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 2021-02-01 to 2025-02-01.)

Article	Citations
Cover Image, Volume 196, Number 1, March 2024	50
The heart in RASopathies	27
	25
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed‐methods study	25
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	25
Depiction of Hāloa by Solomon Enos	23
Evolving technologies in medical genetics and genomics	23
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome	22
	21
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	20
Bone health in RASopathies	20
Clinical trials for genetic diseases in Latin America	20
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	19
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance	19
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	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
Publication schedule for 2023	18
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	18
Cover Image, Volume 193, Number 3, September 2023	14
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	13
The Myhre Syndrome Foundation as a global modern support group: The business of rare	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
Practicalities (and real‐life experiences) of dementia in adults with Down syndrome	11

Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic	10
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	10
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals	10
Pallister‐Hall syndrome, GLI3, and kidney malformation	10
Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic	10
Genotype–phenotype correlates in Joubert syndrome: A review	9
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	9
Oral manifestations of Ehlers‐Danlos syndromes	9
The role of cilia for hydrocephalus formation	9
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	9
Urogynaecology and Ehlers–Danlos syndrome	9
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening	8
Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(3):349–356. Doi:10.1002/ajmg.c.31915″	8
Invisible strings	8
Negative, normal, nondiagnostic	8
Pink, White, and Probability	7
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome	7
Different, Not Less	7
Neurocutaneous syndromes in art and antiquities	7
A plot TWIST	7
Table of Contents, Volume 196, Number 2‐3, November 2024	7
Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study	7
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway	6
Data sharing to advance gene‐targeted therapies in rare diseases	6
Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder	6
Ophthalmologic and neuro‐ophthalmologic findings in children with Down syndrome	6
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	6
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	6
Overgrowth in myth and art	6
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort	6
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	6
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics	6
The art of Robert J. Gorlin, DDS, MS	6
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders	5
Table of Contents, Volume 193, Number 4, December 2023	5
Northwest Indigenous Art and the Inspiring Spirits	5
	5
Mental health in adults living with arthrogryposis multiplex congenita	5
Table of Contents, Volume 187, Number 2, June 2021	5
Gene‐targeted therapies: Overview and implications	5
Publication schedule for 2022	5
Cover Image, Volume 193, Number 1, March 2023	4
Cover Image, Volume 190, Number 3, September 2022	4
Table of Contents, Volume 190, Number 3, September 2022	4
Endocrinological manifestations in RASopathies	4
	4
Introduction to special issue for kidney genetics	4
Publication schedule for 2021	4
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	4
Table of Contents, Volume 190, Number 2, June 2022	4

Publication schedule for 2022	4
Sustainability of personal social networks of people with Down syndrome	3
Newborn screening in Latin America: A brief overview of the state of the art	3
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant	3
Catatonia responsive to corticosteroids in a patient with an SCN2A variant	3
Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome	3
OFD1: One gene, several disorders	3
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	3
Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome	3
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	3
Obstetrics and gynecology in Ehlers‐Danlos syndrome: A brief review and update	3
Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review	3
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome	3
The discipline of dysmorphology and the beauty of art	2
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics	2
Publication schedule for 2022	2
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features	2
Cover Image, Volume 187, Number 4, December 2021	2
Central nervous system involvement in individuals withRASopathies	2
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome	2
Unmasking the challenges of Kabuki syndrome in adulthood: A case series	2
	2
The observation of art and the art of observing individuals with physical differences	2
Reflections on observing faces in art	2
Literature review: Genetic conditions or anomalies in artworks	2
Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations	2
Cover Image, Volume 190, Number 2, June 2022	2
A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes	2
Table of Contents, Volume 187, Number 1, March 2021	2
Newborn screening for neurodevelopmental diseases: Are we there yet?	2
Dermatological manifestations, management, and care in RASopathies	2
Table of Contents, Volume 193, Number 2, June 2023	2
Tribute to my sister: A new look at the X and O of Turner syndrome	2
Overlap between irritable bowel syndrome and hypermobileEhlers–Danlossyndrome: An unexplored clinical phenotype?	2
The growing power of Kidney Genetics	2
The Art of M. Michael Cohen, Jr.	2
Publication schedule for 2021	2
Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals	2
Publication schedule for 2022	2
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18	2
Down syndrome across the lifespan	2
Cover Image, Volume 193, Number 2, June 2023	2
Publication schedule for 2023	1
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations	1
Cover Image, Volume 187C, Number 3, September 2021	1
Molecular advances, clinical management, and treatment opportunities in RASopathies	1
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency	1
Table of Contents, Volume 196, Number 4, December 2024	1
Table of Contents, Volume 193, Number 1, March 2023	1
Network‐based analysis using chromosomal microdeletion syndromes as a model	1
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome	1
	1
Evolution of Health Care in Turner Syndrome	1
A Rorschach Test	1
Cancer incidence and surveillance strategies in individuals withRASopathies	1
Teaching healthcare professionals to see	1
Family adaptation in families of individuals with Down syndrome from 12 countries	1
Are we prepared to deliver gene‐targeted therapies for rare diseases?	1
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations	1
Quality of life measures in children with Down syndrome with disorders of gut–brain interaction	1
The National Institutes of Health INvestigation of Co‐occurring conditions across the Lifespan to Understand Down syndromE (INCLU	1
Circles	1
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes	1
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post‐analytical tools	1
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation	1
	1
Altered sleep architecture in children and adolescents with Down syndrome	1
	1
The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome	1
	1
The dream of a diagnosis	1
Special issue: Newborn screening research	1
Clinical overview on RASopathies	1
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth	1
Note from the editors	1
Arachnodactyly represented in art	1
New prospectives on treatment opportunities in RASopathies	1
Genesis and genetics of a miracle	1