Journal of Medical Genetics

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	70
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	60
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	58
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	52
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	50
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	48
Next generation of free? Points to consider when navigating sponsored genetic testing	46
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	45
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	42
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	38
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	37
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	36
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	35
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	35
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	35
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	32
PSMD3gene mutations cause pathological myopia	31
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	31
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	30
Histones: coming of age in Mendelian genetic disorders	29
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	27
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	27
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	26
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	26
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	25

GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	24
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	24
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	24
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	23
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	22
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	22
Identification ofMACF1as a causative gene of generalised epilepsy	22
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	22
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	22
Call for emergency action to limit global temperature increases, restore biodiversity and protect health	22
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	21
Complex structural variation and nonsense variantin transcauseVPS50-related disorder	21
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	20
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	20
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	19
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	19
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	19
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)	19
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	19
Expanded targeted preconception screening panel in Israel: findings and insights	18
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	18
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	18
Advances in research on the mechanism of tsRNA action in tumours	18
Genotype and phenotype correlation ofPHACTR1-related neurological disorders	18
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	17
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	16
COP27 climate change conference: urgent action needed for Africa and the world	16
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	16
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	15
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	15
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	15
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	15
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome	15
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	14
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	14
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort	14
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers	14
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity	14
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	13
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	13
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations	13
A founderUMODvariant is a common cause of hereditary nephropathy in the British population	13
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study	13
Using long-read sequencing to detect and subtype a case with Temple syndrome	13
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	13
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes	13
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	13
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	12
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	12
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	12

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	12
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis	12
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	12
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	12
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025	11
Congenital mirror movements are associated with defective polymerisation of RAD51	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
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	11
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	11
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	11
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	11
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	11
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families	11
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	11
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	11
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	10
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	10
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	10
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	10
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	10
GOLM1: expanding our understanding of melanoma susceptibility	10
AOPEP -related autosomal recessive dystonia: update on Zech-Boesch syndrome	10
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	9
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS	9
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss	9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	9
POT1and multiple primary melanomas: the dermatological phenotype	9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	9
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers	9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	9
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function	9
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	9
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans	8
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant	8
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	8
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China	8
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	8
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service	8
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	8
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	8
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	8
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	8
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD4	8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	8
De novo variants inKCNJ3are associated with early-onset epilepsy	8
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK2	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	7
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA	7
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder	7
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	7
Variant reclassification and clinical implications	7
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort	7
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis	7
Homozygous loss of function variant inLMNB2gene causes major brain malformation and perinatal death	7
GLRA2gene mutations cause high myopia in humans and mice	7
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2	7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	7
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	7
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice	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
Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records	7
Genotypes and phenotypes ofDNM1encephalopathy	6

Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders	6
Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant	6
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	6
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	6
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	6
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases	6
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms	6
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum	6
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study	6
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	6
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon	6
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency	6
Genetic features and kidney morphological changes in women with X-linked Alport syndrome	6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence	6
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	6
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study	6
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	6
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer	5
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy	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
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis	5
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease	5
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants	5
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	5
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants	5
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis	5
Identifying the molecular drivers of ALS-implicated missense mutations	5
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department	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
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics	5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	5
A tandem duplication of exon 42 of theDMDgene is a likely benign variant	5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	5
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice	5
‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy pr	5
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India	5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	5
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis	5
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C	5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	5
Germline testing ofBRCA1,BRCA2,PALB2andCHEK2c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing ofATM	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
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy	4
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access	4
TP53c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma	4
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals	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
Recontact to return new or updatedPALB2genetic results in the clinical laboratory setting	4
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis	4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	4
Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition	4
Rare missense variants inFNDC1are associated with severe adolescent idiopathic scoliosis	4
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy	4
Correction: Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	4
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3	4
Germline pathogenicSMARCA4variants in neuroblastoma	4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults	4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome	4
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	4
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	4
Systems approach to enhance Lynch syndrome diagnosis through tumour testing	4
New insights intoCC2D2A-related Joubert syndrome	4
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis	4
Pancreatic cancer cluster region identified inBRCA2	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
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients	4
Charis Eng: an appreciation	4
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affectingKCNQ1OT1and associated phenotypes	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
Development of a comprehensive approach to adult hereditary cancer testing in Ontario	3
Risk-reducing decisions regarding germlineBRCApathogenic variant: focusing on the timing of genetic testing and RRSO	3
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	3
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression	3
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation	3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation	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
Biallelic pathogenicTULP3variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations	3
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions	3
The role of single-cell genomics in human genetics	3
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects	3
Homozygous variant inTKFCabolishing triokinase activities is associated with isolated immunodeficiency	3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	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 inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops	3
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China	3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes	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
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	3
Variable skeletal phenotypes associated with biallelic variants in PRKG2	3
Titin copy number variations associated with dominant inherited phenotypes	3