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 2021-06-01 to 2025-06-01.)

Article	Citations
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	67
Bone health in RASopathies	52
Clinical trials for genetic diseases in Latin America	45
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	38
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	35
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	32
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	29
Endocrinological manifestations in RASopathies	29
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	28
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	27
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	26
Cover Image, Volume 187, Number 4, December 2021	26
Down syndrome across the lifespan	24
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	24
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	24
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	22
Table of Contents, Volume 196, Number 4, December 2024	21
Central nervous system involvement in individuals withRASopathies	20
Evolution of Health Care in Turner Syndrome	20
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	19
	18
My Journey With Arthrogryposis and Some of the People Who Made a Difference	17
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	16
Advances in assessment of hypermobility‐related disorders	16
Publication schedule for 2023	16

Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	15
Caregivers' concerns and supports needed to care for adults with Down syndrome	14
Co‐occurring conditions in Down syndrome: Findings from a clinical database	14
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	14
	14
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	12
Genetic testing and glomerular hematuria—A nephrologist's perspective	12
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	12
Adult experiences in Beckwith–Wiedemann 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
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	11
Cover Image, Volume 190, Number 1, March 2022	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	11
Normal joint range of motion in children with Down syndrome	11
A plot TWIST	10
Cover Image, Volume 196, Number 1, March 2024	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	10
In Utero Therapies, the Next Frontier	10
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	10
Table of Contents, Volume 199, Number 1, March 2025	9
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	9
Cover Image, Volume 190, Number 3, September 2022	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	8
Table of Contents, Volume 190, Number 2, June 2022	8
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	8
Cover Image, Volume 193, Number 1, March 2023	8
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
Table of Contents, Volume 193, Number 1, March 2023	7
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	7
Data sharing to advance gene‐targeted therapies in rare diseases	7
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	7
New prospectives on treatment opportunities in RASopathies	7
Table of Contents, Volume 193, Number 4, December 2023	7
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	7
Publication schedule for 2021	7
Circles	7
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	6
Genesis and genetics of a miracle	6
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	6
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	6
	5
	5
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	5
Cover Image, Volume 199, Number 1, March 2025	5
Artificial intelligence and the impact on medical genetics	5
Autosomal dominant tubulointerstitial kidney disease: A review	5

Table of Contents, Volume 193, Number 3, September 2023	5
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
Urogynaecology and Ehlers–Danlos syndrome	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
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	4
Publication schedule for 2023	4
Invisible strings	4
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	4
Comment From the Guest Editors	4
Cover Image, Volume 193, Number 3, September 2023	4
	3
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	3
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	3
Publication schedule for 2022	3
Newborn screening for neurodevelopmental diseases: Are we there yet?	3
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	3
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	3
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	3
The heart in RASopathies	3
Table of Contents, Volume 187, Number 2, June 2021	3
Introduction to special issue for kidney genetics	3
Cover Image, Volume 190, Number 2, June 2022	3
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	3
	3
OFD1: One gene, several disorders	3
Molecular advances, clinical management, and treatment opportunities in RASopathies	2
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	2
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
Cover Image, Volume 187, Number 2, June 2021	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
	2
Clinical overview on RASopathies	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Applications of artificial intelligence in clinical laboratory genomics	2
On stillness	2
Why must the debate continue on Krabbe disease newborn screening?	1
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
Oral manifestations of Ehlers‐Danlos syndromes	1
Publication schedule for 2022	1
The power of patient‐led global collaboration	1
	1
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol	1
Different, Not Less	1
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	1
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	1
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	1
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	1
Publication schedule for 2023	1
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	1
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	1
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	1
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	1