OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 6. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Genetic admixture in Brazil	56
Genotype–phenotype correlates in Joubert syndrome: A review	43
An online compendium of treatable genetic disorders	36
Patients withEhlers–Danlossyndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	27
Clinical overview on RASopathies	25
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	25
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases	23
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	23
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project	23
Democratizing genomics: Leveraging software to make genetics an integral part of routine care	22
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	22
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology	22
The Latin American network for congenital malformation surveillance: ReLAMC	21
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	21
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York	21
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	20
Newborn screening in Latin America: A brief overview of the state of the art	20
OFD1: One gene, several disorders	19
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	18
Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome	18
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups	17
The role of cilia for hydrocephalus formation	17
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey	16
Newborn screening for neurodevelopmental diseases: Are we there yet?	16
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder	15

High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	14
SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey	14
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	13
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients	13
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes	13
The heart in RASopathies	12
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	12
Applications of artificial intelligence in clinical laboratory genomics	11
Respiratory manifestations in the Ehlers–Danlos syndromes	11
Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders	10
Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes	10
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	10
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist	10
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	10
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome	9
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	9
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation	9
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	9
Gene‐targeted therapies: Towards equitable development, diagnosis, and access	9
New prospectives on treatment opportunities in RASopathies	9
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	9
Genomic imbalances in craniofacial microsomia	9
A review of economic issues for gene‐targeted therapies: Value, affordability, and access	8
Skeletal dysplasias in Latin America	8
Oral manifestations of Ehlers‐Danlos syndromes	8
Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability	8
Are we prepared to deliver gene‐targeted therapies for rare diseases?	8
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	8
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community	8
Flype: Software for enabling personalized medicine	8
Advances in assessment of hypermobility‐related disorders	7
Cancer incidence and surveillance strategies in individuals withRASopathies	7
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies	7
Autosomal dominant tubulointerstitial kidney disease: A review	7
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers	7
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, andEhlers–Danlossyndromes	7
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia	7
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile	7
Data sharing to advance gene‐targeted therapies in rare diseases	7
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias	6
Incorporating genetics services into adult kidney disease care	6
Some cases of hypermobile Ehlers–Danlos syndrome may be rooted in mast cell activation syndrome	6
Neurocutaneous syndromes in art and antiquities	6
Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health	6
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review	6
Teaching healthcare professionals to see	6
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients	6
Pallister‐Hall syndrome, GLI3, and kidney malformation	6
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care	6
Digital peer‐to‐peer information seeking and sharing: Opportunities for education and collaboration in newborn screening	6

Building an infrastructure to enable delivery of genomic medicine	6
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective	6