European Journal of Medical Genetics

Article	Citations
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	53
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome	39
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome	35
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	33
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	30
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters	24
Molecular genetic characterization of Congolese patients with oculocutaneous albinism	23
Editorial Board	23
Phenotypic variability in a family with an inherited KAT6A frameshift variant	20
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus	18
A family with an atypical presentation of TBX3-related disorder	18
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	16
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	16
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins	15
Editorial Board	15
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	15
Disclosure of genetic risk in the family: A survey of the Flemish general population	15
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	14
A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis	14
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	14
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	14
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	13
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists	13
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	13
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	13

Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years	13
Challenges in variant interpretation in prenatal exome sequencing	13
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	13
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients	12
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	12
Editorial Board	12
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	12
TRIT1 deficiency: Two novel patients with four novel variants	12
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	11
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines	11
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	11
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	11
Editorial Board	11
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity	11
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	11
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)	11
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant	11
Cernunnos deficiency: Further delineation in 5 Egyptian patients	11
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	11
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	10
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force	10
The Angelman Syndrome Online Registry – A multilingual approach to support global research	10
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood	10
Clinical and molecular features of four families with CLDN10-related HELIX syndrome	10
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	10
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia	10
Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract	10
A bibliometric overview of craniosynostosis research development	10
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	10
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	10
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	10
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	10
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
Somatic mosaics in hereditary tumor predisposition syndromes	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Attitudes towards disclosure of familial genetic risk in a Mediterranean island population – A survey of the Maltese population	9
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome	9
Sex-linked genetic mechanisms and atrial fibrillation risk	9
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	9
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect	9
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	9
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	9
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes	9
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND	9
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	9
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	9
Editorial Board	8
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family	8

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	8
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?	8
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
Editorial Board	8
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review	8
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	8
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation	8
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease	8
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature	8
Cancer predisposition and germline CTNNA1 variants	8
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	8
A rare case of an NLRP12-associated autoinflammatory disease	8
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	8
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review	8
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal	8
Psychological predictors of cancer patients' and their relatives’ attitudes towards the return of genomic sequencing results	8
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	8
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele	8
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia	8
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	8
Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment	8
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay	7
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome	7
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	7
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	7
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	7
Editorial Board	7
Editorial Board	7
Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant	7
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	7
Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1	7
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	7
Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects	7
Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015)	7
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples	7
Editorial Board	7
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1	7
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome	7
Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants	7
Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report	7
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?	7
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range	7
A novel ARX loss of function variant in female monozygotic twins is associated with chorea	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review	6
Associated anomalies in cases with achondroplasia	6
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions	6
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	6
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection	6
First reports of fetal SMARCC1 related hydrocephalus	6
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	6
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)	6
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis	6
From biology to personalized medicine: Recent knowledge in osteosarcoma	6
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	6
Associated anomalies in anophthalmia and microphthalmia	6
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	6
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	6
Alkaptonuria in Russia: mutational spectrum and novel variants	6
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	6
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies	6
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	6
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	6
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	6
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature	6
Genetic causes of rare and common epilepsies: What should the epileptologist know?	6
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature	6
Cancer in 22q11.2 deletion syndrome: A case report and literature review	6
Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth – Association with a homozygous 2bp-insertion in LTBP2?	6
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	5
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas	5
Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6	5
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?	5
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort	5
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	5
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory	5
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	5

DPF2-related Coffin-Siris syndrome type 7 in two generations	5
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	5
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	5
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	5
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	5
Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review	5
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant	5
Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive geno	5
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema	5
A novel splicing variant in MICAL-1 gene is associated with epilepsy	5
Diagnostic yield of exome sequencing in congenital vertical talus	5
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	5
Lessons learned from drug trials in neurofibromatosis: A systematic review	5
SOX17 loss-of-function variation underlying familial congenital heart disease	5
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	5
Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study	5
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis	5
Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada	5
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation	5
Demystifying gene(tic) therapies	5
Congenital heart defects in the recurrent 2q13 deletion syndrome	5
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	5
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum	5
Digital clubbing without hypoxia for lysinuric protein intolerance	5
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	5
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	5
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	5
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings	5
Resolving fetal hydrops – A rare entity	5
Jansen de Vries syndrome: Report of four new patients and review of the literature	5
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype	5
ATP7B variant spectrum in a French pediatric Wilson disease cohort	5
The genetic architecture of primary biliary cholangitis	5
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder	5
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations	5
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significan	5