Annals of Human Genetics

Papers
(The H4-Index of Annals of Human Genetics is 9. 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 2021-08-01 to 2025-08-01.)
ArticleCitations
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome21
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children18
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering14
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations12
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China12
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population11
11
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss10
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology10
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia9
Genetics of ataxia telangiectasia in a highly consanguineous population9
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