European Journal of Medical Genetics

Article	Citations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	66
Sex-linked genetic mechanisms and atrial fibrillation risk	44
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	40
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	36
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	33
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	32
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	27
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	25
Somatic mosaics in hereditary tumor predisposition syndromes	24
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	23
Cernunnos deficiency: Further delineation in 5 Egyptian patients	23
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	23
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	22
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	20
A novel RORA genetic variant associated with early-onset obesity and insomnia	18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	18
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	17
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	16
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	16
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	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
Editorial Board	16
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	16
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	15
Jansen de Vries syndrome: Report of four new patients and review of the literature	15

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	15
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	15
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	15
The non-coding genome in Autism Spectrum Disorders	15
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	15
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	15
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	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
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	14
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	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
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	13
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	13
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	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	12
Hydranencephaly in CENPJ-related Seckel syndrome	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
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
Application of long read sequencing in rare diseases: The longer, the better?	12
Concurrent pathogenic variations in patients with hereditary cancer syndromes	12
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	12
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	11
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	11
ITGB4-Related pyloric atresia without epidermolysis in two siblings	11
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	11
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	11
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	11
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	11
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	11
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease	11
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	10
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	10
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	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
Editorial Board	10
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	10
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia	10
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	10
Editorial Board	10
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	10
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	10
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	10
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex	10

Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	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	9
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	9
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	9
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	9
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	9
Editorial Board	9
Challenges in variant interpretation in prenatal exome sequencing	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
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	9
Cancer in 22q11.2 deletion syndrome: A case report and literature review	8
From biology to personalized medicine: Recent knowledge in osteosarcoma	8
Associated anomalies in anophthalmia and microphthalmia	8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	8
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	8
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	8
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	8
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
Congenital heart defects in the recurrent 2q13 deletion syndrome	8
Demystifying gene(tic) therapies	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	7
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease	7
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	7
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	7
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	7
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome	7
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	7
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
Editorial Board	6
Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature	6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
Editorial Board	6
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	6
Life span care for patients with skeletal dysplasia: A roadmap	6
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	6
Editorial Board	6
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	6

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	6