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 2021-10-01 to 2025-10-01.)

Article	Citations
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	81
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	61
Bone health in RASopathies	53
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	40
Endocrinological manifestations in RASopathies	38
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	37
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	32
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	30
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	30
Cover Image, Volume 187, Number 4, December 2021	29
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	28
Down syndrome across the lifespan	28
Research Review of Myhre Syndrome	28
Evolution of Health Care in Turner Syndrome	28
Table of Contents, Volume 196, Number 4, December 2024	25
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	23
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	21
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	21
Central nervous system involvement in individuals withRASopathies	21
	20
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	19
Co‐occurring conditions in Down syndrome: Findings from a clinical database	19
Publication schedule for 2023	19
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	18
Advances in assessment of hypermobility‐related disorders	18

My Journey With Arthrogryposis and Some of the People Who Made a Difference	17
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	16
	16
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	15
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	14
Cover Image, Volume 190, Number 1, March 2022	14
Genetic testing and glomerular hematuria—A nephrologist's perspective	14
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	14
Caregivers' concerns and supports needed to care for adults with Down syndrome	14
Adult experiences in Beckwith–Wiedemann syndrome	13
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	13
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	12
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	12
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	12
Family Lore, a Variant of Uncertain Significance, and CADASIL	12
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	11
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	11
A plot TWIST	11
In Utero Therapies, the Next Frontier	11
Normal joint range of motion in children with Down syndrome	11
Table of Contents, Volume 199, Number 1, March 2025	10
Cover Image, Volume 196, Number 1, March 2024	10
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	10
Cover Image, Volume 190, Number 3, September 2022	10
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	10
Table of Contents, Volume 190, Number 2, June 2022	10
Cover Image, Volume 193, Number 1, March 2023	9
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	8
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	8
Table of Contents, Volume 193, Number 4, December 2023	8
Data sharing to advance gene‐targeted therapies in rare diseases	8
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	8
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	8
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	8
New prospectives on treatment opportunities in RASopathies	7
Circles	7
Genesis and genetics of a miracle	7
Table of Contents, Volume 193, Number 1, March 2023	7
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	7
Publication schedule for 2021	7
Treatment of PDGFRB‐Related Penttinen Syndrome With Imatinib in a Young Child	7