OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 4. 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
	27
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
Depiction of Hāloa by Solomon Enos	26
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	25
	25
Bone health in RASopathies	23
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	20
In Utero Therapies, the Next Frontier	19
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
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1	18
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
Publication schedule for 2023	17
Cover Image, Volume 193, Number 3, September 2023	15
Privacy, bias and the clinical use of facial recognition technology: A survey of genetics professionals	14
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	14
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews	13
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

Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	12
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
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic	11
Urogynaecology and Ehlers–Danlos syndrome	11
Clinical trials for genetic diseases in Latin America	11
Invisible strings	10
The role of cilia for hydrocephalus formation	10
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
Neurocutaneous syndromes in art and antiquities	9
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
Pallister‐Hall syndrome, GLI3, and kidney malformation	8
Genotype–phenotype correlates in Joubert syndrome: A review	8
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
Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review	7
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
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
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
	5
The art of Robert J. Gorlin, DDS, MS	5
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
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
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