OOIR: Observatory of International Research

Papers

(The TQCC of American Journal of Medical Genetics Part C-Seminars in Medical Geneti is 7. 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 2020-05-01 to 2024-05-01.)

Article	Citations
The epidemiology of sex chromosome abnormalities	60
Genetic admixture in Brazil	46
Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome	42
Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom	36
Genotype–phenotype correlates in Joubert syndrome: A review	36
An online compendium of treatable genetic disorders	32
Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey	24
Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges	22
Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome	22
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network	22
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases	22
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project	21
Experiences from the epicenter: Professional impact of the COVID‐19 pandemic on genetic counselors in New York	21
Metabolic and cardiovascular risk factors in Klinefelter syndrome	21
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospectiveeXtraordinarYbabies study to identify early risk factors and targets fo	21
Democratizing genomics: Leveraging software to make genetics an integral part of routine care	20
Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO	19
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females	18
OFD1: One gene, several disorders	18
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients	18
Clinical overview on RASopathies	18
Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders	18
Morbidity in Klinefelter syndrome and the effect of testosterone treatment	18
The Latin American network for congenital malformation surveillance: ReLAMC	18
The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)	17

Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome	17
Insights into the regulatory molecules involved in glaucoma pathogenesis	17
Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders—With a focus on the postural tachycardia syndrome	16
The new landscape of retinal gene therapy	16
C3 glomerulopathy: Understanding an ultra‐rare complement‐mediated renal disease	16
The molecular genetics of RASopathies: An update on novel disease genes and new disorders	15
Minipuberty in Klinefelter syndrome: Current status and future directions	15
Ocular coloboma: Genetic variants reveal a dynamic model of eye development	14
Epigenetics and genomics in Klinefelter syndrome	14
Newborn screening in Latin America: A brief overview of the state of the art	14
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology	14
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature	13
The role of cilia for hydrocephalus formation	13
Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies	13
	13
SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey	13
Rare sex chromosome variation 48,XXYY: An integrative review	12
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorder	12
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy	12
Newborn screening for neurodevelopmental diseases: Are we there yet?	12
High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey	12
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation	11
High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome	11
Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey	11
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis	11
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	10
Genetic testing for inherited retinal degenerations: Triumphs and tribulations	10
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders	10
The odyssey of complex neurogenetic disorders: From undetermined to positive	10
Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders	10
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil	10
Germ cell loss in Klinefelter syndrome: When and why?	10
Respiratory manifestations in the Ehlers–Danlos syndromes	10
Integration and reanalysis of transcriptomics and methylomics data derived from blood and testis tissue of men with 47,XXY Klinefelter syndrome indicates the primary involvement of Sertoli	10
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	9
Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition	9
Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese popula	9
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist	9
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease	9
Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes	9
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates	9
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins	9
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes	8
Skeletal dysplasias in Latin America	8
Surgical treatment of abdominal compression syndromes: The significance of hypermobility‐related disorders	8
Genomic imbalances in craniofacial microsomia	8
Applications of artificial intelligence in clinical laboratory genomics	8
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy	8
The heart in RASopathies	8
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community	8

Testicular function in boys with 47,XYY and relationship to phenotype	8
Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome	8
Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes	7
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies	7
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia	7
Executive function in XXY: Comparison of performance‐based measures and rating scales	7
Flype: Software for enabling personalized medicine	7
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract	7
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X	7
Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts	7
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome	7
Oral manifestations of Ehlers‐Danlos syndromes	7
Gene‐targeted therapies: Towards equitable development, diagnosis, and access	7
A diagnostic approach to syndromic retinal dystrophies with intellectual disability	7
Advances in assessment of hypermobility‐related disorders	7