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 2022-01-01 to 2026-01-01.)

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	271
	38
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	37
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	33
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome	30
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry	27
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma	26
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	25
Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect	25
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	24
In Memoriam: Vazken M. Der Kaloustian	20
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	20
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	20
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	20
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	19
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	19
Mosaic RAI1 variant in a Smith–Magenis syndrome patient with total anomalous pulmonary venous return	19
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	18
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies	18
Caregiver Interviews Regarding Health in Down Syndrome	18
Autosomal dominant inheritance with sex‐limited infertility	18
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D	18