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 2022-08-01 to 2026-08-01.)

Article	Citations
Bone health in RASopathies	89
Correction to “The Rise of the Genetic Counseling Profession in China”	86
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	52
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	40
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	38
Endocrinological manifestations in RASopathies	32
Down syndrome across the lifespan	27
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	26
Evolution of Health Care in Turner Syndrome	25
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	23
Table of Contents, Volume 196, Number 4, December 2024	22
Central nervous system involvement in individuals withRASopathies	20
	19
A Genomic Analysis of Usher Syndrome: Population‐Scale Prevalence and Therapeutic Targets	19
Research Review of Myhre Syndrome	17
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype–Phenotype Correlation	16
My Journey With Arthrogryposis and Some of the People Who Made a Difference	16
Publication schedule for 2023	16
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
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education	14
	13
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome	12
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation	12
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype	12

Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series	11
Family Lore, a Variant of Uncertain Significance, and CADASIL	10
Caregivers' concerns and supports needed to care for adults with Down syndrome	10
Adult experiences in Beckwith–Wiedemann syndrome	10
Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosai	10
Table of Contents, Volume 199, Number 1, March 2025	9
Normal joint range of motion in children with Down syndrome	9
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	9
Occurrence of mosaic Down syndrome and prevalence of co‐occurring conditions in Medicaid enrolled adults, 2016–2019	9
A plot TWIST	9
Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”	9
Cover Image, Volume 196, Number 1, March 2024	8
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Data sharing to advance gene‐targeted therapies in rare diseases	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
Table of Contents, Volume 193, Number 4, December 2023	7
In Utero Therapies, the Next Frontier	7
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	7
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review	7
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	6
Cover Image, Volume 193, Number 1, March 2023	6
Genesis and genetics of a miracle	5
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	5
Table of Contents, Volume 193, Number 1, March 2023	5
New prospectives on treatment opportunities in RASopathies	5
Circles	5
Treatment of PDGFRB ‐Related Penttinen Syndrome With Imatinib in a Young Child	5
Table of Contents, Volume 193, Number 3, September 2023	4
Artificial intelligence and the impact on medical genetics	4
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome	4
Upper Extremity Entrapment Neuropathies in Adults With Arthrogryposis Multiplex Congenita: A National Database Study	4
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research	4
Autosomal dominant tubulointerstitial kidney disease: A review	4
	4
Table of Contents, Volume 199, Number 3, September 2025	4
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	4
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer	4
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies	3
Introduction to special issue for kidney genetics	3
Publication schedule for 2023	3
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	3
The heart in RASopathies	3
Invisible strings	3
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder	3
Cover Image, Volume 199, Number 1, March 2025	3
	3
Comments From the Guest Editors	3
	3

Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	3
Comment From the Guest Editors	3
Cover Image, Volume 193, Number 3, September 2023	3
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neuro	3
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	3
Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases	2
Healthy transition: Roadmap for young adults with Down syndrome to adulthood	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
On stillness	2
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal	2
Family adaptation in families of individuals with Down syndrome from 12 countries	2
Apical Ectodermal Ridge Disruption and Hypoplastic Digits in Amyoplasia	2
Clinical overview on RASopathies	2
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	2
Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors	2
Spreading the Word: Communicating Evidence‐Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors	2
Applications of artificial intelligence in clinical laboratory genomics	2
Molecular advances, clinical management, and treatment opportunities in RASopathies	2
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	1
Publication schedule for 2023	1
Growth and Growth‐Promoting Treatments in Turner Syndrome	1
Publication schedule for 2022	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
	1
Gene‐targeted therapies: Overview and implications	1
Cover Image, Volume 199, Number 3, September 2025	1
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents	1
Multiorgan manifestations of COL4A1 and COL4A2<	1
Different, Not Less	1
Mental health in adults living with arthrogryposis multiplex congenita	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
	1
	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
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	1
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	1
Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment	1
Note from the editors	1
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	1