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
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
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins	15
Editorial Board	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
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
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
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
NOTCH2 related disorders: Description and review of the fetal presentation	8
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	8
Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family	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
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
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
Cancer predisposition and germline CTNNA1 variants	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
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
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	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
Editorial Board	8
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	8
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
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
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
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
The genetic architecture of primary biliary cholangitis	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
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder	5
A novel splicing variant in MICAL-1 gene is associated with epilepsy	5
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations	5
Diagnostic yield of exome sequencing in congenital vertical talus	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
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	5

Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	5
SOX17 loss-of-function variation underlying familial congenital heart disease	5
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort	5
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory	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
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum	5
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	5
Digital clubbing without hypoxia for lysinuric protein intolerance	5
Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review	5
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	5
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant	5
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	5
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema	5
Resolving fetal hydrops – A rare entity	5
Lessons learned from drug trials in neurofibromatosis: A systematic review	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
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas	5
Demystifying gene(tic) therapies	5
Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6	5
Congenital heart defects in the recurrent 2q13 deletion syndrome	5
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?	5
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	5
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	5
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	5
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	5
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings	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