Journal of Medical Genetics

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	65
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	55
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	54
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	50
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	49
Next generation of free? Points to consider when navigating sponsored genetic testing	44
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	43
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	41
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	38
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	37
Reclassification of candidate splicing variants refines clinically conflicting interpretations inSLC26A4-associated hearing loss	37
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	35
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	32
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	32
UK clinical practice guidelines for the management of patients with constitutionalPOT1pathogenic variants	31
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	31
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	29
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	27
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
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	25
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	24

Identification ofMACF1as a causative gene of generalised epilepsy	23
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	23
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	23
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	22
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	22
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	22
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	22
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	22
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	21
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	21
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
Call for emergency action to limit global temperature increases, restore biodiversity and protect health	21
Complex structural variation and nonsense variantin transcauseVPS50-related disorder	20
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	20
Expanded targeted preconception screening panel in Israel: findings and insights	19
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series	19
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	19
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)	19
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	19
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	18
Genotype and phenotype correlation ofPHACTR1-related neurological disorders	18
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	17
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	17
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	17
Advances in research on the mechanism of tsRNA action in tumours	16
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	16
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	16
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	16
COP27 climate change conference: urgent action needed for Africa and the world	15
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
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	15
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission	15
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome	15
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	14
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	14
Novel biallelicNUP107variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations	13
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	13
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study	13
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	13
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	13
A founderUMODvariant is a common cause of hereditary nephropathy in the British population	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
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	13
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	13
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity	12
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	12
Using long-read sequencing to detect and subtype a case with Temple syndrome	12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	12
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers	12
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	12

Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	12
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	12
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis	11
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	11
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	11
Congenital mirror movements are associated with defective polymerisation of RAD51	11
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	11
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	11
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	11
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025	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
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	11
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families	10
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	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
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	10
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	10
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)	10
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	9
AOPEP -related autosomal recessive dystonia: update on Zech-Boesch syndrome	9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	9
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	9
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	9
De novo variants inKCNJ3are associated with early-onset epilepsy	9
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	9
GOLM1: expanding our understanding of melanoma susceptibility	9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	9
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	9
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	8
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	8
POT1and multiple primary melanomas: the dermatological phenotype	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	8
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers	8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	8
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	7
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK2	7
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	7
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant	7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans	7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant	7
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD4	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
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	7
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis	7
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	6
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders	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
Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records	6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence	6
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum	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
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	6
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2	6
GLRA2gene mutations cause high myopia in humans and mice	6
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder	6

Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA	6
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice	6
Genotypes and phenotypes ofDNM1encephalopathy	6
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	6
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort	6
Variant reclassification and clinical implications	6
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	6
Homozygous loss of function variant inLMNB2gene causes major brain malformation and perinatal death	6
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study	5
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants	5
Methodology in phenome-wide association studies: a systematic review	5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer	5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	5
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	5
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon	5
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms	5
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive	5
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	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
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	5
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C	5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	5
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice	5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	5
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	5
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study	5
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated withRNU4-2variants	5
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	5
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis	5
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis	5
Identifying the molecular drivers of ALS-implicated missense mutations	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
A tandem duplication of exon 42 of theDMDgene is a likely benign variant	5
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	5
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	5
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases	5
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency	5
Genetic features and kidney morphological changes in women with X-linked Alport syndrome	5
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	4
Charis Eng: an appreciation	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
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access	4
Rare missense variants inFNDC1are associated with severe adolescent idiopathic scoliosis	4
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy	4
Systems approach to enhance Lynch syndrome diagnosis through tumour testing	4
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis	4
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis	4
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease	4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome	4
TP53c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma	4
New insights intoCC2D2A-related Joubert syndrome	4
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project	4
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome	4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	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
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer	4
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India	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
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3	4
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice	4
Germline pathogenicSMARCA4variants in neuroblastoma	4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults	4
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy	4
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	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
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants	3
Titin copy number variations associated with dominant inherited phenotypes	3
Development of a comprehensive approach to adult hereditary cancer testing in Ontario	3
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression	3
Further characterisation ofARX-related disorders in females due to inherited or de novo variants	3
De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops	3
Variable skeletal phenotypes associated with biallelic variants in PRKG2	3
Pancreatic cancer cluster region identified inBRCA2	3
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR	3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation	3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes	3
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects	3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	3
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions	3
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	3
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes	3
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy	3
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024)	3
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	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
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	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
Public willingness to participate in population DNA screening in Australia	3
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients	3
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals	3