European Journal of Medical Genetics

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 2021-06-01 to 2025-06-01.)
ArticleCitations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome57
Sex-linked genetic mechanisms and atrial fibrillation risk40
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy35
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant35
Cernunnos deficiency: Further delineation in 5 Egyptian patients30
Somatic mosaics in hereditary tumor predisposition syndromes30
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases27
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency24
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant24
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome22
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature22
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression21
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy18
Wolcott-Rallison Syndrome – crosstalk between PERK- EIF2A and type II interferon signaling.18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion18
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis17
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review17
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant16
Tissue specific trisomy 15 mosaicism associated with urogenital malformations16
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone15
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly15
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?15
Editorial Board15
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?15
Involvement of cranial nerves in ATTR Ile127Val amyloidosis15
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries15
The non-coding genome in Autism Spectrum Disorders14
A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility14
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine14
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome14
Jansen de Vries syndrome: Report of four new patients and review of the literature14
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM13
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome13
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth13
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review13
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A13
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype13
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 2213
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis13
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model13
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data13
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX712
Concurrent pathogenic variations in patients with hereditary cancer syndromes12
Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE12
Application of long read sequencing in rare diseases: The longer, the better?12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate12
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case11
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease11
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex11
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant11
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease11
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome11
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases11
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services11
Hydranencephaly in CENPJ-related Seckel syndrome11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature10
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature10
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition – An observational study from tertiary neonatal care unit in South India10
Genetic findings in patients with primary fibrotic atrial cardiomyopathy10
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia10
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants10
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes10
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia10
ITGB4-Related pyloric atresia without epidermolysis in two siblings10
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study10
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III10
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II10
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype10
Lessons learned from the RE(ACT) conference on medical devices for rare diseases10
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships9
Editorial Board9
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics9
Imaging in osteogenesis imperfecta: Where we are and where we are going9
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion9
Editorial Board9
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum9
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome9
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype9
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant9
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family9
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey9
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism9
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports8
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment8
Advances in genetic, epigenetic and environmental aspects of rare liver diseases8
Editorial Board8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome8
Demystifying gene(tic) therapies8
Cancer in 22q11.2 deletion syndrome: A case report and literature review8
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments8
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation8
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia8
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China8
Editorial Board8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?8
Challenges in variant interpretation in prenatal exome sequencing8
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood8
Associated anomalies in anophthalmia and microphthalmia8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review8
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups7
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy7
Metabolic profiling of Costello syndrome: Insights from a single-center cohort7
From biology to personalized medicine: Recent knowledge in osteosarcoma7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome7
NOTCH2 related disorders: Description and review of the fetal presentation7
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria7
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy7
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy7
Congenital heart defects in the recurrent 2q13 deletion syndrome7
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant7
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype7
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management6
SRD5A3-CDG: Twins with an intragenic tandem duplication6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK6
Life span care for patients with skeletal dysplasia: A roadmap6
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant6
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED26
Editorial Board6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus6
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes6
Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature6
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity6
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene6
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease6
Editorial Board6
Editorial Board6
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III6
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN36
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia6
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality6
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant6
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