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Monica J. Basehore

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
2010 · Elizabeth A. Worthey, Alan N. Mayer, et al. · Genetics in Medicine · 712
A comprehensive evaluation of IL4 variants in ethnically diverse populations: association of total serum IgE levels and asthma in white subjects
2004 · Monica J. Basehore, Timothy D. Howard, et al. · Journal of Allergy and Clinical Immunology · 131
Promoter Polymorphisms in the Nitric Oxide Synthase 3 Gene Are Associated With Ischemic Stroke Susceptibility in Young Black Women
2005 · Timothy D. Howard, Wayne H. Giles, et al. · Stroke · 85
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
2006 · V Shashi, MS Keshavan, et al. · Clinical Genetics · 79
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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
2016 · Michael J Friez, Susan Sklower Brooks, et al. · BMJ Open · 53
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Molecular Analysis of Fragile X Syndrome
2009 · Monica J. Basehore, Michael J. Friez · Current Protocols in Human Genetics · 48
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
2013 · Michelle T. Lieu, Bobby G. Ng, et al. · Molecular Genetics and Metabolism · 28
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome
2014 · Amanda S. Lindy, Caleb P. Bupp, et al. · American Journal of Medical Genetics Part A · 27
Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)
2010 · Kristen J. Champion, Monica J. Basehore, et al. · Molecular Genetics and Metabolism · 20
Alpha‐thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation – c. 109C >T (p. R37X )
2014 · M.J. Basehore, R. Michaelson‐Cohen, et al. · Clinical Genetics · 16
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
2013 · Philip F. Giampietro, Mei W. Baker, et al. · American Journal of Medical Genetics Part A · 13
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Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain
2013 · Kitiwan Rojnueangnit, Julie R. Jones, et al. · American Journal of Medical Genetics Part A · 9
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
2016 · Amanda S. Lindy, Monica J. Basehore, et al. · American Journal of Medical Genetics Part A · 8
Promoter Polymorphisms in the Nitric Oxide Synthase 3 Gene Are Associated With Ischemic Stroke Susceptibility in Young Black Women
2020 · Meyers, D. A., Wozniak, M. A., et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill) · 7
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New observation of sialuria prompts detection of liver tumor in previously reported patient
2016 · Neena L. Champaigne, Jules G. Leroy, et al. · Molecular Genetics and Metabolism · 7
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Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions in FMR1
2012 · Monica J. Basehore, Natalia M. Marlowe, et al. · Genetic Testing and Molecular Biomarkers · 7
Molecular Analysis of Fragile X Syndrome
2014 · Monica J. Basehore, Michael J. Friez · Current Protocols in Human Genetics · 5
A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis
2013 · Doris G. Leung, Harold A. Taylor, et al. · Arthritis Care & Research · 5
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls
2008 · Hsiao‐Yuan Tang, Monica J. Basehore, et al. · American Journal of Medical Genetics Part A · 3
Development of a next generation sequencing panel for lysosomal storage disorders
2013 · Tim Wood, Monica Basehore, et al. · Molecular Genetics and Metabolism · 2
Developmental Delay: Gene Testing
2016 · Christin D. Collins, Monica J. Basehore, et al. · Springer eBooks
NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)
2013 · Michael J. Friez, Monica J. Basehore · Springer eBooks
Works count: 23
Citation count: 1,265
H-index: 11
I10-index: 11
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