European Journal of Medical Genetics

Article	Citations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	68
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	44
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	41
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	37
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	33
Somatic mosaics in hereditary tumor predisposition syndromes	32
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	27
Cernunnos deficiency: Further delineation in 5 Egyptian patients	27
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	26
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	25
A novel RORA genetic variant associated with early-onset obesity and insomnia	25
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	24
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	23
Sex-linked genetic mechanisms and atrial fibrillation risk	20
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	18
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	18
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	18
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	17
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	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
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	16
Jansen de Vries syndrome: Report of four new patients and review of the literature	16
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	16
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	16
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	16

Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	16
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	16
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	15
The non-coding genome in Autism Spectrum Disorders	15
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	15
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	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	14
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	14
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	14
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	14
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	14
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	14
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	13
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders	13
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	13
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	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
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	12
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	12
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants	12
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	12
Hydranencephaly in CENPJ-related Seckel syndrome	12
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	12
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	12
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	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
ITGB4-Related pyloric atresia without epidermolysis in two siblings	11
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	11
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease	11
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	11
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	11
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	11
Concurrent pathogenic variations in patients with hereditary cancer syndromes	11
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	11
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	11
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	10
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	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
Editorial Board	10
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
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	10
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex	10
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	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
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	10
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	10
Editorial Board	10
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	10
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	9
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	9
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	9
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	9
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	9
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	9
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Editorial Board	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
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	9
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	9
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
Demystifying gene(tic) therapies	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	8
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	8
Cancer in 22q11.2 deletion syndrome: A case report and literature review	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
Challenges in variant interpretation in prenatal exome sequencing	8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	8
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	8
From biology to personalized medicine: Recent knowledge in osteosarcoma	8
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	8
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	8
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	8
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	8
Congenital heart defects in the recurrent 2q13 deletion syndrome	8
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	8
NOTCH2 related disorders: Description and review of the fetal presentation	8
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	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
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	7
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	7
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	7
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Associated anomalies in anophthalmia and microphthalmia	7
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	7
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	7
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	7
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case	7
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease	7
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	7
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	7
Life span care for patients with skeletal dysplasia: A roadmap	7
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	7
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	6
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	6
Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature	6
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation	6
Editorial Board	6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	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
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	6
Editorial Board	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	6

A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation	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
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
Editorial Board	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data	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
Editorial Board	5
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	5
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	5
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1	5
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome	5
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease	5
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies	5
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia	5
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	5
Editorial Board	5
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	5
An European overview of genetic counselling supervision provision	5
Consensus recommendations on lymphedema in Phelan-McDermid syndrome	5
Familial inheritance of 14q terminal deletion syndrome and review of the literature	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
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
Secondary physical features in children with FASD	5
LSM1 is the new candidate gene for neurodevelopmental disorder	5
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant	5
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity	5
Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64(10) (2021) 104305]	5
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	5
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	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
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	5
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	5
SMAD4 loss-of-function mutation predisposes to congenital heart disease	5
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	5
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome	5
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs	5
Mosaicism in Hartsfield syndrome	5
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study	5
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature	5
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome	5
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study	5
SRD5A3-CDG: Twins with an intragenic tandem duplication	5
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS	4
Editorial Board	4
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review	4
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	4
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?	4
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay	4
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings	4
Lessons learned from drug trials in neurofibromatosis: A systematic review	4
Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome	4
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	4
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	4
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	4
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns	4
Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1	4
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome	4
Editorial Board	4
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	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
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	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
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient	4
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	4
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients	4
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum	4
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	4
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan	4
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”	4
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13	4
Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case	4
Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome	4
Editorial Board	4
Editorial Board	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
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	4
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection	4
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families	4
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	4
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	4
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	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
Access to social services for undiagnosed rare disease patients in France: A pilot study	4
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	3
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	3
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect	3
Fanconi-like anemia related to a FANCM mutation	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