European Journal of Medical Genetics

Article	Citations
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong	41
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance	29
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	28
Biallelic variants in four genes underlying recessive osteogenesis imperfecta	26
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China	24
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe	23
Natural human chimeras: A review	23
Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer	23
The genetic architecture of primary biliary cholangitis	20
Cancer predisposition and germline CTNNA1 variants	20
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas	20
A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center	20
Genetics of developmental dysplasia of the hip	19
Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome	19
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype	18
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder	17
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	17
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19	16
Polycystic liver disease genes: Practical considerations for genetic testing	16
NGLY1 deficiency: Novel variants and literature review	16
Clinical and genetic evaluation of Danish patients with pycnodysostosis	16
Clues and challenges in the diagnosis of intermittent maple syrup urine disease	16
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation	15
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing	15
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders	14

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition	14
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains	13
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3	13
Genetic essentialism: The mediating role of essentialist biases on the relationship between genetic knowledge and the interpretations of genetic information	13
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4	13
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	13
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity	13
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	13
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood	12
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)	12
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family	12
ISL1 loss-of-function variation causes familial atrial fibrillation	12
Phenotype of ST3GAL3 deficient patients: A case and review of the literature	12
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches	12
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature	12
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder	12
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	12
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes	12
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies	12
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines	12
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	11
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	11
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review	11
SOX17 loss-of-function variation underlying familial congenital heart disease	11
Further evidence of GABRA4 and TOP3B as autism susceptibility genes	11
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3	11
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment	11
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management	11
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?	11
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	11
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients	11
Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review	11
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	11
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature	10
Altered level of plasma exosomes in patients with Gaucher disease	10
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del	10
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy	10
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping	10
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD)	10
Mosaicism in ASXL3-related syndrome: Description of five patients from three families	10
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	10
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing	10
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	10
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort	10
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene	10
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients	10
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	10
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	10
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association	10
Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome	10

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	10
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome	9
GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome	9
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome	9
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation	9
Targeted re-sequencing in pediatric and perinatal stroke	9
BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case	9
Congenital heart defects in the recurrent 2q13 deletion syndrome	9
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2	9
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report	9
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy	9
Williams-Beuren Syndrome and celiac disease: A real association?	9
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis	9
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation	8
First evidence of involvement of TBC1D25 in causing human male infertility	8
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome	8
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome	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
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review	8
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	8
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	8
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients	8
Somatic mosaics in hereditary tumor predisposition syndromes	8
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	8
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes	8
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants	8
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants	8
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report	8
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals	8
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic	8
A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2	8
Retinoblastoma: From genes to patient care	8
Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis	8
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation	8
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies	8
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	7
Genetic and clinical profile of patients with hypophosphatemic rickets	7
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome	7
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome	7
The external phenotype of aging	7
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature	7
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	7
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants	7
The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes	7
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	7
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)	7
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency	7
EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency	7
Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease	7
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness	7
Impact of direct-to-consumer genetic testing on Australian clinical genetics services	7
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation	7
A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy	7
A bibliometric overview of craniosynostosis research development	7
Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting	7
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum	7
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases	7
Various phenotypes of disease associated with mutated DGKE gene	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	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
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2	7
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability	7
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	7
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing	7
Disclosing genetic information to family members without consent: Five Australian case studies	7
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome	7
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)	6
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort	6
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism	6
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90	6
Novel EDAR mutation in tooth agenesis and variable associated features	6
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	6
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease	6
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes	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
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome	6
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	6

Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations	6
Phenotype of COL3A1/COL5A2 deletion patients	6
Navigating a world of genes: A conceptual analysis of gene fetishism, geneticization, genetic exceptionalism and genetic essentialism	6
Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features	6
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature	6
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	6
Sex-linked genetic mechanisms and atrial fibrillation risk	6
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum	6
Mandibuloacral dysplasia type A in five tunisian patients	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
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature	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
Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect	6
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation	6
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	6
Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions	6
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS	6
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child	6
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	6
A rare case of an NLRP12-associated autoinflammatory disease	6
STAC3 related congenital myopathy: A case series of seven Comorian patients	6
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome	6
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings	6
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome	6
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients	6
Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience	5
Lessons learned from drug trials in neurofibromatosis: A systematic review	5
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel	5
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8	5
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2	5
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort	5
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype	5
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review	5
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia	5
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	5
Congenital hyperinsulinism due to mutations in HNF1A	5
Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative	5
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?	5
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association	5
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family	5
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	5
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome	5
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India	5
Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype	5
A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome	5
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?	5
Fanconi-like anemia related to a FANCM mutation	5
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	5
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	5
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations	5
Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences	5
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome	5
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia	5
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders	5
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	5
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region	5
Concurrent pathogenic variations in patients with hereditary cancer syndromes	5
Growth charts in Cockayne syndrome type 1 and type 2	5
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome	5
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant	5
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review	5
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder	5
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1	5
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	5
Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1	5
ATP7B variant spectrum in a French pediatric Wilson disease cohort	5
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	5
Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015)	5
Genetics in primary congenital glaucoma: Implications in disease management and counseling	5
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature	5
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	5
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome	5
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	5
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study	5
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly	5
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation	5
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	5
Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction	5
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46	5