OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Medical Genetics is 7. 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.)

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

Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	22
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	22
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	22
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	22
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	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
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	21
Call for emergency action to limit global temperature increases, restore biodiversity and protect health	21
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	20
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	20
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	20
Complex structural variation and nonsense variantin transcauseVPS50-related disorder	20
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)	19
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	19
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	19
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series	19
Expanded targeted preconception screening panel in Israel: findings and insights	18
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	18
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	17
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	17
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	17
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	17
Genotype and phenotype correlation ofPHACTR1-related neurological disorders	17
Advances in research on the mechanism of tsRNA action in tumours	17
COP27 climate change conference: urgent action needed for Africa and the world	16
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	16
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	16
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome	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
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	15
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission	15
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study	15
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	14
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	14
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	14
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers	13
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants	13
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	13
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	13
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	13
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	12
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis	12
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	12
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	12
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	12
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	12
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	12
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	12
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	12

A founderUMODvariant is a common cause of hereditary nephropathy in the British population	12
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
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
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families	11
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	11
APCgermline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	11
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	11
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	11
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	11
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
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	11
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	10
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome	10
GOLM1: expanding our understanding of melanoma susceptibility	10
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	10
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	10
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	10
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	10
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	10
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	10
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	9
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	9
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	9
X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	9
De novo variants inKCNJ3are associated with early-onset epilepsy	9
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	9
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss ofSPRY1(sprouty homolog 1) function	8
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	8
POT1and multiple primary melanomas: the dermatological phenotype	8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China	7
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans	7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyondBRCA2, BRCA1andCHEK2	7
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service	7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant	7
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	7
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD4	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7