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 2022-05-01 to 2026-05-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	91
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	39
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	33
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	33
A novel RORA genetic variant associated with early-onset obesity and insomnia	32
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	29
Rare features in Feingold syndrome type 1	27
Cernunnos deficiency: Further delineation in 5 Egyptian patients	26
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	22
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	22
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	22
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	21
Jansen de Vries syndrome: Report of four new patients and review of the literature	20
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	20
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	20
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	19
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	18
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	18
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	18
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	17
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings	17
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	16
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical–neuroimaging phenotypes	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	15

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
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	15
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	15
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	14
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	14
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	14
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	13
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	13
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	13
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype	13
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	13
The non-coding genome in Autism Spectrum Disorders	13
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	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
Familial hypertrophic cardiomyopathy associated with TBX1 variation	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE	12
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	12
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	12
Application of long read sequencing in rare diseases: The longer, the better?	12
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	11
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	11
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	11
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	11
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant	11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	11
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	10
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	10
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	10
Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant	10
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	10
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	10
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9
Phenotypic discordance in monozygotic twins with a CDH2 variant	9
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	9
Editorial Board	9
Editorial Board	9
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	9
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	9
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	9

ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
Demystifying gene(tic) therapies	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
French recommendations on multi-gene panel testing in renal cell carcinoma	8
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	8
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	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
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	7
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Associated anomalies in anophthalmia and microphthalmia	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Cancer in 22q11.2 deletion syndrome: A case report and literature review	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
Life span care for patients with skeletal dysplasia: A roadmap	6
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	6
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	6
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
Editorial Board	6
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	6
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	6