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Antonie D. Kline | doi.page

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Antonie D. Kline

Greater Baltimore Medical Center(US)Rambam Health Care Campus(IL)

Publications by Year

Research Areas

Genomics and Chromatin Dynamics, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Prenatal Screening and Diagnostics

Most-Cited Works

→ Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
→ Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement(2018)363 cited
→ de Lange syndrome: A clinical review of 310 individuals(1993)333 cited
→ Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
→ NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations(2004)314 cited
→ Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance(2007)279 cited

→ Natural history of aging in Cornelia de Lange syndrome(2007)

173 cited

→ De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay(2015)157 cited

→ Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited

Molecular analysis of the 18q- syndrome--and correlation with phenotype.(1993)