Journal of Medical Genetics

Article	Citations
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex	69
A homozygous variant inCHMP3is associated with complex hereditary spastic paraplegia	53
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum	42
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	39
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium	37
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR	35
De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops	34
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	33
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	29
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	29
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	28
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning	27
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	25
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1	25
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	24
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	24
Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review	23
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	22
Further characterisation ofARX-related disorders in females due to inherited or de novo variants	22
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy	19
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	19
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	19
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy	19
Next generation of free? Points to consider when navigating sponsored genetic testing	18
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants	18

Pseudocoloboma-like maculopathy with biallelicRDH12missense mutations	18
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity	18
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)	18
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy	18
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	18
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum	18
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	17
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon	17
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	17
Adult phenotype of KCNQ2 encephalopathy	16
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions	16
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	16
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)	16
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure	16
Congenital mirror movements are associated with defective polymerisation of RAD51	16
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	16
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE st	16
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans	16
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases	15
Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group	15
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia	15
Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis	15
Long-term tumour dormancy in aBRCA1heterozygote	15
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	15
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice	14
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	14
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	14
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	14
Cerebral visual impairment: genetic diagnoses and phenotypic associations	14
Six at Sixty. Commentary on identification of thePTENgene as a major contributor to autism spectrum disorder	13
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	13
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy	13
Clinical and mutational signatures ofCRB1-associated retinopathies: a multicentre study	13
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	13
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant ofTREM2	13
Prevalence of Fabry disease-causing variants in the UK Biobank	13
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study	12
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	12
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2	12
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability	12
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer	12
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	12
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	12
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper	11
Correction: SETD1B-associated neurodevelopmental disorder	11
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	11
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study	10
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing	10
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	10

Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing	10
Population-based analysis ofPOT1variants in a cutaneous melanoma case–control cohort	10
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly	9
Development of a comprehensive approach to adult hereditary cancer testing in Ontario	9
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation	9
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	9
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes	9
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project	9
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome	9
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals	9
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	9
Public willingness to participate in population DNA screening in Australia	9
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study	9
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review	9
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes	9
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30–39 over grade 3 aged 40–49 years?	9
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	9
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality	9
Phenotypical differences ofC9ORF72gene-positive and negative amyotrophic lateral sclerosis: a comparative case series	9
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome	9
Breast cancer risk inNF1-deleted patients	8
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome	8
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts	8
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders	8
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene	8
Clinical and genetic spectrum ofRNF216-related disorder: a new case and literature review	8
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome	8
GOLM1: expanding our understanding of melanoma susceptibility	8
Histones: coming of age in Mendelian genetic disorders	8
Variable skeletal phenotypes associated with biallelic variants in PRKG2	8
MSH3: a confirmed predisposing gene for adenomatous polyposis	7
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa	7
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	7
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	7
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	7
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C	7
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome	7
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability	7
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis	7
Titin copy number variations associated with dominant inherited phenotypes	7
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)	7
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	7
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	7
Germline mutations inWNK2could be associated with serrated polyposis syndrome	7
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	7
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore	7
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	6
PSMD3gene mutations cause pathological myopia	6
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	6
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures	6
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	6
Methodology in phenome-wide association studies: a systematic review	6
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	6
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	6
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	6
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel	6
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data	6
RecurrentBRCA2exon 3 deletion in Assyrian families	6
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	6
Identifying the molecular drivers of ALS-implicated missense mutations	6
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot	6
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer	6
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects	6
WDR45variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females	6
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression	6
Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of PTCH1 in Gorlin-Goltz syndrome	5
Recurrent small deletions inKCNQ1OT1: a challenge for pathogenicity prediction	5
Systems approach to enhance Lynch syndrome diagnosis through tumour testing	5
Foecal incontinence disorders in Wolfram syndrome: a new manifestation	5
TFAP2Eis implicated in central nervous system, orofacial and maxillofacial anomalies	5
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India	5
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	5
Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort	5
Axenfeld-Rieger syndrome: more than meets the eye	5
HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element	5
Predicting the likelihood ofBRCA1/2germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals	5
Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy	5
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	5
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis	5

GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	5
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	5
De novo variants inKCNJ3are associated with early-onset epilepsy	5
Biallelic truncating variants inVGLL2cause syngnathia in humans	5
A tandem duplication of exon 42 of theDMDgene is a likely benign variant	5
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	5
Exploring the association between congenital vertebral malformations and neural tube defects	5
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	4
Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)	4
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	4
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	4
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy	4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	4
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers	4
The role of single-cell genomics in human genetics	4
NovelPOLEmutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus	4
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	4
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors	4
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	4
Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas	4
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	4
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	4
Risk-reducing decisions regarding germlineBRCApathogenic variant: focusing on the timing of genetic testing and RRSO	4
Consolidating the association of biallelicMAPKAPK5pathogenic variants with a distinct syndromic neurodevelopmental disorder	4
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics	4
ZNF142mutation causes sex-dependent neurologic disorder	4
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome	4
Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia	4
Genotype-phenotype correlation in clubfoot (talipes equinovarus)	4
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer	4
Contribution of large genomic rearrangements inPALB2to familial breast cancer: implications for genetic testing	4
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	4
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis	3
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function	3
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy	3
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	3
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	3
Novel mutation leading to splice donor loss in a conserved site ofDMDgene causes Duchenne muscular dystrophy with cryptorchidism	3
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	3
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer	3
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita	3
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	3
Homozygous truncating variant inMAN2A2causes a novel congenital disorder of glycosylation with neurological involvement	3
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	3
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	3
Homozygous variant inTKFCabolishing triokinase activities is associated with isolated immunodeficiency	3
POT1and multiple primary melanomas: the dermatological phenotype	3
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes	3
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGe	3
Carrier testing for partners ofMUTYHvariant carriers: UK Cancer Genetics Group recommendations	3
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	3
Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest	3
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	3
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation	3
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants	3
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes	3
Characterising heart rhythm abnormalities associated with Xp22.31 deletion	3
Response to: ‘Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank’ by Mølleret al	3
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China	3
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	3
Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services	3
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	3
SMARCA4mutation causes human otosclerosis and a similar phenotype in mice	3
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease	3
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum	3
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway	3
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	3
Psychopathology in mothers of children with pathogenic Copy Number Variants	3
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) onAPCI1307K and cancer risk	3
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations	3
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department	3
NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study	3
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	2
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?	2
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project	2
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus	2
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability	2
Recurrent 17q12 microduplications contribute to renal disease but not diabetes	2
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia	2
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	2
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation	2
FSIP2plays a role in the acrosome development during spermiogenesis	2
BiallelicNPR1loss of function variants are responsible for neonatal systemic hypertension	2
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	2
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	2
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma	2
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	2
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype	2
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	2
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	2
Recontact to return new or updatedPALB2genetic results in the clinical laboratory setting	2
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome	2
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	2
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series	2
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	2