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Author

Alanna E. Koehler

Observed names: A. Koehler, Alanna Koehler, Koehler, Alanna
Observed institutions: National Institutes of Health, Clinic for Special Children, Howard Hughes Medical Institute, Franklin & Marshall College, University of California San Diego, Sanford Consortium for Regenerative Medicine, Office of the Director, NIH Common Fund
ORCID: 0000-0002-0148-7418
Observed ORCID: 0000-0002-0148-7418
OpenAlex ID: A5018318236
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
2017 · Julia Wang, Rami Al-Ouran, et al. · The American Journal of Human Genetics · 204
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
2017 · Rachel B. Ramoni, John J. Mulvihill, et al. · The American Journal of Human Genetics · 179
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CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
2015 · Kevin A. Strauss, Robert N. Jinks, et al. · The American Journal of Human Genetics · 167
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
2016 · Hsiao-Tuan Chao, Mariska Davids, et al. · The American Journal of Human Genetics · 115
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
2016 · Vandana Shashi, Vandana Shashi, et al. · The American Journal of Human Genetics · 86
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73
2015 · Robert N. Jinks, Erik G. Puffenberger, et al. · Brain · 69
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
2019 · Jennifer Friedman, Desiree E. Smith, et al. · Nature Communications · 50
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
2017 · Loren D.M. Pena, Yong-Hui Jiang, et al. · Genetics in Medicine · 50
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
2017 · Kelly Schoch, Linyan Meng, et al. · The American Journal of Human Genetics · 48
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Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion ofSLC12A2
2019 · Ellen F. Macnamara, Alanna E. Koehler, et al. · Human Mutation · 42
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Growth cone macropinocytosis of neurotrophin receptor and neuritogenesis are regulated by neuron navigator 1
2022 · Regina M. Powers, Ray Daza, et al. · Molecular Biology of the Cell · 9
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Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
2025 · Jordan Elliott Bontrager, Amy L. White, et al. · Neurology · 6
Multi-omics approach to map a clinically diverse large cohort with homozygous founder RAG1 p.C176F variant among Old Order Mennonites
2026 · Evan Potts, Marta Toth, et al. · medRxiv
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Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease
2026 · Karlla W. Brigatti, Ashlin Rodrigues, et al. · Cell Reports Medicine
Facilitating weight lose in adults with classic maple syrup urine disease using metformin
2026 · D.L. Robinson, A. Rodrigues, et al. · Molecular Genetics and Metabolism
Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease
2026 · Ashlin Rodrigues, Erin Sweigert, et al. · Molecular Genetics and Metabolism
Works count: 17
Citation count: 1,025
H-index: 10
I10-index: 10
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