Congenital Anomalies

Papers
(The H4-Index of Congenital Anomalies is 7. 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 2022-06-01 to 2026-06-01.)
ArticleCitations
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis23
Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome10
Announcement9
Focused Clinical Observation of Functional Outcomes in Children With OEIS Complex9
Morphological relationship between the cranial base and facial anomalies in humans: Challenges and future perspectives9
Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies8
Issue Information8
Risk of major birth defects after first‐trimester exposure to carbocisteine and ambroxol: A multicenter prospective cohort study using counseling data for drug safety during pregnancy7
Issue Information7
Urinary Metabolic Screening Misled the Molecular Diagnosis of Xia–Gibbs Syndrome7
0.26466703414917