OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Medical Genetics Part A is 20. 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 2021-05-01 to 2025-05-01.)

Article	Citations
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	192
Cover Image, Volume 191A, Number 8, August 2023	99
Table of Contents, Volume 185A, Number 10, October 2021	42
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	40
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures	35
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders	33
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	31
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report	31
Nonclassic fibrodysplasia ossificans progressiva: A child from Angola with an ACVR1^G328E variant	27
	27
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	27
Autosomal dominant inheritance with sex‐limited infertility	27
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	27
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy	26
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature	26
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	25
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	22
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	22
Current state of the art in treatment of Mendelian disease: Skeletal dysplasias	22
Table of Contents, Volume 185A, Number 11, November 2021	22
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?	20