Murray H. Brilliant

Marshfield Clinic — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index6.4kcitations112works5.52yr avg
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Research Topics

melanin and skin pigmentation(29), Biochemical Analysis and Sensing Techniques(21), Genetics and Neurodevelopmental Disorders(16), Autism Spectrum Disorder Research(12), Genomics and Chromatin Dynamics(11)

Publications112 total

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism
Investigative Ophthalmology & Visual Science·2024· 6 citedOpen Access
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
BMC Research Notes·2024· 5 citedOpen Access
<i>FMR1</i> CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers
American Journal on Intellectual and Developmental Disabilities·2022· 8 citedOpen Access
The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women
SSM - Population Health·2022· 8 citedOpen Access
Advancing artificial intelligence-assisted pre-screening for fragile X syndrome
BMC Medical Informatics and Decision Making·2022· 17 citedOpen Access
Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems
JAMA Network Open·2021· 8 citedOpen Access
Assessing Foveal Structure in Individuals with TYR R402Q and S192Y Hypomorphic Alleles
Ophthalmology Science·2021· 9 citedOpen Access
Health profiles of adults with autism spectrum disorder: Differences between women and men
Autism Research·2021· 32 citedOpen Access
Mild Neurological Signs in <i>FMR1</i> Premutation Women in an Unselected Community‐Based Cohort
Movement Disorders·2021· 4 citedOpen Access
Novel EDGE encoding method enhances ability to identify genetic interactions
PLoS Genetics·2021· 7 citedOpen Access
Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample
Genetics in Medicine·2021· 24 citedOpen Access
Genetic and Environmental Influences on Self-Reported Cognitive Functioning: Associations of Diverse Measures of Stress across the FMR1 CGG Repeat Range
Research Square (Research Square)·2020Open Access
FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress
Frontiers in Pediatrics·2020· 10 citedOpen Access
Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses
UNC Libraries·2020Open Access
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium
Digital Commons@Becker (Washington University School of Medicine)·2020· 6 citedOpen Access
Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample
UNC Libraries·2020Open Access
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma
UNC Libraries·2020Open Access
Genetic and Environmental Influences on Self-Reported Cognitive Functioning: Associations of Diverse Measures of Stress across the FMR1 CGG Repeat Range
Research Square (Research Square)·2020· 1 citedOpen Access
Data-driven phenotype discovery of <i>FMR1</i> premutation carriers in a population-based sample
Science Advances·2019· 36 citedOpen Access
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Nature Genetics·2019· 9 citedOpen Access
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Frequent Co-authors

John M. Gardner(9), Yoshimichi Nakatsu(9), Donna Durham‐Pierre(8), Nobuko Hagiwara(7), Richard A. King(7), Jessica N. Cooke Bailey(5), Jae H. Kang(5), Donald L. Budenz(5), John H. Fingert(5), Douglas Gaasterland(5), Paul R. Lichter(5), Sayoko E. Moroi(5), Joel S. Schuman(5), William K. Scott(5), Kuldev Singh(5), Arthur J. Sit(5), Douglas Vollrath(5), Gadi Wollstein(5), Donald J. Zack(5), Margaret A. Pericak‐Vance(5)