OOIR: Observatory of International Research

Papers

(The median citation count of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 1. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Correction to “The Rise of the Genetic Counseling Profession in China”	81
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	78
Bone health in RASopathies	50
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	47
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	42
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	34
Endocrinological manifestations in RASopathies	34
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	34
Down syndrome across the lifespan	29
Evolution of Health Care in Turner Syndrome	25
Central nervous system involvement in individuals withRASopathies	24
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	24
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	24
	23
Research Review of Myhre Syndrome	22
Table of Contents, Volume 196, Number 4, December 2024	22
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	22
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype–Phenotype Correlation	18
Publication schedule for 2023	17
	17
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	17
My Journey With Arthrogryposis and Some of the People Who Made a Difference	16
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
	14

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation	13
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	13
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	13
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	13
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	13
Caregivers' concerns and supports needed to care for adults with Down syndrome	12
Genetic testing and glomerular hematuria—A nephrologist's perspective	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	10
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	10
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	9
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	9
Normal joint range of motion in children with Down syndrome	9
Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosai	9
Adult experiences in Beckwith–Wiedemann syndrome	9
A plot TWIST	8
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	8
Cover Image, Volume 196, Number 1, March 2024	8
In Utero Therapies, the Next Frontier	8
Table of Contents, Volume 199, Number 1, March 2025	8
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Cover Image, Volume 193, Number 1, March 2023	7
Table of Contents, Volume 193, Number 4, December 2023	7
Table of Contents, Volume 190, Number 2, June 2022	7
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
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
Data sharing to advance gene‐targeted therapies in rare diseases	6
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	6
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Genesis and genetics of a miracle	5
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5
Treatment of PDGFRB ‐Related Penttinen Syndrome With Imatinib in a Young Child	5
Autosomal dominant tubulointerstitial kidney disease: A review	5
Circles	5
Table of Contents, Volume 193, Number 1, March 2023	5
New prospectives on treatment opportunities in RASopathies	5
Table of Contents, Volume 193, Number 3, September 2023	4
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome	4
Comment From the Guest Editors	4
Table of Contents, Volume 199, Number 3, September 2025	4
Cover Image, Volume 199, Number 1, March 2025	4
Artificial intelligence and the impact on medical genetics	4
	4
Invisible strings	3
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	3
Publication schedule for 2023	3
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	3

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	3
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	3
	3
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	3
Cover Image, Volume 193, Number 3, September 2023	3
	3
Newborn screening for neurodevelopmental diseases: Are we there yet?	3
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neuro	3
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies	3
The heart in RASopathies	3
Comments From the Guest Editors	3
Introduction to special issue for kidney genetics	3
Cover Image, Volume 190, Number 2, June 2022	3
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Molecular advances, clinical management, and treatment opportunities in RASopathies	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	2
Publication schedule for 2023	2
Clinical overview on RASopathies	2
On stillness	2
Applications of artificial intelligence in clinical laboratory genomics	2
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	2
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	2
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	2
Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors	2
Why must the debate continue on Krabbe disease newborn screening?	2
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents	1
DNAJC21‐related thrombocytopenia in a young adult female	1
Mental health in adults living with arthrogryposis multiplex congenita	1
	1
Publication schedule for 2022	1
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	1
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	1
Different, Not Less	1
Gene‐targeted therapies: Overview and implications	1
	1
Special issue: Newborn screening research	1
	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
Multiorgan manifestations of COL4A1 and COL4A2<	1
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
Note from the editors	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	1
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Cover Image, Volume 199, Number 3, September 2025	1