European Journal of Medical Genetics

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
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
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	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
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
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
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
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
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9

Phenotypic discordance in monozygotic twins with a CDH2 variant	9
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
Demystifying gene(tic) therapies	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	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
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
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
French recommendations on multi-gene panel testing in renal cell carcinoma	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
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	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
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
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
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
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	5
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study	5
Editorial Board	5
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study	5
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia	5
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data	5
SMAD4 loss-of-function mutation predisposes to congenital heart disease	5
Pachydysostosis of the fibula in a case of familial adenomatous polyposis	5
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study	5
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome	5
SRD5A3-CDG: Twins with an intragenic tandem duplication	5
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	5
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	5
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome	5
Letter to the editor: Comment on “Involvement of cranial nerves in ATTR Ile127Val amyloidosis” by Silva Batista JAD et al. (Eur J Med Genet. 2022 Jul;65(7):104524) and report of 3 new patients	5
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	5
Familial inheritance of 14q terminal deletion syndrome and review of the literature	5
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	5
Editorial Board	5
Consensus recommendations on lymphedema in Phelan-McDermid syndrome	5
A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review	5
Secondary physical features in children with FASD	5
An European overview of genetic counselling supervision provision	5
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	5
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	5
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	5
LSM1 is the new candidate gene for neurodevelopmental disorder	5
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	5
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies	5
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome	5
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes	5
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review	5
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature	5
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs	5
An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank	5

Mosaicism in Hartsfield syndrome	5
Penetrance, variable expressivity and monogenic neurodevelopmental disorders	5
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant	5
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	5
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	5
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	5
Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management	5
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity	5
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS	4
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	4
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience	4
Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome	4
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection	4
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report	4
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?	4
Editorial Board	4
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome	4
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature	4
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13	4
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	4
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review	4
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	4
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	4
Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case	4
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings	4
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD	4
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns	4
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions	4
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan	4
Access to social services for undiagnosed rare disease patients in France: A pilot study	4
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	4
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	4
RHOA-associated disorder can be non-mosaic	4
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	4
Are NONO variants linked to congenital heart disease? Patient reports and review	4
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families	4
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome	4
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020	4
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	4
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”	4
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis	4
Editorial Board	4
Variable expressivity of a transmitted pathogenic KAT6B variant	4
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape	4
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory	3
Editorial Board	3
Letter to the Editor: Comment to Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)	3
Digital clubbing without hypoxia for lysinuric protein intolerance	3
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients	3
Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort	3
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation	3
A family with an atypical presentation of TBX3-related disorder	3
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome	3
Rare care – Cross-sector care coordination	3
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females	3
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study	3
An intermediate phenotype in IDH related enchondromatosis spectrum	3
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients	3
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	3
First reports of fetal SMARCC1 related hydrocephalus	3
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	3
A novel splicing variant in MICAL-1 gene is associated with epilepsy	3
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis	3
Re-evaluating acceptable risk of death from gene therapy: A threshold study among individuals with Duchenne muscular dystrophy and their caregivers in the US and UK	3
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype	3
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature	3
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations	3
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect	3
Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population	3
Editorial Board	3
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”	3
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review	3
Diagnostic yield of exome sequencing in congenital vertical talus	3
Editorial Board	3
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	3
Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents	3
Psychological predictors of cancer patients' and their relatives’ attitudes towards the return of genomic sequencing results	3
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review	3
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant	3
Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis	3
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature	3
Challenges of preconception genetic testing in France: A qualitative study	3
Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype	3
GRM7-related disorder: five additional patients from three independent families and review of the literature	3
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism	3