OOIR: Observatory of International Research

Papers

(The TQCC of European Journal of Medical Genetics 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 2022-06-01 to 2026-06-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	94
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	39
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	34
Rare features in Feingold syndrome type 1	33
Cernunnos deficiency: Further delineation in 5 Egyptian patients	33
A novel RORA genetic variant associated with early-onset obesity and insomnia	30
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	27
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	23
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	22
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	22
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	22
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	22
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	21
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	20
Jansen de Vries syndrome: Report of four new patients and review of the literature	20
A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility	19
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings	18
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical–neuroimaging phenotypes	18
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	17
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	17
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	17
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	16
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	16
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	16

De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	16
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data	15
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	15
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	15
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	15
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype	14
The non-coding genome in Autism Spectrum Disorders	14
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	14
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	14
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	14
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	13
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	13
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	13
Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE	13
Application of long read sequencing in rare diseases: The longer, the better?	13
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Familial hypertrophic cardiomyopathy associated with TBX1 variation	12
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	12
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
ITGB4-Related pyloric atresia without epidermolysis in two siblings	12
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	12
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	11
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant	11
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	11
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	11
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	11
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants	11
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	11
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	11
Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant	11
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	10
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	10
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	10
Editorial Board	10
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	10
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	10
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	10
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	9
Editorial Board	9
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	9
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	9

Phenotypic discordance in monozygotic twins with a CDH2 variant	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
Demystifying gene(tic) therapies	8
French recommendations on multi-gene panel testing in renal cell carcinoma	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	7
Associated anomalies in anophthalmia and microphthalmia	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Cancer in 22q11.2 deletion syndrome: A case report and literature review	7
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	6
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	6
Life span care for patients with skeletal dysplasia: A roadmap	6
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	6
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management	6
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	6
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	6
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis	6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6