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 2021-05-01 to 2025-05-01.)
ArticleCitations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus61
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness53
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 st52
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia49
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum47
Next generation of free? Points to consider when navigating sponsored genetic testing43
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants41
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome39
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis36
Familial Alzheimer’s disease associated with heterozygousNPC1mutation35
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank35
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population34
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome32
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction30
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma28
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa28
Histones: coming of age in Mendelian genetic disorders27
PSMD3gene mutations cause pathological myopia27
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome26
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
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients25
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients24
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study23
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees23
Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation22
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus22
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities22
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype22
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition21
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
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel21
Call for emergency action to limit global temperature increases, restore biodiversity and protect health21
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre20
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation20
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights20
Complex structural variation and nonsense variantin transcauseVPS50-related disorder20
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 Program19
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway19
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series19
Expanded targeted preconception screening panel in Israel: findings and insights18
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines18
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank17
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component17
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects17
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma17
Genotype and phenotype correlation ofPHACTR1-related neurological disorders17
Advances in research on the mechanism of tsRNA action in tumours17
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome16
COP27 climate change conference: urgent action needed for Africa and the world16
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme16
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study15
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome15
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
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 transmission15
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines14
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort14
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes14
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers13
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
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases13
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature13
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method13
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene12
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis12
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene12
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement12
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency12
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers12
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer12
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications12
Evidence of a genetic background predisposing to complex regional pain syndrome type 112
A founderUMODvariant is a common cause of hereditary nephropathy in the British population12
Systematic reanalysis of copy number losses of uncertain clinical significance11
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations11
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 syndrome11
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 families11
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome11
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals11
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway11
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct11
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes11
Congenital mirror movements are associated with defective polymerisation of RAD5111
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
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis10
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome10
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations10
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities10
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases10
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome10
GOLM1: expanding our understanding of melanoma susceptibility10
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems9
De novo variants inKCNJ3are associated with early-onset epilepsy9
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome9
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries9
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function8
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration8
POT1and multiple primary melanomas: the dermatological phenotype8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy8
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death8
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing8
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK27
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA27
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant7
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders7
Variant classification changes over time in the clinical molecular diagnostic laboratory setting7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD47
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes7
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China7
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans7
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL26
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum6
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis6
Genetic features and kidney morphological changes in women with X-linked Alport syndrome6
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive6
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases6
Variant reclassification and clinical implications6
GLRA2gene mutations cause high myopia in humans and mice6
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study6
Genotypes and phenotypes ofDNM1encephalopathy6
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A -related disorder6
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency6
Homozygous loss of function variant inLMNB2gene causes major brain malformation and perinatal death6
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA6
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis6
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
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China6
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients6
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice6
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders6
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex6
Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant6
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis6
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort6
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence6
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study6
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis6
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability5
Ureteropelvic junction obstruction with primary lymphoedema associated withCELSR1variants5
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
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis5
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay5
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers5
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews5
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey5
Identifying the molecular drivers of ALS-implicated missense mutations5
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis5
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome5
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease5
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C5
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer5
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function5
A tandem duplication of exon 42 of theDMDgene is a likely benign variant5
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms5
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon5
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis5
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries5
Methodology in phenome-wide association studies: a systematic review5
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome5
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome5
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study5
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice5
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest5
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India4
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB34
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project4
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults4
Charis Eng: an appreciation4
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A14
Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis4
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
LargeTRAPPC11gene deletions as a cause of muscular dystrophy and their estimated genesis4
K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome4
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access4
RecessiveMECRpathogenic variants cause an LHON-like optic neuropathy4
Rare missense variants inFNDC1are associated with severe adolescent idiopathic scoliosis4
New insights intoCC2D2A-related Joubert syndrome4
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping4
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer4
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes4
TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy4
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
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
Germline pathogenicSMARCA4variants in neuroblastoma4
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice4
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome4
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy4
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study4
Systems approach to enhance Lynch syndrome diagnosis through tumour testing4
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease4
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions3
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
Titin copy number variations associated with dominant inherited phenotypes3
De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops3
Further characterisation ofARX-related disorders in females due to inherited or de novo variants3
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex3
Faecal incontinence disorders in Wolfram syndrome: a new manifestation3
Biallelic mutations inARMC12cause asthenozoospermia and multiple midpiece defects in humans and mice3
Pancreatic cancer cluster region identified inBRCA23
De novo heterozygous missense variants inATP11Aare associated with refractory focal epilepsy3
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders3
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples3
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes3
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression3
Variable skeletal phenotypes associated with biallelic variants in PRKG23
Update of penetrance estimates in Birt-Hogg-Dubé syndrome3
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants3
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders3
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 outcomes3
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals3
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 disea3
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum3
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects3
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR3
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome3
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer3
Sequencing of theZMYND15gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia3
Public willingness to participate in population DNA screening in Australia3
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis3
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis3
TP53c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma3
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients3
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