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 2021-09-01 to 2025-09-01.)

Article	Citations
Bone health in RASopathies	74
Clinical trials for genetic diseases in Latin America	60
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	51
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	40
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	40
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	36
Endocrinological manifestations in RASopathies	36
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	30
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	29
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	29
Cover Image, Volume 187, Number 4, December 2021	29
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	28
Research Review of Myhre Syndrome	28
Down syndrome across the lifespan	27
Evolution of Health Care in Turner Syndrome	26
Table of Contents, Volume 196, Number 4, December 2024	25
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	21
Central nervous system involvement in individuals withRASopathies	21
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	20
Publication schedule for 2023	19
	19
Co‐occurring conditions in Down syndrome: Findings from a clinical database	18
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	18
Advances in assessment of hypermobility‐related disorders	17

	16
My Journey With Arthrogryposis and Some of the People Who Made a Difference	16
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	16
Caregivers' concerns and supports needed to care for adults with Down syndrome	15
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	14
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	14
Genetic testing and glomerular hematuria—A nephrologist's perspective	14
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	14
Cover Image, Volume 190, Number 1, March 2022	13
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	13
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	12
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	12
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	12
Family Lore, a Variant of Uncertain Significance, and CADASIL	12
Normal joint range of motion in children with Down syndrome	11
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	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
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	10
A plot TWIST	10
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	10
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	10
Table of Contents, Volume 199, Number 1, March 2025	10
In Utero Therapies, the Next Frontier	10
Cover Image, Volume 196, Number 1, March 2024	10
Cover Image, Volume 190, Number 3, September 2022	9
Table of Contents, Volume 190, Number 2, June 2022	9
Cover Image, Volume 193, Number 1, March 2023	9
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	8
Table of Contents, Volume 193, Number 4, December 2023	8
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	8
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	8
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	8
Data sharing to advance gene‐targeted therapies in rare diseases	8
Genesis and genetics of a miracle	7
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	7
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	7
New prospectives on treatment opportunities in RASopathies	7
Publication schedule for 2021	7
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	7
Circles	7
Table of Contents, Volume 193, Number 1, March 2023	7
Artificial intelligence and the impact on medical genetics	6
	6
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	6
Autosomal dominant tubulointerstitial kidney disease: A review	6
Treatment of PDGFRB‐Related Penttinen Syndrome With Imatinib in a Young Child	6
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	5
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	5

Table of Contents, Volume 193, Number 3, September 2023	5
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	5
Cover Image, Volume 199, Number 1, March 2025	5
	5
Comment From the Guest Editors	5
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	5
Invisible strings	4
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	4
	4
Urogynaecology and Ehlers–Danlos syndrome	4
Publication schedule for 2023	4
Cover Image, Volume 193, Number 3, September 2023	4
The heart in RASopathies	4
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene	4
Newborn screening for neurodevelopmental diseases: Are we there yet?	3
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	3
Clinical overview on RASopathies	3
On stillness	3
Introduction to special issue for kidney genetics	3
OFD1: One gene, several disorders	3
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	3
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	3
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	3
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	3
Cover Image, Volume 190, Number 2, June 2022	3
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	3
Molecular advances, clinical management, and treatment opportunities in RASopathies	3
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	3
Publication schedule for 2022	3
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	2
	2
Applications of artificial intelligence in clinical laboratory genomics	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	2
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
	2
The power of patient‐led global collaboration	2
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	1
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
	1
	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	1
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	1
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol	1
Publication schedule for 2022	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Gene‐targeted therapies: Overview and implications	1
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	1
Publication schedule for 2023	1
Why must the debate continue on Krabbe disease newborn screening?	1
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	1
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
Note from the editors	1
Mental health in adults living with arthrogryposis multiplex congenita	1
Different, Not Less	1
Oral manifestations of Ehlers‐Danlos syndromes	1