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
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe	32
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care	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
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
Clinical and genetic evaluation of Danish patients with pycnodysostosis	17
NGLY1 deficiency: Novel variants and literature review	16
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
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines	15
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
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
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
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
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
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
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
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
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
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
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

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
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
Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting	9
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
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
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
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
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
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
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness	6
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	6
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	6
Fanconi-like anemia related to a FANCM mutation	6
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
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing	6
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia	6
Consensus recommendations on sleeping problems in Phelan-McDermid syndrome	5
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions	5
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes	5
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum	5
Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience	5
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	5
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association	5
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome	5
Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant	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
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome	5
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	5
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review	5
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7	5
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo	5
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient	5
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	5
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”	5
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India	5
ATP7B variant spectrum in a French pediatric Wilson disease cohort	5
Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic	5
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort	5
Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1	5
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?	5
SRD5A3-CDG: Twins with an intragenic tandem duplication	5
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings	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
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome	5
Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas	5
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis	5
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2	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
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up	5
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome	5
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant	5
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics	5
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder	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
Lessons learned from drug trials in neurofibromatosis: A systematic review	5
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2	5
Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015)	5
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II	5
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis	5
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy	5
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	5
Genetic findings in patients with primary fibrotic atrial cardiomyopathy	5
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants	5
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting	5
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants	5
Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions	5
Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus	4
Challenges in variant interpretation in prenatal exome sequencing	4
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency	4
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1	4
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease	4
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia	4
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies	4
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway	4
Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome	4
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	4
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins	4
‘More than a box of puzzles’: Understanding the parental experience of having a child with a rare genetic condition"	4
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex	4
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability	4
Considerations for radiotherapy in Bloom Syndrome: A case series	4
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly	4
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor	4
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity	4
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?	4
Molecular characterization of temple syndrome families with 14q32 epimutations	4
3M syndrome: A Tunisian seven-cases series	4
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia	4
Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report	4
A novel homozygous KY variant causing a complex neurological disorder	4
ANO3 and early-onset dyskinetic encephalopathy	4
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency	4
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	4