European Journal of Medical Genetics

Article	Citations
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong	42
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance	35
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	32
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe	32
Cancer predisposition and germline CTNNA1 variants	26
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas	23
The genetic architecture of primary biliary cholangitis	22
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	20
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders	19
Clinical and genetic evaluation of Danish patients with pycnodysostosis	17
Polycystic liver disease genes: Practical considerations for genetic testing	17
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder	17
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes	17
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	16
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?	16
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19	16
NGLY1 deficiency: Novel variants and literature review	16
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	15
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition	15
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines	15
Phenotype of ST3GAL3 deficient patients: A case and review of the literature	14
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	14
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	14
Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project	14
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)	14

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder	14
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches	13
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family	13
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	13
National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract	13
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies	13
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management	13
ISL1 loss-of-function variation causes familial atrial fibrillation	13
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4	13
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients	13
SOX17 loss-of-function variation underlying familial congenital heart disease	13
Genetic essentialism: The mediating role of essentialist biases on the relationship between genetic knowledge and the interpretations of genetic information	13
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing	12
GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome	12
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	12
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation	12
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy	12
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome	12
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and di	12
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature	12
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review	12
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature	12
Altered level of plasma exosomes in patients with Gaucher disease	11
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy	11
Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review	11
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	11
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis	11
Congenital heart defects in the recurrent 2q13 deletion syndrome	11
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN	11
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	11
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences	11
Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions	10
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort	10
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic	10
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients	10
Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis	10
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	10
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	10
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals	10
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	10
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients	10
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome	10
Retinoblastoma: From genes to patient care	10
Targeted re-sequencing in pediatric and perinatal stroke	10
Genetic and clinical profile of patients with hypophosphatemic rickets	10
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation	10
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome	10
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	10
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report	10
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	10

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	9
Growth charts in Cockayne syndrome type 1 and type 2	9
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome	9
First evidence of involvement of TBC1D25 in causing human male infertility	9
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases	9
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort	9
Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease	9
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation	9
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants	9
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report	9
Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting	9
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	9
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	9
Somatic mosaics in hereditary tumor predisposition syndromes	9
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome	8
Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect	8
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation	8
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	8
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	8
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia	8
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations	8
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum	8
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies	8
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency	8
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations	8
A rare case of an NLRP12-associated autoinflammatory disease	8
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	8
A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy	8
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study	8
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)	8
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	8
EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency	8
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?	8
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes	8
The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes	8
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants	7
STAC3 related congenital myopathy: A case series of seven Comorian patients	7
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia	7
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature	7
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	7
Navigating a world of genes: A conceptual analysis of gene fetishism, geneticization, genetic exceptionalism and genetic essentialism	7
The external phenotype of aging	7
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	7
A bibliometric overview of craniosynostosis research development	7
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1	7
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations	7
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome	7
Concurrent pathogenic variations in patients with hereditary cancer syndromes	7
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation	7
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	7
SMAD4 loss-of-function mutation predisposes to congenital heart disease	7
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes	7
Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative	7
Disclosing genetic information to family members without consent: Five Australian case studies	7
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations	7
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome	7
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	7
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability	7
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease	7
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome	6
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype	6
Genetics in primary congenital glaucoma: Implications in disease management and counseling	6
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	6
Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect	6
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype	6
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth	6
Alkaptonuria in Russia: mutational spectrum and novel variants	6
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia	6
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	6
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing	6
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature	6
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature	6
Mandibuloacral dysplasia type A in five tunisian patients	6
Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences	6
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region	6
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome	6
Phenotype of COL3A1/COL5A2 deletion patients	6
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes	6

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	6
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	6
Sex-linked genetic mechanisms and atrial fibrillation risk	6
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	6
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey	6
Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review	6
Ethical challenges in autism genomics: Recommendations for researchers	6
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders	6
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings	6
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients	6
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly	6
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case	6
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature	6
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia	6
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	6
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness	6
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	6
Fanconi-like anemia related to a FANCM mutation	6