European Journal of Medical Genetics

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	94
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	39
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	34
Cernunnos deficiency: Further delineation in 5 Egyptian patients	33
Rare features in Feingold syndrome type 1	33
A novel RORA genetic variant associated with early-onset obesity and insomnia	30
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	27
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	23
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	22
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	22
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	22
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	22
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	21
Jansen de Vries syndrome: Report of four new patients and review of the literature	20
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	20
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	19
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical–neuroimaging phenotypes	18
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings	18
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	17
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	17
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	17
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	16
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	16
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	16

Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	16
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	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
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	15
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	15
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	14
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	14
Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype	14
The non-coding genome in Autism Spectrum Disorders	14
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	14
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	13
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	13
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	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	13
Application of long read sequencing in rare diseases: The longer, the better?	13
ITGB4-Related pyloric atresia without epidermolysis in two siblings	12
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	12
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Familial hypertrophic cardiomyopathy associated with TBX1 variation	12
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	12
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	11
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	11
Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant	11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	11
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant	11
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	11
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
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
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
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	10
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	10
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	10
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	10
Editorial Board	10
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	9
Phenotypic discordance in monozygotic twins with a CDH2 variant	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	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

Recurrent MECR R258W causes adult-onset optic atrophy: A case report	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Demystifying gene(tic) therapies	8
French recommendations on multi-gene panel testing in renal cell carcinoma	8
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	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
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	7
Associated anomalies in anophthalmia and microphthalmia	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Cancer in 22q11.2 deletion syndrome: A case report and literature review	7
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	6
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	6
Life span care for patients with skeletal dysplasia: A roadmap	6
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	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
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	6
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis	6
Pachydysostosis of the fibula in a case of familial adenomatous polyposis	5
LSM1 is the new candidate gene for neurodevelopmental disorder	5
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	5
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	5
Editorial Board	5
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study	5
Editorial Board	5
An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank	5
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant	5
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome	5
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	5
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	5
Editorial Board	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
Familial inheritance of 14q terminal deletion syndrome and review of the literature	5
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome	5
Secondary physical features in children with FASD	5
An European overview of genetic counselling supervision provision	5
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia	5
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs	5
SMAD4 loss-of-function mutation predisposes to congenital heart disease	5
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study	5
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature	5
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	5
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	5
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	5
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	5
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity	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
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
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	5
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study	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
Penetrance, variable expressivity and monogenic neurodevelopmental disorders	5
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data	5
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	5
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	5

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions	4
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	4
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?	4
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome	4
Editorial Board	4
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings	4
MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family	4
Are NONO variants linked to congenital heart disease? Patient reports and review	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
Variable expressivity of a transmitted pathogenic KAT6B variant	4
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	4
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	4
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	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
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis	4
Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case	4
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns	4
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13	4
Editorial Board	4
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan	4
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	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
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	4
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience	4
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism	4
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report	4
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families	4
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”	4
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS	4
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape	4
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review	4
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	4
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome	4
RHOA-associated disorder can be non-mosaic	4
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes	4
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	4
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation	3
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect	3
Challenges of preconception genetic testing in France: A qualitative study	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
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females	3
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	3
Diagnostic yield of exome sequencing in congenital vertical talus	3
Psychological predictors of cancer patients' and their relatives’ attitudes towards the return of genomic sequencing results	3
Editorial Board	3
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature	3
Digital clubbing without hypoxia for lysinuric protein intolerance	3
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	3
Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort	3
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype	3
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant	3
Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents	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
Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population	3
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature	3
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal	3
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review	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
Rare care – Cross-sector care coordination	3
A novel splicing variant in MICAL-1 gene is associated with epilepsy	3
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients	3
A family with an atypical presentation of TBX3-related disorder	3
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients	3
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory	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
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome	3
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	3
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations	3
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation	3
First reports of fetal SMARCC1 related hydrocephalus	3
Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis	3
Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report	3
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review	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