European Journal of Medical Genetics

Article	Citations
Somatic mosaics in hereditary tumor predisposition syndromes	55
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	39
Sex-linked genetic mechanisms and atrial fibrillation risk	35
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	33
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	30
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	27
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	24
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	23
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	23
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	22
Cernunnos deficiency: Further delineation in 5 Egyptian patients	20
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	18
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	16
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	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	15
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis	15
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	15
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	15
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	15
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	15
Jansen de Vries syndrome: Report of four new patients and review of the literature	14
Editorial Board	14
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	14
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	14

Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	14
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	14
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	13
The non-coding genome in Autism Spectrum Disorders	13
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	13
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome	13
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model	13
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis	13
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome	13
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome	13
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	13
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine	13
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review	12
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant	12
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data	12
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	12
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	12
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome	11
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services	11
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	11
Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE	11
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	11
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants	11
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	11
Hydranencephaly in CENPJ-related Seckel syndrome	11
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases	11
Application of long read sequencing in rare diseases: The longer, the better?	11
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex	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
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study	10
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case	10
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature	10
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease	10
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	10
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III	10
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	10
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	10
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia	10
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature	10
ITGB4-Related pyloric atresia without epidermolysis in two siblings	10
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	10
Concurrent pathogenic variations in patients with hereditary cancer syndromes	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
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family	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
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	9
Editorial Board	9

Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships	9
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant	9
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia	9
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	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
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation	8
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis	8
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	8
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	8
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets	8
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	8
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism	8
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports	8
Recurrent MECR R258W causes adult-onset optic atrophy: A case report	8
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	8
Challenges in variant interpretation in prenatal exome sequencing	8
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder	8
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment	8
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	8
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion	8
Editorial Board	8
Advances in genetic, epigenetic and environmental aspects of rare liver diseases	8
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	8
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients	8
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype	8
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	8
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	7
NOTCH2 related disorders: Description and review of the fetal presentation	7
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	7
Associated anomalies in anophthalmia and microphthalmia	7
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria	7
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability	7
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome	7
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups	7
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China	7
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy	7
Editorial Board	7
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy	7
Cancer in 22q11.2 deletion syndrome: A case report and literature review	7
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case	7
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	7
From biology to personalized medicine: Recent knowledge in osteosarcoma	7
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	7
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	7
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy	7
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia	7
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	7
Congenital heart defects in the recurrent 2q13 deletion syndrome	7
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities	7
A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonada	7
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review	7
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype	7
Demystifying gene(tic) therapies	7
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	6
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	6
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	6
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK	6
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants	6
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation	6
Editorial Board	6
Editorial Board	6
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	6
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	6
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	6
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	6
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?	6
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis	6
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene	6
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant	6
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss	6
Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	6
Editorial Board	6
Life span care for patients with skeletal dysplasia: A roadmap	6
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease	6
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	6
Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia	6
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	6
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	6
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes	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

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