J. Lawrence Merritt

Boston Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

32h-index3.0kcitations127works2.92yr avg
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Research Topics

Metabolism and Genetic Disorders(38), Genomics and Rare Diseases(23), Lysosomal Storage Disorders Research(19), Genetics and Neurodevelopmental Disorders(12), Diet and metabolism studies(12)

Publications99 total

Transitioning From Race-Specific to Race-Neutral Reference Equations for Pulmonary Function Test Interpretation at a Large Safety Net Hospital System
CHEST Journal·2025
Characterization of patients with mucopolysaccharidosis type VII (MPS VII) in the disease monitoring program (DMP)
Molecular Genetics and Metabolism·2025
Mucopolysaccharidosis type VII (MPS VII): A novel, online GUSB gene variant database
Molecular Genetics and Metabolism·2025
P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*
Genetics in Medicine Open·2025· 3 citedOpen Access
P224: Clinical outcomes for patients enrolled in the MPS VII disease monitoring program (DMP)
Genetics in Medicine Open·2025Open Access
P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes
Genetics in Medicine Open·2025Open Access
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
The American Journal of Human Genetics·2024Open Access
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
Orphanet Journal of Rare Diseases·2024· 3 citedOpen Access
Long-term safety and efficacy of DTX301 in adults with late-onset ornithine transcarbamylase (OTC) deficiency: A Phase 1/2 trial
Molecular Genetics and Metabolism·2024· 1 cited
Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency
Molecular Genetics and Metabolism·2024Open Access
Early clinical response and continued safety with vestronidase ALFA for the treatment of mucopolysaccharidosis VII (MPS VII)
Molecular Genetics and Metabolism·2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
The American Journal of Human Genetics·2024· 4 citedOpen Access
Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia
Journal of the Pediatric Orthopaedic Society of North America·2024· 4 citedOpen Access
Performance measures and patient/caregiver-reported assessments collected in a longitudinal, multi-center disease monitoring program (DMP) of patients with mucopolysaccharidosis type VII (MPS VII)
Molecular Genetics and Metabolism·2024Open Access
Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multi-center disease monitoring program (DMP)
Molecular Genetics and Metabolism·2024
P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)
Genetics in Medicine Open·2024Open Access
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing
Genetics in Medicine Open·2024· 4 citedOpen Access
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
Molecular Genetics and Metabolism·2023· 5 citedOpen Access
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders
Pediatric Research·2023· 6 cited
Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
Avery's Diseases of the Newborn·2023
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Frequent Co-authors

Susan A. Berry(13), George A. Díaz(12), Cary O. Harding(11), Renata C. Gallagher(9), Andreas Schulze(9), Derek A. Wong(8), Uta Lichter‐Konecki(7), Matthias R. Baumgartner(6), Annette Feigenbaum(6), Shawn E. McCandless(6), Sandesh C.S. Nagamani(6), Jennifer Seminara(5), Tamar Stricker(5), Marc Yudkoff(5), William J. Rhead(5), Jenny Thies(5), Jerry Vockley(5), Gregory M. Enns(5), Andrea Gropman(5), Georg F. Hoffmann(5)