OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 7. 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 2021-08-01 to 2025-08-01.)

Article	Citations
Bone health in RASopathies	73
Clinical trials for genetic diseases in Latin America	60
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	50
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	39
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	38
Endocrinological manifestations in RASopathies	35
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	34
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	29
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	29
Cover Image, Volume 187, Number 4, December 2021	28
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	28
Central nervous system involvement in individuals withRASopathies	28
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	25
Table of Contents, Volume 196, Number 4, December 2024	25
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	25
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	25
Down syndrome across the lifespan	21
Research Review of Myhre Syndrome	20
Evolution of Health Care in Turner Syndrome	20
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	20
Publication schedule for 2023	18
	18
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	18
	16
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	16

Co‐occurring conditions in Down syndrome: Findings from a clinical database	16
Advances in assessment of hypermobility‐related disorders	16
My Journey With Arthrogryposis and Some of the People Who Made a Difference	16
Caregivers' concerns and supports needed to care for adults with Down syndrome	14
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	14
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	14
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	14
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	13
Genetic testing and glomerular hematuria—A nephrologist's perspective	13
Cover Image, Volume 190, Number 1, March 2022	13
Adult experiences in Beckwith–Wiedemann syndrome	12
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	12
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	12
Normal joint range of motion in children with Down syndrome	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	11
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	11
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	11
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	10
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	10
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	10
A plot TWIST	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
In Utero Therapies, the Next Frontier	10
Table of Contents, Volume 199, Number 1, March 2025	9
Cover Image, Volume 196, Number 1, March 2024	9
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	9
Cover Image, Volume 190, Number 3, September 2022	8
Table of Contents, Volume 193, Number 4, December 2023	8
Cover Image, Volume 193, Number 1, March 2023	8
Data sharing to advance gene‐targeted therapies in rare diseases	8
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	8
Table of Contents, Volume 190, Number 2, June 2022	8
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	8
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	8
Publication schedule for 2021	7
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	7
New prospectives on treatment opportunities in RASopathies	7
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	7
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	7
Genesis and genetics of a miracle	7
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	7
Table of Contents, Volume 193, Number 1, March 2023	7
Circles	7