OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 6. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Correction to “The Rise of the Genetic Counseling Profession in China”	86
Bone health in RASopathies	69
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	66
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	44
Endocrinological manifestations in RASopathies	43
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	32
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	32
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	31
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	30
Evolution of Health Care in Turner Syndrome	29
Down syndrome across the lifespan	29
Table of Contents, Volume 196, Number 4, December 2024	27
Central nervous system involvement in individuals withRASopathies	23
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	23
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	23
Research Review of Myhre Syndrome	22
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	20
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	20
Publication schedule for 2023	19
	19
My Journey With Arthrogryposis and Some of the People Who Made a Difference	18
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	15
	15
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	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	13
Genetic testing and glomerular hematuria—A nephrologist's perspective	13
Cover Image, Volume 190, Number 1, March 2022	13
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	13
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	13
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
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	11
Adult experiences in Beckwith–Wiedemann syndrome	11
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	11
Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosai	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	9
A plot TWIST	9
Table of Contents, Volume 199, Number 1, March 2025	9
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	8
Cover Image, Volume 190, Number 3, September 2022	8
In Utero Therapies, the Next Frontier	8
Table of Contents, Volume 190, Number 2, June 2022	8
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	8
Cover Image, Volume 196, Number 1, March 2024	8
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	7
Table of Contents, Volume 193, Number 4, December 2023	7
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	7
Cover Image, Volume 193, Number 1, March 2023	7
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	6
Genesis and genetics of a miracle	6
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	6
Circles	6
Table of Contents, Volume 193, Number 1, March 2023	6
Treatment of PDGFRB‐Related Penttinen Syndrome With Imatinib in a Young Child	6
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	6
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	6
Data sharing to advance gene‐targeted therapies in rare diseases	6
New prospectives on treatment opportunities in RASopathies	6
Artificial intelligence and the impact on medical genetics	6