Publications
26
Citations
73
Est. group size
~2
Recurring co-author estimate
Active years
9
Publishing since 2018
Molly McPheron studies inherited metabolic and genetic disorders in medicine, with a strong focus on lysosomal storage diseases such as Pompe disease. A major theme is newborn screening: identifying affected infants early and improving how quickly they can begin treatment. The work also covers related conditions like phenylketonuria (PKU) and rare genetic syndromes.
Publication activity has been growing over the past decade, with a notable increase in recent years (averaging about 4.4 papers per year over the last five years).
Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026
- Improved outcomes in infantile-onset Pompe disease through early enzyme replacement therapy enabled by newborn screening: Insights from a multisite US cohort
Molecular Genetics and Metabolism · 2026
- Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease
Genetics in Medicine · 2025
- Treatment of <scp> <i>PDGFRB</i> </scp> ‐Related Penttinen Syndrome With Imatinib in a Young Child
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2025
- Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease
Genetics in Medicine Open · 2025
- Challenges in management of late-onset Pompe disease (LOPD) identified through Indiana newborn screening
Molecular Genetics and Metabolism · 2024
- Newborn screening for lysosomal disorders: Three years of experience in Indiana
Molecular Genetics and Metabolism · 2024
- P031: Late onset Pompe disease diagnoses missed by standard newborn screening procedure: The Indiana experience
Genetics in Medicine Open · 2024
- Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
Journal of Community Genetics · 2023
- HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
The American Journal of Human Genetics · 2023
- eP026: Newborn screening for Pompe disease: The Indiana experience
Genetics in Medicine · 2022
- Palynziq clinic: One year and 43 patients later
Molecular Genetics and Metabolism · 2021
- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency
JIMD Reports · 2018
- Molecular Genetics and Metabolism×6
- Genetics in Medicine Open×4
- Genetics in Medicine×3
- JIMD Reports×2
- The American Journal of Human Genetics×1
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 11, 2026.
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