Meredith Schultz

Publications by Year

Research Areas

Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery, Family and Disability Support Research, Genetics and Neurodevelopmental Disorders

Most-Cited Works

• → Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial(2021)456 cited
• → High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)189 cited
• → A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions(2020)28 cited
• → Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia(2021)24 cited
• → Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update (1828)(2020)19 cited
• → Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384)(2020)12 cited
• → Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?(2020)10 cited
• → 066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update(2019)4 cited
• → 250 AVXS-101 phase 3 study in spinal muscular atrophy type 1(2019)4 cited
• → 014 AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update(2019)3 cited