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 2021-12-01 to 2025-12-01.)

Article	Citations
Bone health in RASopathies	84
Correction to “The Rise of the Genetic Counseling Profession in China”	68
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	63
Endocrinological manifestations in RASopathies	42
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	42
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	32
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	31
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	30
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	30
Cover Image, Volume 187, Number 4, December 2021	28
Down syndrome across the lifespan	27
Evolution of Health Care in Turner Syndrome	27
Table of Contents, Volume 196, Number 4, December 2024	23
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	22
Central nervous system involvement in individuals withRASopathies	22
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	21
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	20
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	19
Research Review of Myhre Syndrome	19
	18
Publication schedule for 2023	18
My Journey With Arthrogryposis and Some of the People Who Made a Difference	15
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	15
Co‐occurring conditions in Down syndrome: Findings from a clinical database	15
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	14

	14
Genetic testing and glomerular hematuria—A nephrologist's perspective	13
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	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
Cover Image, Volume 190, Number 1, March 2022	12
Caregivers' concerns and supports needed to care for adults with Down syndrome	12
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	11
Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosai	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	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
A plot TWIST	9
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	9
In Utero Therapies, the Next Frontier	9
Normal joint range of motion in children with Down syndrome	9
Table of Contents, Volume 199, Number 1, March 2025	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	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
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	8
Cover Image, Volume 193, Number 1, March 2023	7
Cover Image, Volume 190, Number 3, September 2022	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
Table of Contents, Volume 190, Number 2, June 2022	7
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	6
Circles	6
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	6
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	6
Publication schedule for 2021	6
Genesis and genetics of a miracle	6
Table of Contents, Volume 193, Number 4, December 2023	6
Data sharing to advance gene‐targeted therapies in rare diseases	6
Table of Contents, Volume 193, Number 1, March 2023	6
Artificial intelligence and the impact on medical genetics	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5
New prospectives on treatment opportunities in RASopathies	5
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	5
Treatment of PDGFRB‐Related Penttinen Syndrome With Imatinib in a Young Child	5
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	4
Table of Contents, Volume 193, Number 3, September 2023	4
	4
Cover Image, Volume 199, Number 1, March 2025	4
Autosomal dominant tubulointerstitial kidney disease: A review	4
Comment From the Guest Editors	4
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	4
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	4
	4
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene	3

Invisible strings	3
Publication schedule for 2022	3
The heart in RASopathies	3
Publication schedule for 2023	3
Comments From the Guest Editors	3
	3
Cover Image, Volume 193, Number 3, September 2023	3
OFD1: One gene, several disorders	3
Introduction to special issue for kidney genetics	3
Newborn screening for neurodevelopmental diseases: Are we there yet?	2
Cover Image, Volume 190, Number 2, June 2022	2
Clinical overview on RASopathies	2
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	2
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Applications of artificial intelligence in clinical laboratory genomics	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	2
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	2
On stillness	2
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
Molecular advances, clinical management, and treatment opportunities in RASopathies	2
Mental health in adults living with arthrogryposis multiplex congenita	1
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	1
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Why must the debate continue on Krabbe disease newborn screening?	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
Publication schedule for 2022	1
Special issue: Newborn screening research	1
Note from the editors	1
Gene‐targeted therapies: Overview and implications	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
Different, Not Less	1
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol	1
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	1
Publication schedule for 2023	1
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
	1
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	1
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	1
	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	1
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome	1
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