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 2021-11-01 to 2025-11-01.)

Article	Citations
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	82
Bone health in RASopathies	63
Correction to “The Rise of the Genetic Counseling Profession in China”	59
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	42
Endocrinological manifestations in RASopathies	41
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	39
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	31
Cover Image, Volume 187, Number 4, December 2021	30
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	30
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	30
Evolution of Health Care in Turner Syndrome	29
Down syndrome across the lifespan	29
Research Review of Myhre Syndrome	28
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	27
Table of Contents, Volume 196, Number 4, December 2024	25
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	23
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	23
Central nervous system involvement in individuals withRASopathies	22
Publication schedule for 2023	21
	21
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	21
Retrospective review of the code status of individuals with Down syndrome during the COVID‐19 era	19
Co‐occurring conditions in Down syndrome: Findings from a clinical database	19
Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome	18

My Journey With Arthrogryposis and Some of the People Who Made a Difference	18
	17
Advances in assessment of hypermobility‐related disorders	17
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	16
Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	15
Caregivers' concerns and supports needed to care for adults with Down syndrome	14
Cover Image, Volume 190, Number 1, March 2022	14
Genetic testing and glomerular hematuria—A nephrologist's perspective	14
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience	14
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	14
Family Lore, a Variant of Uncertain Significance, and CADASIL	14
Normal joint range of motion in children with Down syndrome	13
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	13
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes	13
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	13
A plot TWIST	12
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	12
In Utero Therapies, the Next Frontier	12
Adult experiences in Beckwith–Wiedemann syndrome	12
Table of Contents, Volume 199, Number 1, March 2025	11
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	11
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	11
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	11
Cover Image, Volume 196, Number 1, March 2024	11
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	10
Table of Contents, Volume 190, Number 2, June 2022	9
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	8
Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies	8
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	8
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	8
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	8
Cover Image, Volume 193, Number 1, March 2023	8
Data sharing to advance gene‐targeted therapies in rare diseases	8
Table of Contents, Volume 193, Number 4, December 2023	8
Cover Image, Volume 190, Number 3, September 2022	8
Circles	7
Treatment of PDGFRB‐Related Penttinen Syndrome With Imatinib in a Young Child	7
Table of Contents, Volume 193, Number 1, March 2023	7
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	7
Publication schedule for 2021	7
Genesis and genetics of a miracle	7
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	7
Table of Contents, Volume 193, Number 3, September 2023	6
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	6
Artificial intelligence and the impact on medical genetics	6
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	6
	6
Autosomal dominant tubulointerstitial kidney disease: A review	6
New prospectives on treatment opportunities in RASopathies	6
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome	6

The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	6
Cover Image, Volume 199, Number 1, March 2025	5
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	5
	5
Comment From the Guest Editors	5
The heart in RASopathies	4
	4
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	4
Publication schedule for 2023	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
Comments From the Guest Editors	4
Introduction to special issue for kidney genetics	4
Publication schedule for 2022	4
Invisible strings	4
Urogynaecology and Ehlers–Danlos syndrome	4
Cover Image, Volume 193, Number 3, September 2023	4
OFD1: One gene, several disorders	4
Newborn screening for neurodevelopmental diseases: Are we there yet?	4
Clinical overview on RASopathies	3
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	3
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	3
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	3
Molecular advances, clinical management, and treatment opportunities in RASopathies	3
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	3
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	3
On stillness	3
Cover Image, Volume 190, Number 2, June 2022	3
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
	2
The power of patient‐led global collaboration	2
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol	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
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	2
Why must the debate continue on Krabbe disease newborn screening?	2
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Applications of artificial intelligence in clinical laboratory genomics	2
Publication schedule for 2023	2
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	2
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	2
	1
DNAJC21‐related thrombocytopenia in a young adult female	1
Table of Contents, Volume 190, Number 4, December 2022	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1
Oral manifestations of Ehlers‐Danlos syndromes	1
Different, Not Less	1
Gene‐targeted therapies: Overview and implications	1
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
A Rorschach Test	1
Special issue: Newborn screening research	1
	1
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	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
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Note from the editors	1
Rod‐cone dystrophy in an adult with GNB1‐related disorder: An expansion of the phenotype and natural history	1
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations	1
	1
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome	1
Mental health in adults living with arthrogryposis multiplex congenita	1
Publication schedule for 2022	1
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	1
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	1
	1