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 2022-05-01 to 2026-05-01.)

Article	Citations
Cover Image, Volume 191A, Number 8, August 2023	314
	44
Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers	40
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome	34
Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome	31
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing	30
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals	28
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions	27
In Memoriam: Vazken M. Der Kaloustian	24
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression	24
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	23
An exploratory study of plasma ceramides in comorbidities in Down syndrome	22
Autosomal dominant inheritance with sex‐limited infertility	22
Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome	22
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially As	21
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?	21
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype	21
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study	20
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay a	19
Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022)	19
ECHS1 deficiency and its biochemical and clinical phenotype	19
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome	19