European Journal of Medical Genetics

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	77
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	48
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	36
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	28
A novel RORA genetic variant associated with early-onset obesity and insomnia	28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	28
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	28
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	26
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	24
Cernunnos deficiency: Further delineation in 5 Egyptian patients	24
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	19
Sex-linked genetic mechanisms and atrial fibrillation risk	19
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	19
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	19
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	19
Rare features in Feingold syndrome type 1	19
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	18
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	18
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	18
Jansen de Vries syndrome: Report of four new patients and review of the literature	17
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	17
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	17
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	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

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	16
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
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	15
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	15
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	15
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	15
The non-coding genome in Autism Spectrum Disorders	14
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	14
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	14
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	14
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	13
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	13
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	12
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	12
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	12
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	12
Application of long read sequencing in rare diseases: The longer, the better?	12
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	12
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	12
ITGB4-Related pyloric atresia without epidermolysis in two siblings	12
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	12
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	12
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	12
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	12
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	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
Familial hypertrophic cardiomyopathy associated with TBX1 variation	12
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
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	11
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	11
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant	11
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	11
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	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
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	11
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	11
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
Editorial Board	10
Editorial Board	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
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	9
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	9
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	9

MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Challenges in variant interpretation in prenatal exome sequencing	9
Editorial Board	9
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	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
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	9
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	9
NOTCH2 related disorders: Description and review of the fetal presentation	8
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	8
Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	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
Congenital heart defects in the recurrent 2q13 deletion syndrome	8
Cancer in 22q11.2 deletion syndrome: A case report and literature review	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
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	8
Aminoacyl-tRNA synthetase: A ‘semiotic enzyme’	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	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
Demystifying gene(tic) therapies	8
From biology to personalized medicine: Recent knowledge in osteosarcoma	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Associated anomalies in anophthalmia and microphthalmia	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	7
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	7
Life span care for patients with skeletal dysplasia: A roadmap	7
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
French recommendations on multi-gene panel testing in renal cell carcinoma	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	7
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study	7
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	7
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	7
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	6
Editorial Board	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	6
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	6
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study	6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	6
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	6
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III	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
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	6
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	6
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	6
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
SRD5A3-CDG: Twins with an intragenic tandem duplication	6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	6
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	5
Familial inheritance of 14q terminal deletion syndrome and review of the literature	5
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome	5
Penetrance, variable expressivity and monogenic neurodevelopmental disorders	5
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity	5
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs	5
Consensus recommendations on lymphedema in Phelan-McDermid syndrome	5
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study	5
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome	5

An European overview of genetic counselling supervision provision	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
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	5
Editorial Board	5
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1	5
SMAD4 loss-of-function mutation predisposes to congenital heart disease	5
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia	5
Pachydysostosis of the fibula in a case of familial adenomatous polyposis	5
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant	5
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies	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
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	5
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome	5
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature	5
An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank	5
LSM1 is the new candidate gene for neurodevelopmental disorder	5
Mosaicism in Hartsfield syndrome	5
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data	5
Editorial Board	5
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	5
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study	5
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
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay	4
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients	4
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report	4
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD	4
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	4
Variable expressivity of a transmitted pathogenic KAT6B variant	4
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome	4
Editorial Board	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
Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome	4
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	4
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	4
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	4
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	4
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns	4
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	4
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	4
Editorial Board	4
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape	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
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 p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient	4
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	4
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review	4
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	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
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	4
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?	4
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes	4
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism	4
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13	4
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome	4
Access to social services for undiagnosed rare disease patients in France: A pilot study	4
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?	4
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience	4
Editorial Board	4
Are NONO variants linked to congenital heart disease? Patient reports and review	4
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan	4
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS	4
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection	4
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients	3
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal	3
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia	3
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness	3
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature	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
Challenges of preconception genetic testing in France: A qualitative study	3
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions	3
Editorial Board	3
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation	3
Digital clubbing without hypoxia for lysinuric protein intolerance	3
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect	3
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant	3
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	3
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	3
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review	3
Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis	3
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis	3
The VASCERN European Reference Network: An overview	3
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory	3
A novel splicing variant in MICAL-1 gene is associated with epilepsy	3
A family with an atypical presentation of TBX3-related disorder	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
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review	3
Fanconi-like anemia related to a FANCM mutation	3
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature	3
Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population	3
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants	3
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	3