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 2021-07-01 to 2025-07-01.)

Article	Citations
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	69
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	55
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	55
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	50
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	50
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	46
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	45
Next generation of free? Points to consider when navigating sponsored genetic testing	43
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	39
Reclassification of candidate splicing variants refines clinically conflicting interpretations inSLC26A4-associated hearing loss	37
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	37
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	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
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	33
Histones: coming of age in Mendelian genetic disorders	32
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma	30
PSMD3gene mutations cause pathological myopia	29
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	29
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	29
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	27
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	26
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	26
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	25
A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype	25

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants inSMAD4:a nationwide study	25
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	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	23
GermlineHPF1retrogene insertion inRB1gene involved in cancer predisposition	23
Call for emergency action to limit global temperature increases, restore biodiversity and protect health	22
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
Identification ofMACF1as a causative gene of generalised epilepsy	22
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	22
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	22
Complex structural variation and nonsense variantin transcauseVPS50-related disorder	21
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	21
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	21
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway	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
Commentary onEstimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	19
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	19
Authors’ response to the commentary by Kivelaet alon Hanyet al(2024)	19
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component	19
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines	18
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	18
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	18
Advances in research on the mechanism of tsRNA action in tumours	18
Expanded targeted preconception screening panel in Israel: findings and insights	18
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	17
Genotype and phenotype correlation ofPHACTR1-related neurological disorders	17
COP27 climate change conference: urgent action needed for Africa and the world	16
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	16
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome	16
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	15
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	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
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	15
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity	14
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method	14
Novel biallelicNUP107variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations	14
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	14
Using long-read sequencing to detect and subtype a case with Temple syndrome	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
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
Intermediate-effect size p.Arg637Gln inFHOD3increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	13
New variants and genotype–phenotype correlation inKIF5Amutation: the contribution of a large Italian cohort	13
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes	13
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers	13
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	13
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene	13
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	13
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	12
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	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
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	12
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	12
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	12
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	11
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	11
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	11
Short stature, brachydactyly and joint contractures associated with novelFBN2variants in two families	11
HomozygousSMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis	11
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025	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
Systematic reanalysis of copy number losses of uncertain clinical significance	11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	11
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	11
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	11
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	11
Congenital mirror movements are associated with defective polymerisation of RAD51	11
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	10
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	10
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)	10
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	10
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	10
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	9
GOLM1: expanding our understanding of melanoma susceptibility	9
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	9
POT1and multiple primary melanomas: the dermatological phenotype	9
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	9
AOPEP -related autosomal recessive dystonia: update on Zech-Boesch syndrome	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
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	9
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	9
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
Validation of the NCCN/Yale criteria for the identification ofCDH1pathogenic variant carriers	8
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	8
De novo variants inKCNJ3are associated with early-onset epilepsy	8
From onset to blindness: a comprehensive analysis of RPGR -associated X-linked retinopathy in a large cohort in China	8
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations	8
FLNAgenomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	8
HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta	8
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	8
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	8
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	8
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	7
Hiding in plain sight: a partial deletion ofBRCA1exon 7 undetectable by MLPA is a Nepali founder variant	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
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations inSMAD4	7
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant	7
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	7
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	7
Differential rates of germline heterozygote and mosaic variants inNF2may show varying propensity for meiotic or mitotic mutation	7
Homozygous missense variant inC2orf69causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	7
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	7
GLRA2gene mutations cause high myopia in humans and mice	7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	7
Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans	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
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	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
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7