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 2021-06-01 to 2025-06-01.)

Article	Citations
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	67
Bone health in RASopathies	52
Clinical trials for genetic diseases in Latin America	45
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	38
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	35
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	32
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	29
Endocrinological manifestations in RASopathies	29
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	28
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	27
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	26
Cover Image, Volume 187, Number 4, December 2021	26
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	24
Down syndrome across the lifespan	24
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	24
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	22
Table of Contents, Volume 196, Number 4, December 2024	21
Central nervous system involvement in individuals withRASopathies	20
Evolution of Health Care in Turner Syndrome	20
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	19
	18
My Journey With Arthrogryposis and Some of the People Who Made a Difference	17
Publication schedule for 2023	16
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	16
Advances in assessment of hypermobility‐related disorders	16

Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	15
	14
Caregivers' concerns and supports needed to care for adults with Down syndrome	14
Co‐occurring conditions in Down syndrome: Findings from a clinical database	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
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	13
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	12
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	12
Genetic testing and glomerular hematuria—A nephrologist's perspective	12
Adult experiences in Beckwith–Wiedemann syndrome	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
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	11
Cover Image, Volume 190, Number 1, March 2022	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	11
Normal joint range of motion in children with Down syndrome	11
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	10
A plot TWIST	10
Cover Image, Volume 196, Number 1, March 2024	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	10
In Utero Therapies, the Next Frontier	10
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	9
Table of Contents, Volume 199, Number 1, March 2025	9
Cover Image, Volume 193, Number 1, March 2023	8
Cover Image, Volume 190, Number 3, September 2022	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	8
Table of Contents, Volume 190, Number 2, June 2022	8
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	8
Table of Contents, Volume 193, Number 4, December 2023	7
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	7
Publication schedule for 2021	7
Circles	7
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
Table of Contents, Volume 193, Number 1, March 2023	7
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	7
Data sharing to advance gene‐targeted therapies in rare diseases	7
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	7
New prospectives on treatment opportunities in RASopathies	7