academic Article The BabySeq project: implementing genomic sequencing in newborns.
Academic Article Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Academic Article Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.
Academic Article Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
Academic Article Challenging the Current Recommendations for Carrier Testing in Children.
Academic Article Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Academic Article Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Academic Article Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Academic Article Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Academic Article Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
Academic Article Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Search Criteria
  • Newborn
  • screening
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.