OOIR: Observatory of International Research

Papers

(The TQCC of European Journal of Medical Genetics 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 2021-11-01 to 2025-11-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	74
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	46
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	45
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	35
Somatic mosaics in hereditary tumor predisposition syndromes	32
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	29
Sex-linked genetic mechanisms and atrial fibrillation risk	28
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	27
Cernunnos deficiency: Further delineation in 5 Egyptian patients	27
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	25
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	23
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	20
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	19
A novel RORA genetic variant associated with early-onset obesity and insomnia	19
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	19
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	18
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	17
Jansen de Vries syndrome: Report of four new patients and review of the literature	17
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	17
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	17
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	17
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	17
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	16
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	16

Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	16
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
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	16
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	15
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	15
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	15
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	15
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	15
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	15
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	14
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	14
The non-coding genome in Autism Spectrum Disorders	14
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	13
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	13
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data	13
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	13
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	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
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	12
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	12
Concurrent pathogenic variations in patients with hereditary cancer syndromes	12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	12
Application of long read sequencing in rare diseases: The longer, the better?	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
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	12
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	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
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	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
ITGB4-Related pyloric atresia without epidermolysis in two siblings	11
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	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
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	11
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	11
Imaging in osteogenesis imperfecta: Where we are and where we are going	10
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	10
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	10
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey	10
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	10
Editorial Board	10
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	10
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	10

Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	10
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	10
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	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
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	9
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	9
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	9
Challenges in variant interpretation in prenatal exome sequencing	9
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	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
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	9
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	9
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	9
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
Associated anomalies in anophthalmia and microphthalmia	8
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
Cancer in 22q11.2 deletion syndrome: A case report and literature review	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	8
From biology to personalized medicine: Recent knowledge in osteosarcoma	8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	8
Congenital heart defects in the recurrent 2q13 deletion syndrome	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	8
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
Demystifying gene(tic) therapies	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	7
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	7
Life span care for patients with skeletal dysplasia: A roadmap	7
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	7
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	7
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	7
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	7
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	7
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	7
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	7
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	7