Molecular Syndromology

Papers
(The H4-Index of Molecular Syndromology is 6. 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 2020-03-01 to 2024-03-01.)
ArticleCitations
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review16
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review16
Prevalence and Phenotypic Impact of Robertsonian Translocations16
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report11
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe Neurodegeneration8
Variants in the <b><i>PNPLA1</i></b> Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance6
A Recurrent Variant in <b><i>POLR1B</i></b>, c.3007C&#x3e;T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 46
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society6
Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease6
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.Gl6
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