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Kaitlyn Bloom · SciRah

Researcher profile · Semantic Scholar

Kaitlyn Bloom

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Kaitlyn Bloom — researcher profile on SciRah

h-index: 7
Works: 18
Citations: 272

Most-cited papers

Clinical and biochemical characterization of four patients with mutations in ECHS1
S. Ferdinandusse, Marisa W. Friederich, A. Burlina, J. Ruiter +13 more
2015Orphanet Journal of Rare Diseases85 citations Open access
Semantic Scholar
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
W. E. Smith, Susan A Berry, Kaitlyn Bloom, Christine Brown +8 more
2024Genetics in Medicine58 citations
Semantic Scholar
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
R. Ganetzky, Kaitlyn Bloom, R. Ahrens-Nicklas, A. Edmondson +3 more
2016JIMD Reports36 citations Open access
Semantic Scholar
Metabolic features of treatment-refractory major depressive disorder with suicidal ideation
L. Pan, J. Naviaux, Lin Wang, Ke-Feng Li +9 more
2023Translational Psychiatry35 citations
Semantic Scholar
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
Kaitlyn Bloom, A. Mohsen, Anuradha Karunanidhi, D. El Demellawy +13 more
2017Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
O. D'Annibale, Erik A. Koppes, M. Sethuraman, Kaitlyn Bloom +2 more
2022Journal of Inherited Metabolic Disease14 citations Open access
Semantic Scholar
A Quantitative Method for the Measurement of Dried Blood Spot Amino Acids Using Ultra-Performance Liquid Chromatography.
Kaitlyn Bloom, Gail Ditewig Meyers, M. Bennett
2016The Journal of Applied Laboratory Medicine14 citations Open access
Semantic Scholar
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
W. E. Smith, Susan A Berry, Kaitlyn Bloom, Christine Brown +8 more
2026Genetics in Medicine2 citations
Semantic Scholar
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice
Kaitlyn Bloom, Anuradha Karunanidhi, K. Tobita, C. Hoppel +5 more
2020PLoS ONE2 citations Open access
Semantic Scholar
Validated GC-MS methods to detect ethylene, diethylene, and triethylene glycol in serum, plasma, and urine samples.
Nicolas Abrigo, S. Selaya, Adil Mohammad, D. Shakleya +11 more
2025Bioanalysis1 citations
Semantic Scholar
P056: Diagnosis of multiple Acyl-CoA dehydrogenase deficiency (MADD) with absent EFTB expression and negative genome sequencing
Yutaka Furuta, Kaitlyn Bloom, J. Vockley, Angela R. Grochowsky +12 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
In situ cryo-electron microscopy tomography reveals adipyl-D-ala-D-his effectively ameliorates gross mitochondrial structural abnormalities and alters mitochondrial quality control biomarkers in propionic acidemia patient cells
Tabitha Banks-Tibbs, Kaitlyn Bloom, Anuradha Karunanidhi, Jiying Ning +4 more
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Structure-guided in situ analysis of disease-causing mitochondrial complex I mutations directly in patient cells
Jiying Ning, Tabitha Banks-Tibbs, Kaitlyn Bloom, Eva Martin-Solana +5 more
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
O03: Mitochondrial function in fibroblasts from a patient with congenital NAD deficiency due to biallelic NADSYN1 variants
Bianca Seminotti, Kaitlyn Bloom, Mora Ghattes, K. Sampson +4 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn Bloom, J. Vockley, Angela R. Grochowsky +14 more
2026American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
Novel therapies improve mitochondrial bioenergetics and alleviate potential ROS damage in fibroblasts from patients with POLG-related disorders
Kaitlyn Bloom, Bianca Seminotti, Eduardo Vieira, A. Mohsen +1 more
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Biochemical diagnosis of fumarate hydratase (FH) deficiency
Monica Madya, Alan Cahill, Kaitlyn Bloom, A. Goldstein +4 more
2024Molecular Genetics and Metabolism0 citations
Semantic Scholar
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
M. Sethuraman, Erik A. Koppes, Kaitlyn Scola, Kaitlyn Bloom +2 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar

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