Kimberly Chapman

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Publications

Homocystinuria symptomatology collected through an international patient-report data program as a source for natural history data. Mol Genet Metab Rep. 2026 Dec; 49:101355.. View in PubMed
A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care. Mol Genet Metab. 2026 Sep-Oct; 149(1-2):110254.. View in PubMed
Pediatric liver transplantation for metabolic diseases: a single-center experience. World J Pediatr. 2026 May; 22(5):574-585.. View in PubMed
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations. J Child Neurol. 2026 07; 41(6):878-882.. View in PubMed
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications. Mol Genet Metab. 2025 Dec; 146(4):109289.. View in PubMed
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. Am J Hum Genet. 2025 10 02; 112(10):2381-2401.. View in PubMed
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. medRxiv. 2025 Aug 22.. View in PubMed
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. Mol Genet Metab Rep. 2025 Jun; 43:101202.. View in PubMed
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 08; 632(8026):832-840.. View in PubMed
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09.. View in PubMed

Kimberly Chapman

Publications

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