Concepedia

Kellie A. Lugenbeel

KA

6

Publications

462

Citations

6

H-Index

1994

Active since

Affiliations

Baylor College of Medicine(Current)

Kellie A. Lugenbeel is an author at Baylor College of Medicine specializing in medicine, developmental delay, and molecular genetics.

Top concepts

MedicineGeneticsMolecular GeneticsDevelopmental DelayFragile X SpectrumFragile X PremutationDevelopmental BiologyAutismGenomicsEducation

Publications per year

1994–1996

6

Publications

6

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Kellie A. Lugenbeel, Andrea Peier, Nancy Carson et al. · Nature Genetics · 1995 · 159 citations

Fragile X Syndrome, Genome Instability, Developmental Biology +12

Learning-disabled Males With a Fragile X CGG Expansion in the Upper Premutation Size Range

Randi J. Hagerman, Louise W. Staley, Rebecca O'Conner et al. · PEDIATRICS · 1996 · 124 citations

Genetics, Disability, Molecular Biology +20

Evolution of the cryptic FMR1 CGG repeat

Evan E. Eichler, Catherine B. Kunst, Kellie A. Lugenbeel et al. · Nature Genetics · 1995 · 57 citations

Next-generation Sequencing, Genetics, Genome Analysis +5

A <i>de novo</i> deletion in FMR1 in a patient with developmental delay

Yanghong Gu, Kellie A. Lugenbeel, Joseph G. Vockley et al. · Human Molecular Genetics · 1994 · 50 citations

Developmental Biology, Genetic Disorder, Genetics +5

Fragile X Syndrome in a Normal IQ Male with Learning and Emotional Problems

Scott A. Merenstein, Vivian Shyu, William E. Sobesky et al. · Journal of the American Academy of Child & Adolescent Psychiatry · 1994 · 43 citations

Intellectual Impairment, Fragile X Syndrome, Psychiatry +10

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