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 2021-12-01 to 2025-12-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	75
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	48
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	46
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	35
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	28
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	28
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	28
Somatic mosaics in hereditary tumor predisposition syndromes	27
A novel RORA genetic variant associated with early-onset obesity and insomnia	26
Cernunnos deficiency: Further delineation in 5 Egyptian patients	24
Sex-linked genetic mechanisms and atrial fibrillation risk	23
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	19
Rare features in Feingold syndrome type 1	19
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	19
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	18
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	18
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	17
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	17
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	17
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	17
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	17
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	17
Jansen de Vries syndrome: Report of four new patients and review of the literature	17
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	17
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	17

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	16
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
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	16
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	15
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	15
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	15
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	15
The non-coding genome in Autism Spectrum Disorders	14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data	14
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	14
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	13
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	13
Familial hypertrophic cardiomyopathy associated with TBX1 variation	13
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	13
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Concurrent pathogenic variations in patients with hereditary cancer syndromes	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	12
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	12
Application of long read sequencing in rare diseases: The longer, the better?	12
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	12
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	12
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants	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
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	12
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
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	11
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	11
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	11
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	11
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	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
ITGB4-Related pyloric atresia without epidermolysis in two siblings	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
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	11
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	11
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	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
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	10
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	10

Editorial Board	10
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	9
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	9
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	9
Editorial Board	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Editorial Board	9
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	9
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey	9
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	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
Challenges in variant interpretation in prenatal exome sequencing	9
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	8
Demystifying gene(tic) therapies	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	8
Cancer in 22q11.2 deletion syndrome: A case report and literature review	8
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	8
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	7
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	7
Associated anomalies in anophthalmia and microphthalmia	7
Congenital heart defects in the recurrent 2q13 deletion syndrome	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	7
Life span care for patients with skeletal dysplasia: A roadmap	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
French recommendations on multi-gene panel testing in renal cell carcinoma	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	7
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	6
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	6
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation	6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	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
Editorial Board	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III	6
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	6
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	6
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
Editorial Board	6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	6
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	6