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Author

Kahlen R. Darr

Observed name: Kahlen Darr
Institution: Mayo Clinic
ORCID: 0000-0002-7627-9875
Observed ORCID: 0000-0002-7627-9875
OpenAlex ID: A5060421014
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
2025 · Isabelle B. Cooperstein, Shruti Marwaha, et al. · Genome Medicine · 17
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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
2025 · Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, et al. · Nature Communications · 8
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Effects of genetic counselor disabilities on their professional experiences: A qualitative investigation of North American counselors' perceptions
2022 · Kahlen Darr, Patricia McCarthy Veach, et al. · Journal of Genetic Counseling · 6
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Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
2026 · Laura A. Keehan, Hitomi Ono-Minagi, et al. · Genetics in Medicine · 4
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
2025 · Lane Fitzsimmons, Undiagnosed Diseases Network, et al. · BioData Mining · 1
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Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network
2026 · Somin Hwang, Rachel M. Brown, et al. · Genetics in Medicine
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Clinical, Genetic, and Endocrine Features of Bardet‐Biedl Syndrome in a Pediatric and Adult Cohort
2026 · Doha Hassan, Mostafa Salama, et al. · American Journal of Medical Genetics Part A
“It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network
2026 · Kevin T. Mintz, Elisa N. Altamirano, et al. · Genetics in Medicine
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Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling
2026 · Nathalie M. Aceves-Ewing, Denise G. Lanza, et al. · Genetics in Medicine
P095: Integrative tumor, germline and post-mortem analysis identifies a germline SMARCE1 driver in familial meningiomatosis
2026 · Kahlen Darr, Asma Ali, et al. · Genetics in Medicine Open
Serous maculopathy in congenital cavitary optic disc anomaly: A case series
2025 · Jenna Krivit, Gregor S. Reiter, et al. · American Journal of Ophthalmology Case Reports
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report
2025 · Matheus Vernet Machado Bressan Wilke, Deepak Panwar, et al. · American Journal of Medical Genetics Part A
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A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1
2025 · Joseph Farris, Camila Dergam-Larson, et al. · BMC Medical Genomics
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HGSNAT - A ‘chip-off-the-old-block’, or a double entendre with an unusual clinical course?
2025 · Zinandre Stander, Kahlen Darr, et al. · Molecular Genetics and Metabolism
Scarring hidradenitis suppurativa with phrynoderma-like eruption, alopecia, and elevated interleukin 18
2024 · Frank Z. Jing, Mika Yamanaka-Takaichi, et al. · JAAD Case Reports
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14. Deletions resulting in Brachydactyly Mental Retardation Syndrome (BDMR): Multiple contributing regions in distal 2q37
2022 · Aiko Otsubo, Kahlen Darr, et al. · Cancer Genetics
Genotype-Phenotype Correlation of Distal 2q37 Deletions
2022 · Aiko Iwata-Otsubo, Kahlen R. Darr, et al. · Cytogenetic and Genome Research
Works count: 17
Citation count: 36
H-index: 4
I10-index: 1
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