European Journal of Medical Genetics

Article	Citations
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes	48
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong	41
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome	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	25
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy	24
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China	23
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance	23
Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer	22
Natural human chimeras: A review	22
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe	21
Cancer predisposition and germline CTNNA1 variants	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
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas	19
Genetics of developmental dysplasia of the hip	18
The genetic architecture of primary biliary cholangitis	18
Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome	18
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	17
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability	16
Clues and challenges in the diagnosis of intermittent maple syrup urine disease	16
Cancer screening in adults with down syndrome, a proposal	16
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype	16
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19	16
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder	16
NGLY1 deficiency: Novel variants and literature review	15

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome	15
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing	15
Identification and functional characterization of KLF5 as a novel disease gene responsible for familial dilated cardiomyopathy	15
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features	15
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders	14
Polycystic liver disease genes: Practical considerations for genetic testing	14
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition	14
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation	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	13
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review	13
A review of the legislation of direct-to-consumer genetic testing in EU member states	13
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains	13
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches	12
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene	12
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?	12
Clinical and genetic evaluation of Danish patients with pycnodysostosis	12
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3	12
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4	12
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies	12
ISL1 loss-of-function variation causes familial atrial fibrillation	12
Phenotype of ST3GAL3 deficient patients: A case and review of the literature	11
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities	11
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality	11
Is height important for quality of life in children with skeletal dysplasias?	11
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?	11
Genetic essentialism: The mediating role of essentialist biases on the relationship between genetic knowledge and the interpretations of genetic information	11
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
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3	11
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes	11
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family	11
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review	11
Further evidence of GABRA4 and TOP3B as autism susceptibility genes	11
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood	11
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)	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
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes	11
SOX17 loss-of-function variation underlying familial congenital heart disease	11
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder	11
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists	10
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome	10
21-Hydroxylase deficiency: Mutational spectrum and Genotype–Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification	10
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature	10
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1	10
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping	10
Genetic aspects of adult and pediatric autoimmune hepatitis: A concise review	10
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene	10
Altered level of plasma exosomes in patients with Gaucher disease	10
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity	10
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?	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
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort	10
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience	10
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients	10
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes	10
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del	10
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome	10
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy	10
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management	10
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance	10
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity	10
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines	10
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy	9
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome	9
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients	9
Congenital heart defects in the recurrent 2q13 deletion syndrome	9
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report	9
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy	9
BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case	9
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis	9
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature	9
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability	9
GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome	9
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	9
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD)	8
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers	8
Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis	8
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome	8
Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib	8
Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability	8
Targeted re-sequencing in pediatric and perinatal stroke	8
The spectrum of Lynch syndrome-associated germ-line mutations in Russia	8
Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease	8
A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome	8
A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2	8
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2	8
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion	8
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum	8
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants	8
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review	8
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant	8
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services	8
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum	8
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome	8
Somatic mosaics in hereditary tumor predisposition syndromes	8
Mosaicism in ASXL3-related syndrome: Description of five patients from three families	8
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes	8
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing	8
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome	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
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
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2	7
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic	7
Retinoblastoma: From genes to patient care	7
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results	7
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation	7
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum	7
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome	7
Various phenotypes of disease associated with mutated DGKE gene	7
Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support	7
Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient	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
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
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome	7
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings	7
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder	7
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome	7
Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting	7
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation	7
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies	7
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	7
Williams-Beuren Syndrome and celiac disease: A real association?	7
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A	7
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation	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
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients	7

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation	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
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation	7
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants	7
Placental mosaicism in the era of chromosomal microarrays	7
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome	7
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome	7
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome	7
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome	7
Impact of direct-to-consumer genetic testing on Australian clinical genetics services	7
Disclosing genetic information to family members without consent: Five Australian case studies	6
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature	6
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations	6
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)	6
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature	6
Genetic and clinical profile of patients with hypophosphatemic rickets	6
Novel missense variant in TTN cosegregating with familial atrioventricular block	6
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism	6
A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy	6
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child	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
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X	6
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases	6
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations	6
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings	6
Consensus recommendations on mental health issues in Phelan-McDermid syndrome	6
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation	6
EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency	6
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey	6
Mild macrocytosis in Williams-Beuren syndrome	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
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia	6
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4	6
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease	6
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis	6
De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature	6
A bibliometric overview of craniosynostosis research development	6
Phenotype of COL3A1/COL5A2 deletion patients	6
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation	6
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)	6
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency	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
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome	6
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	6
Novel EDAR mutation in tooth agenesis and variable associated features	6
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability	5
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome	5
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8	5
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome	5
Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015)	5
Metabolic profiling of Costello syndrome: Insights from a single-center cohort	5
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism	5
A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic	5
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review	5
Congenital hyperinsulinism due to mutations in HNF1A	5
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	5
Sex-linked genetic mechanisms and atrial fibrillation risk	5
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations	5
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome	5
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease	5
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant	5
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22	5
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort	5
Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features	5
ATP7B variant spectrum in a French pediatric Wilson disease cohort	5
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association	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
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46	5
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature	5
Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort	5
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients	5
A rare case of an NLRP12-associated autoinflammatory disease	5
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family	5
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	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
Navigating a world of genes: A conceptual analysis of gene fetishism, geneticization, genetic exceptionalism and genetic essentialism	5
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome	5
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations	5
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature	5
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations	5
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder	5
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature	5
Lessons learned from drug trials in neurofibromatosis: A systematic review	5
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region	5
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome	5
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India	5
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability	5
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome	5
The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature	5
Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect	5
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome	5
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome	5