Clinical Dysmorphology

Papers
(The H4-Index of Clinical Dysmorphology is 4. 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 2021-04-01 to 2025-04-01.)
ArticleCitations
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene7
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature5
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature5
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome4
TUBB3 R262H in a neonate with ptosis and vocal cord palsy4
Familiar case of a small TBC1D24 and ATP6V0C-containing microdeletion associated with developmental delay, microcephaly, and seizures4
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family4
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