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 2021-04-01 to 2025-04-01.)

Article	Citations
Cover Image, Volume 196, Number 1, March 2024	55
The heart in RASopathies	47
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	38
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	29
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	27
Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study	27
	27
Depiction of Hāloa by Solomon Enos	26
	25
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	25
Bone health in RASopathies	23
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	20
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals	19
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	19
In Utero Therapies, the Next Frontier	19
The portrayal of people with dwarfism in Chinese art	18
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance	18
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	18
Publication schedule for 2023	17
Cover Image, Volume 193, Number 3, September 2023	15
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	14
Privacy, bias and the clinical use of facial recognition technology: A survey of genetics professionals	14
Turner Syndrome and Psychosocial Interventions: Recommendations for Collaborative Communication Between Medical and School Teams	13
The Myhre Syndrome Foundation as a global modern support group: The business of rare	13
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews	13

Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	12
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene	12
Oral manifestations of Ehlers‐Danlos syndromes	12
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	12
Urogynaecology and Ehlers–Danlos syndrome	11
Clinical trials for genetic diseases in Latin America	11
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic	11
Negative, normal, nondiagnostic	10
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	10
Pink, White, and Probability	10
Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(3):349–356. Doi:10.1002/ajmg.c.31915″	10
Invisible strings	10
The role of cilia for hydrocephalus formation	10
Different, Not Less	9
Table of Contents, Volume 196, Number 2‐3, November 2024	9
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome	9
A plot TWIST	9
Neurocutaneous syndromes in art and antiquities	9
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	8
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	8
Pallister‐Hall syndrome, GLI3, and kidney malformation	8
Genotype–phenotype correlates in Joubert syndrome: A review	8
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	7
Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review	7
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	6
Northwest Indigenous Art and the Inspiring Spirits	6
Overgrowth in myth and art	6
Publication schedule for 2022	6
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	6
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders	6
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	6
Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder	6
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome	6
Table of Contents, Volume 187, Number 2, June 2021	6
Mental health in adults living with arthrogryposis multiplex congenita	6
Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome	5
Cover Image, Volume 193, Number 1, March 2023	5
Table of Contents, Volume 193, Number 4, December 2023	5
	5
The art of Robert J. Gorlin, DDS, MS	5
Publication schedule for 2022	4
Cover Image, Volume 190, Number 3, September 2022	4
Table of Contents, Volume 190, Number 3, September 2022	4
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	4
Table of Contents, Volume 190, Number 2, June 2022	4
Introduction to special issue for kidney genetics	4
Endocrinological manifestations in RASopathies	4
Publication schedule for 2021	4
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	4

Sustainability of personal social networks of people with Down syndrome	4
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	3
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	3
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	3
Newborn screening for neurodevelopmental diseases: Are we there yet?	3
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	3
Unmasking the challenges of Kabuki syndrome in adulthood: A case series	3
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	3
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	3
OFD1: One gene, several disorders	3
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	3
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	3
Publication schedule for 2022	2
Data sharing to advance gene‐targeted therapies in rare diseases	2
Down syndrome across the lifespan	2
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	2
Note from the editors	2
	2
The discipline of dysmorphology and the beauty of art	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
Table of Contents, Volume 193, Number 2, June 2023	2
Publication schedule for 2021	2
Central nervous system involvement in individuals withRASopathies	2
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway	2
Gene‐targeted therapies: Overview and implications	2
The Art of M. Michael Cohen, Jr.	2
New prospectives on treatment opportunities in RASopathies	2
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	2
The observation of art and the art of observing individuals with physical differences	2
Reflections on observing faces in art	2
Cover Image, Volume 190, Number 2, June 2022	2
	2
Cover Image, Volume 187, Number 4, December 2021	2
Growth and Growth‐Promoting Treatments in Turner Syndrome	2
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	2
Cover Image, Volume 193, Number 2, June 2023	2
The growing power of Kidney Genetics	2
Publication schedule for 2022	2
Tribute to my sister: A new look at the X and O of Turner syndrome	2
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	2
Arachnodactyly represented in art	2
Literature review: Genetic conditions or anomalies in artworks	2
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	2
Dermatological manifestations, management, and care in RASopathies	2
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	2
The dream of a diagnosis	1
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth	1
Are we prepared to deliver gene‐targeted therapies for rare diseases?	1
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials	1
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome	1
	1
Molecular advances, clinical management, and treatment opportunities in RASopathies	1
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	1
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	1
Table of Contents, Volume 193, Number 1, March 2023	1
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	1
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	1
Evolution of Health Care in Turner Syndrome	1
	1
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations	1
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	1
Publication schedule for 2023	1
Artificial intelligence and the impact on medical genetics	1
Genesis and genetics of a miracle	1
Family adaptation in families of individuals with Down syndrome from 12 countries	1
Table of Contents, Volume 196, Number 4, December 2024	1
	1
Circles	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	1
Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success	1
Cover Image, Volume 187C, Number 3, September 2021	1
	1
Cancer incidence and surveillance strategies in individuals withRASopathies	1
A painting of the Christ Child with bowed legs: Rickets in the Renaissance	1
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	1
Clinical overview on RASopathies	1
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome	1