Journal of Medical Genetics

Papers
(The median citation count of Journal of Medical Genetics is 3. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-06-01 to 2025-06-01.)
ArticleCitations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus65
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness55
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 st54
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia50
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum49
Next generation of free? Points to consider when navigating sponsored genetic testing44
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome43
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis41
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank38
Familial Alzheimer’s disease associated with heterozygousNPC1mutation37
Reclassification of candidate splicing variants refines clinically conflicting interpretations inSLC26A4-associated hearing loss37
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants35
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population32
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome32
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa31
UK clinical practice guidelines for the management of patients with constitutionalPOT1pathogenic variants31
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma29
PSMD3gene mutations cause pathological myopia27
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction27
Histones: coming of age in Mendelian genetic disorders27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome26
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients25
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study25
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities25
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees24
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study23
Identification ofMACF1as a causative gene of generalised epilepsy23
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus23
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities22
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel22
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation22
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition22
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype22
Call for emergency action to limit global temperature increases, restore biodiversity and protect health21
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients21
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre21
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 CanGe21
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program20
Complex structural variation and nonsense variantin transcauseVPS50-related disorder20
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway19
Expanded targeted preconception screening panel in Israel: findings and insights19
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series19
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects19
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)19
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank18
Genotype and phenotype correlation ofPHACTR1-related neurological disorders18
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component17
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme17
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma17
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation16
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines16
Advances in research on the mechanism of tsRNA action in tumours16
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome16
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome15
COP27 climate change conference: urgent action needed for Africa and the world15
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years15
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights15
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission15
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort14
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature14
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants13
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method13
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines13
Novel biallelicNUP107variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations13
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene13
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study13
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases13
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 population13
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications12
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes12
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity12
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency12
Using long-read sequencing to detect and subtype a case with Temple syndrome12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene12
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers12
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers12
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity11
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?11
Six at Sixty. Commentary on osteogenesis imperfecta 1975–202511
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome11
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway11
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer11
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis11
Evidence of a genetic background predisposing to complex regional pain syndrome type 111
Systematic reanalysis of copy number losses of uncertain clinical significance11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct11
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome11
Congenital mirror movements are associated with defective polymerisation of RAD5111
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations11
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families10
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations10
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases10
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome10
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes10
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders10
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 individuals10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis9
AOPEP -related autosomal recessive dystonia: update on Zech-Boesch syndrome9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries9
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities9
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases9
De novo variants inKCNJ3are associated with early-onset epilepsy9
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome9
GOLM1: expanding our understanding of melanoma susceptibility9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems9
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma9
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome8
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta8
POT1and multiple primary melanomas: the dermatological phenotype8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives8
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations8
Variant classification changes over time in the clinical molecular diagnostic laboratory setting8
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation7
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer7
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK27
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration7
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant7
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD47
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA27
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders7
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study7
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes6
Homozygous loss of function variant inLMNB2gene causes major brain malformation and perinatal death6
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest6
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders6
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 cancer6
Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence6
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum6
Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant6
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis6
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis6
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL26
GLRA2gene mutations cause high myopia in humans and mice6
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder6
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA6
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice6
Genotypes and phenotypes ofDNM1encephalopathy6
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China6
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort6
Variant reclassification and clinical implications6
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex5
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study5
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated withRNU4-2variants5
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants5
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function5
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis5
Methodology in phenome-wide association studies: a systematic review5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries5
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease5
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews5
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases5
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency5
Genetic features and kidney morphological changes in women with X-linked Alport syndrome5
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 study5
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study5
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome5
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis5
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay5
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon5
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms5
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive5
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey5
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis5
Identifying the molecular drivers of ALS-implicated missense mutations5
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome5
A tandem duplication of exon 42 of theDMDgene is a likely benign variant5
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome5
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy4
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer4
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India4
Germline testing ofBRCA1,BRCA2,PALB2andCHEK2c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing ofATM4
Recontact to return new or updatedPALB2genetic results in the clinical laboratory setting4
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB34
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice4
Germline pathogenicSMARCA4variants in neuroblastoma4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults4
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy4
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping4
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department4
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics4
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes4
Charis Eng: an appreciation4
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 Project4
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access4
Rare missense variants inFNDC1are associated with severe adolescent idiopathic scoliosis4
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy4
Systems approach to enhance Lynch syndrome diagnosis through tumour testing4
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis4
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis4
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome4
TP53c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma4
New insights intoCC2D2A-related Joubert syndrome4
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project4
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study4
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes3
De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy3
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 cancer3
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis3
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation3
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome3
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum3
Public willingness to participate in population DNA screening in Australia3
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients3
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals3
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants3
Titin copy number variations associated with dominant inherited phenotypes3
Development of a comprehensive approach to adult hereditary cancer testing in Ontario3
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression3
Further characterisation ofARX-related disorders in females due to inherited or de novo variants3
De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops3
Variable skeletal phenotypes associated with biallelic variants in PRKG23
Pancreatic cancer cluster region identified inBRCA23
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes3
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples3
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions3
Update of penetrance estimates in Birt-Hogg-Dubé syndrome3
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