Journal of Medical Genetics

Article	Citations
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis	60
Assessing performance of pathogenicity predictors using clinically relevant variant datasets	55
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group	55
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics	44
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis	43
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)	38
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	37
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors	32
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency	30
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction	28
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	28
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	28
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects	28
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease	26
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations	26
Population-based targeted sequencing of 54 candidate genes identifiesPALB2as a susceptibility gene for high-grade serous ovarian cancer	26
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population	26
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence	24
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita	24
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	24
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations	24
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH	23
Axenfeld-Rieger syndrome: more than meets the eye	23
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer	23
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants	22

SETD1B-associated neurodevelopmental disorder	22
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy	22
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease	21
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	21
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare	20
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients	20
Analysis of genotype–phenotype correlations in PAX6-associated aniridia	20
Prenatal clinical manifestations in individuals with COL4A1/2 variants	20
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology	20
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders	20
Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia	20
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy	19
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality	19
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population	18
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	18
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes	18
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice	18
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum	18
Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait	18
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	18
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era	18
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients	18
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome	17
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1	17
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations	17
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	16
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation	16
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation	16
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant	16
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis	15
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors	15
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene	15
Homozygous variants in SYCP2L cause premature ovarian insufficiency	15
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy	14
Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19	14
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy	14
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences	14
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study	14
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases	14
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study	13
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository	13
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa	13
Adult phenotype of KCNQ2 encephalopathy	13
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists	13
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes	13
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders	13
Assessment of mismatch repair deficiency in ovarian cancer	13
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression	13
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants	13
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases	13

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing	13
Patient-facing digital tools for delivering genetic services: a systematic review	12
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	12
Human X chromosome exome sequencing identifiesBCORL1as contributor to spermatogenesis	12
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure	12
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants	12
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	12
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish co	12
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2	12
Defining the phenotypical spectrum associated with variants in TUBB2A	12
Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability	12
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	12
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB	12
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability	12
BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia	11
The role of single-cell genomics in human genetics	11
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy	11
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers	11
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel	11
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss	11
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants	11
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	11
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy	11
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting	11
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project	10
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa	10
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer	10
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis	10
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features	10
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy	10
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment	10
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population	10
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline	10
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingFOXP2	10
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome	10
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome	10
Methodology in phenome-wide association studies: a systematic review	10
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents	10
Prevalence of Fabry disease-causing variants in the UK Biobank	10
Congenital sensorineural hearing loss as the initial presentation ofPTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms	10
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis	10
Sporadic vestibular schwannoma: a molecular testing summary	10
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing	9
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state	9
Dysfunction of VIPR2 leads to myopia in humans and mice	9
Exome sequencing analysis identifies frequent oligogenic involvement andFLNBvariants in adolescent idiopathic scoliosis	9
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes	9
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	9
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality	9
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports	9
Homozygous variants inAKAP3induce asthenoteratozoospermia and male infertility	9
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting	9
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	9
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits	9
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2	9
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive	9
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum	9
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases	9
Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy	9
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis	9
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia	9
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1	8
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population	8
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes	8
Genetic and functional insights into CDA-I prevalence and pathogenesis	8
Treatment switch in Fabry disease- a matter of dose?	8
Convergent lines of evidence support NOTCH4 as a schizophrenia risk gene	8
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	8
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus	8
Rare and de novo duplications containing SHOX in clubfoot	8
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	8
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	8
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)	8
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy	8
Blood functional assay for rapid clinical interpretation of germline TP53 variants	8
FSIP2plays a role in the acrosome development during spermiogenesis	8
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development	8
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function	8

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts	8
CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	8
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	7
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau	7
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies	7
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics	7
Determinants of quality of life in Rett syndrome: new findings on associations with genotype	7
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability	7
Absence of SCAPER causes male infertility in humans andDrosophilaby modulating microtubule dynamics during meiosis	7
Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia	7
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review	7
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	7
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers	7
Activation of cryptic donor splice sites by non-coding and codingPAX6variants contributes to congenital aniridia	7
Dominant negative mutation in oxalate transporterSLC26A6associated with enteric hyperoxaluria and nephrolithiasis	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot	7
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms	7
15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection	7
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events	6
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome	6
Deep exploration of aCDKN1Cmutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay	6
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features	6
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome	6
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	6
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study	6
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	6
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	6
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	6
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer	6
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals	6
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy	6
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma	6
Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors	6
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes	6
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome	6
Improving the clinical interpretation of missense variants in X linked genes using structural analysis	6
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?	6
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics	6
Variable skeletal phenotypes associated with biallelic variants in PRKG2	6
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium	6
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity	6
Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development	6
Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent	5
Patient-derived cellular models of primary ciliopathies	5
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	5
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma	5
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition	5
A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I	5
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency	5
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	5
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant inGNPNAT1	5
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism	5
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?	5
Arterial complications in classical Ehlers-Danlos syndrome: a case series	5
Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1	5
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma	5
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome	5
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	5
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	5
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	5
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability	5
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	5
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders	5
Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition	5
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study	5
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	5
GLRA2gene mutations cause high myopia in humans and mice	5
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome	5
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1	5
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series	5
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes	5
Identifying the molecular drivers of ALS-implicated missense mutations	5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	5
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus	5
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy	5
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	5
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability	4
Genotype-phenotype correlation in clubfoot (talipes equinovarus)	4
Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)	4
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome	4
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	4
Decision-making and regret in patients with germlineCDH1variants undergoing prophylactic total gastrectomy	4
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	4
Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach	4
Bi-allelicTTC5variants cause delayed developmental milestones and intellectual disability	4
Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group	4
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy	4
Gene fusions in tumourigenesis with particular reference to ovarian cancer	4
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	4
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome	4
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	4