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Sarah H. Elsea | doi.page

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Sarah H. Elsea

Baylor College of Medicine(US)

Publications by Year

Research Areas

Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Metabolomics and Mass Spectrometry Studies, Genomics and Rare Diseases

Most-Cited Works

→ Mutations in RAI1 associated with Smith–Magenis syndrome(2003)357 cited
→ Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems(2010)301 cited
→ Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder(2011)246 cited
→ Smith–Magenis syndrome(2008)234 cited
→ Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism(2015)217 cited
→ Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism(2020)182 cited

→ Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases(2007)

169 cited

→ Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum(2006)154 cited

→ Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia(2016)130 cited

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.(1996)