Journal of Medical Genetics

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	61
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	53
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	52
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	49
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	47
Next generation of free? Points to consider when navigating sponsored genetic testing	43
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	41
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	39
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	36
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	35
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	35
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	34
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	32
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	30
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	28
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	28
Histones: coming of age in Mendelian genetic disorders	27
PSMD3gene mutations cause pathological myopia	27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	26
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	25
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	25
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	25
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	24
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	23
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	23

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	22
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	22
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	22
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	22
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	21
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	21
Call for emergency action to limit global temperature increases, restore biodiversity and protect health	21
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	21
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	20
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	20
Complex structural variation and nonsense variantin transcauseVPS50-related disorder	20
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	20
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series	19
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)	19
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	19
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	19
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	18
Expanded targeted preconception screening panel in Israel: findings and insights	18
Genotype and phenotype correlation ofPHACTR1-related neurological disorders	17
Advances in research on the mechanism of tsRNA action in tumours	17
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	17
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	17
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	17
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	17
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	16
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	16
COP27 climate change conference: urgent action needed for Africa and the world	16
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years	15
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	15
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission	15
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study	15
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome	15
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	14
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	14
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	14
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	13
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	13
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	13
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers	13
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	13
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	12
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	12
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	12
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	12
A founderUMODvariant is a common cause of hereditary nephropathy in the British population	12
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	12
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis	12
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	12
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	12

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	12
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	11
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	11
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	11
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	11
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	11
Congenital mirror movements are associated with defective polymerisation of RAD51	11
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	11
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)	11
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	11
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	11
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families	11
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	11
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	10
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	10
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	10
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	10
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome	10
GOLM1: expanding our understanding of melanoma susceptibility	10
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	10
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	10
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	9
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	9
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	9
De novo variants inKCNJ3are associated with early-onset epilepsy	9
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function	8
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	8
POT1and multiple primary melanomas: the dermatological phenotype	8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD4	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China	7
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans	7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK2	7
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service	7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant	7
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	7
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	6
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer	6
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	6
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	6
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice	6
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders	6
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	6
Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant	6
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis	6
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort	6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence	6
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	6
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis	6
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2	6
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum	6
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	6
Genetic features and kidney morphological changes in women with X-linked Alport syndrome	6
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive	6
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases	6
Variant reclassification and clinical implications	6
GLRA2gene mutations cause high myopia in humans and mice	6

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study	6
Genotypes and phenotypes ofDNM1encephalopathy	6
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder	6
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency	6
Homozygous loss of function variant inLMNB2gene causes major brain malformation and perinatal death	6
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA	6
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C	5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer	5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	5
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study	5
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice	5
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	5
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon	5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	5
Methodology in phenome-wide association studies: a systematic review	5
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome	5
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	5
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	5
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability	5
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants	5
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	5
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis	5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	5
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	5
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	5
A tandem duplication of exon 42 of theDMDgene is a likely benign variant	5
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms	5
Identifying the molecular drivers of ALS-implicated missense mutations	5
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis	5
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	5
Germline pathogenicSMARCA4variants in neuroblastoma	4
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice	4
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome	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
Systems approach to enhance Lynch syndrome diagnosis through tumour testing	4
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease	4
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India	4
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3	4
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project	4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults	4
Charis Eng: an appreciation	4
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1	4
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis	4
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department	4
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics	4
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis	4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome	4
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access	4
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy	4
Rare missense variants inFNDC1are associated with severe adolescent idiopathic scoliosis	4
New insights intoCC2D2A-related Joubert syndrome	4
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	4
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer	4
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	4
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy	4
Germline testing ofBRCA1,BRCA2,PALB2andCHEK2c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing ofATM	4
Recontact to return new or updatedPALB2genetic results in the clinical laboratory setting	4
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project	4
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR	3
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	3
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	3
Public willingness to participate in population DNA screening in Australia	3
Sequencing of theZMYND15gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia	3
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis	3
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis	3
TP53c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma	3
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients	3
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions	3
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	3
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation	3
Titin copy number variations associated with dominant inherited phenotypes	3
De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops	3
Further characterisation ofARX-related disorders in females due to inherited or de novo variants	3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation	3
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex	3
Biallelic mutations inARMC12cause asthenozoospermia and multiple midpiece defects in humans and mice	3
Pancreatic cancer cluster region identified inBRCA2	3
De novo heterozygous missense variants inATP11Aare associated with refractory focal epilepsy	3
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders	3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes	3
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression	3
Variable skeletal phenotypes associated with biallelic variants in PRKG2	3
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	3
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants	3
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders	3
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024)	3
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes	3
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals	3
Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disea	3
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum	3
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects	3