OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Medical Genetics Part A is 18. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	251
	49
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	41
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363–1367. Doi:10.1002/ajmg.a.35341	36
Co‐occurring anomalies in congenital oral clefts	35
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	31
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma	29
Caregiver Interviews Regarding Health in Down Syndrome	28
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	27
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family	24
ECHS1 deficiency and its biochemical and clinical phenotype	21
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	21
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	20
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	20
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	20
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	19
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	19
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	18
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	18
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	18
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	18
In Memoriam: Vazken M. Der Kaloustian	18