European Journal of Medical Genetics

Article	Citations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	57
Sex-linked genetic mechanisms and atrial fibrillation risk	40
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	35
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	35
Cernunnos deficiency: Further delineation in 5 Egyptian patients	30
Somatic mosaics in hereditary tumor predisposition syndromes	30
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	27
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	24
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	24
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	22
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	22
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	21
Wolcott-Rallison Syndrome – crosstalk between PERK- EIF2A and type II interferon signaling.	18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	18
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	18
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	17
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis	17
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	16
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	16
Editorial Board	15
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	15
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	15
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	15
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	15
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	15

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	15
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	14
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	14
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	14
Jansen de Vries syndrome: Report of four new patients and review of the literature	14
The non-coding genome in Autism Spectrum Disorders	14
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	14
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	13
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	13
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	13
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	13
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	13
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	13
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	13
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	13
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	13
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data	13
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM	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	12
Application of long read sequencing in rare diseases: The longer, the better?	12
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	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
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	12
Concurrent pathogenic variations in patients with hereditary cancer syndromes	12
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	11
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease	11
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	11
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	11
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	11
Hydranencephaly in CENPJ-related Seckel syndrome	11
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	11
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	11
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex	11
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	10
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia	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
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	10
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	10
ITGB4-Related pyloric atresia without epidermolysis in two siblings	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
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	10
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	10
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype	10
Lessons learned from the RE(ACT) conference on medical devices for rare diseases	10
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	10
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	10
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition – An observational study from tertiary neonatal care unit in South India	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
Editorial Board	9

Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	9
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	9
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	9
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	9
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	9
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey	9
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	9
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	9
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	9
Editorial Board	9
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics	9
Imaging in osteogenesis imperfecta: Where we are and where we are going	9
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	8
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	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
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	8
Editorial Board	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
Challenges in variant interpretation in prenatal exome sequencing	8
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	8
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
Associated anomalies in anophthalmia and microphthalmia	8
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	8
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	8
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	8
Editorial Board	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	8
Demystifying gene(tic) therapies	8
Cancer in 22q11.2 deletion syndrome: A case report and literature review	8
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	7
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	7
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	7
NOTCH2 related disorders: Description and review of the fetal presentation	7
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	7
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	7
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	7
Congenital heart defects in the recurrent 2q13 deletion syndrome	7
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	7
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	7
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	7
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
Editorial Board	6
BMP2 is a potential causative gene for isolated dextrocardia situs solitus	6
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case	6
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes	6
Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature	6
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	6
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice	6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	6
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease	6
Editorial Board	6
Editorial Board	6
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III	6
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation	6
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3	6
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	6
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	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
SRD5A3-CDG: Twins with an intragenic tandem duplication	6
Orbital nodular fasciitis in child with biallelic germline RBL2 variant	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
Life span care for patients with skeletal dysplasia: A roadmap	6
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	6
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease	5
Penetrance, variable expressivity and monogenic neurodevelopmental disorders	5
Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64(10) (2021) 104305]	5
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs	5
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	5
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies	5
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	5
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity	5
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	5
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	5
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	5
An European overview of genetic counselling supervision provision	5
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1	5
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study	5
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study	5
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome	5
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	5
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature	5
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region	5
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data	5
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease	5
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome	5
LSM1 is the new candidate gene for neurodevelopmental disorder	5
A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review	5
Pachydysostosis of the fibula in a case of familial adenomatous polyposis	5
Editorial Board	5
Consensus recommendations on lymphedema in Phelan-McDermid syndrome	5
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation	5
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant	5
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	5
Secondary physical features in children with FASD	5
Mosaicism in Hartsfield syndrome	5
RHOA-associated disorder can be non-mosaic	4
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa	4
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	4
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay	4
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome	4
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum	4
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	4
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly	4
Editorial Board	4
SMAD4 loss-of-function mutation predisposes to congenital heart disease	4
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study	4
Editorial Board	4
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?	4
Editorial Board	4
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	4
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns	4
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	4
Lessons learned from drug trials in neurofibromatosis: A systematic review	4
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?	4
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?	4
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	4
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome	4
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome	4
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes	4
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	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
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection	4
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome	4
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384	4
Familial inheritance of 14q terminal deletion syndrome and review of the literature	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
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature	4
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study	4
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	4
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	4
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia	4
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	4
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	4
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan	4
Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population	3
Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents	3
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation	3
Fanconi-like anemia related to a FANCM mutation	3
GRM7-related disorder: five additional patients from three independent families and review of the literature	3
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study	3
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways	3
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients	3
Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype	3
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases	3
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”	3
Challenges and practical solutions for managing secondary genomic findings in primary care	3
Editorial Board	3
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations	3
Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative	3
An intermediate phenotype in IDH related enchondromatosis spectrum	3