OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Medical Genetics Part A is 19. 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 2022-06-01 to 2026-06-01.)

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	332
	44
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	41
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	35
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	32
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	32
In Memoriam: Vazken M. Der Kaloustian	28
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	27
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21‐year‐old female with an intronic mutation in the elastin gene	26
Autosomal dominant inheritance with sex‐limited infertility	24
An exploratory study of plasma ceramides in comorbidities in Down syndrome	23
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	23
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	22
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	21
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay a	21
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially As	21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	21
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	20
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	20
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada	19
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	19
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum	19
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder	19