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

Article	Citations
Bone health in RASopathies	89
Correction to “The Rise of the Genetic Counseling Profession in China”	86
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	52
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	40
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	38
Endocrinological manifestations in RASopathies	32
Down syndrome across the lifespan	27
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	26
Evolution of Health Care in Turner Syndrome	25
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	23
Table of Contents, Volume 196, Number 4, December 2024	22
Central nervous system involvement in individuals withRASopathies	20
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	19
	19
Research Review of Myhre Syndrome	17
My Journey With Arthrogryposis and Some of the People Who Made a Difference	16
Publication schedule for 2023	16
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype–Phenotype Correlation	16
Co‐occurring conditions in Down syndrome: Findings from a clinical database	15
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	15
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education	14
	13
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation	12
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	12
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	12

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
Adult experiences in Beckwith–Wiedemann syndrome	10
Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosai	10
Normal joint range of motion in children with Down syndrome	9
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	9
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	9
A plot TWIST	9
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	9
Table of Contents, Volume 199, Number 1, March 2025	9
Cover Image, Volume 196, Number 1, March 2024	8
Cover Image, Volume 190, Number 3, September 2022	7
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	7
Table of Contents, Volume 193, Number 4, December 2023	7
In Utero Therapies, the Next Frontier	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	7
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Data sharing to advance gene‐targeted therapies in rare diseases	7
Cover Image, Volume 193, Number 1, March 2023	6
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Table of Contents, Volume 193, Number 1, March 2023	5
New prospectives on treatment opportunities in RASopathies	5
Circles	5
Treatment of PDGFRB ‐Related Penttinen Syndrome With Imatinib in a Young Child	5
Genesis and genetics of a miracle	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5