OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 5. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	62
Bone health in RASopathies	51
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance	41
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	36
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	35
Clinical trials for genetic diseases in Latin America	29
Endocrinological manifestations in RASopathies	28
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	28
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	28
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	26
Northwest Indigenous Art and the Inspiring Spirits	26
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	23
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	23
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	23
Cover Image, Volume 187, Number 4, December 2021	22
Evolution of Health Care in Turner Syndrome	20
Central nervous system involvement in individuals withRASopathies	19
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	19
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	19
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	18
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	18
Down syndrome across the lifespan	17
Table of Contents, Volume 196, Number 4, December 2024	16
	16
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	15

My Journey With Arthrogryposis and Some of the People Who Made a Difference	14
Advances in assessment of hypermobility‐related disorders	14
Publication schedule for 2023	13
Co‐occurring conditions in Down syndrome: Findings from a clinical database	13
Mythological figures in art and genetics: Current perspectives on cyclopia and chimerism	13
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	13
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	12
	12
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	11
The stories behind the art—Malformations and Hindu mythology	11
Genetic testing and glomerular hematuria—A nephrologist's perspective	11
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	10
Caregivers' concerns and supports needed to care for adults with Down syndrome	10
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	10
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	10
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	10
Cover Image, Volume 190, Number 1, March 2022	9
Adult experiences in Beckwith–Wiedemann syndrome	9
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	9
Reflections on Velázquez's “Don Baltasar Carlos with a Dwarf”	9
Normal joint range of motion in children with Down syndrome	8
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	8
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	8
In Utero Therapies, the Next Frontier	7
A plot TWIST	7
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
The portrayal of people with dwarfism in Chinese art	7
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	7
Cover Image, Volume 193, Number 1, March 2023	7
Cover Image, Volume 196, Number 1, March 2024	7
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	6
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	6
Cover Image, Volume 190, Number 3, September 2022	6
Data sharing to advance gene‐targeted therapies in rare diseases	6
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	6
Table of Contents, Volume 190, Number 2, June 2022	6
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	6
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	6
Table of Contents, Volume 193, Number 4, December 2023	6
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Publication schedule for 2021	5
Table of Contents, Volume 193, Number 1, March 2023	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5
Genesis and genetics of a miracle	5
Circles	5
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth	5