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 2022-08-01 to 2026-08-01.)

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	357
	46
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	42
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	38
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	36
In Memoriam: Vazken M. Der Kaloustian	34
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	31
Autosomal dominant inheritance with sex‐limited infertility	28
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	28
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	25
An exploratory study of plasma ceramides in comorbidities in Down syndrome	25
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	23
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature	22
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	22
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes	22
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	22
KDM2B ‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and	21
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review	20
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	19
Caregiver Interviews Regarding Health in Down Syndrome	19
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies	19
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	19