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Kelly Q. Minks

Observed names: Kelly Minks, Minks, Kelly Q, Minks, Kelly Q.
OpenAlex ID: A5036058940
Treatment Responsiveness in KCNT1-Related Epilepsy
2019 · Mark P. Fitzgerald, Martina Fiannacca, et al. · Neurotherapeutics · 102
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
2021 · Sarah E. Sheppard, Ian M. Campbell, et al. · American Journal of Medical Genetics Part A · 72
Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)
2019 · Allison Gregory, Mitesh Lotia, et al. · Molecular Genetics & Genomic Medicine · 60
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Expanding the neurodevelopmental phenotype ofPURAsyndrome
2017 · Bo Hoon Lee, Margot R. F. Reijnders, et al. · American Journal of Medical Genetics Part A · 48
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 · Ilaria Mannucci, Nghi D. P. Dang, et al. · Genome Medicine · 35
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A Novel PDE8B Gene Variant Associated with Autosomal Dominant Striatal Degeneration
2024 · Natalia Chunga, Kelly Minks, et al. · Movement Disorders Clinical Practice · 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
2021 · Sarah Sheppard, Ian Campbell, et al. · Molecular Genetics and Metabolism · 1
Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 · Mannucci, Ilaria, Dang, Nghi D. P., et al. · UWA Profiles and Research Repository (UWA)
Works count: 19
Citation count: 318
H-index: 5
I10-index: 5
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