Molecular Syndromology

Papers
(The H4-Index of Molecular Syndromology is 8. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
Prevalence and Phenotypic Impact of Robertsonian Translocations24
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review23
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review23
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe Neurodegeneration11
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey10
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <b><i>FBN1</i></b> Gene, in Health and Disease10
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report10
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations8
Expanding the Phenotype of <b><i>TUBB2A</i></b>-Related Tubulinopathy: Three Cases of a Novel, Heterozygous <b><i>TUBB2A</i></b> Pathogenic Variant p.Gl8
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