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 2020-11-01 to 2024-11-01.)

Article	Citations
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group	69
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	48
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency	40
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer	39
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	37
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors	35
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence	34
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease	33
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations	32
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease	30
Axenfeld-Rieger syndrome: more than meets the eye	29
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	29
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	28
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita	27
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy	26
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH	25
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population	25
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	25
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality	24
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	23
Patient-facing digital tools for delivering genetic services: a systematic review	22
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice	22
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy	21
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases	19
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum	19

Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	18
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	18
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	18
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingFOXP2	18
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1	18
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2	18
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation	18
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation	18
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors	18
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository	17
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	17
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene	17
Methodology in phenome-wide association studies: a systematic review	16
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)	16
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study	16
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy	16
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa	16
Adult phenotype of KCNQ2 encephalopathy	16
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists	16
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot	16
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	16
Prevalence of Fabry disease-causing variants in the UK Biobank	16
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases	16
BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia	16
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	15
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome	15
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders	15
The role of single-cell genomics in human genetics	15
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases	14
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB	14
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability	14
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	14
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer	14
Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability	14
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	14
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy	14
Dysfunction of VIPR2 leads to myopia in humans and mice	13
Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy	13
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	13
Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	13
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure	13
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	13
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	13
GLRA2gene mutations cause high myopia in humans and mice	12
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel	12
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	12
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	12
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project	12
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing	12
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers	12

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis	12
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive	11
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	11
Homozygous variants inAKAP3induce asthenoteratozoospermia and male infertility	11
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome	11
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis	11
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	10
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis	10
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	10
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes	10
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state	9
Germline pathogenicSMARCA4variants in neuroblastoma	9
FSIP2plays a role in the acrosome development during spermiogenesis	9
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	9
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	9
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review	9
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	9
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes	9
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?	9
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	9
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	9
Deep exploration of aCDKN1Cmutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay	9
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts	9
Biallelic mutations inCFAP54cause male infertility with severe MMAF and NOA	9
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population	9
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus	9
Dominant negative mutation in oxalate transporterSLC26A6associated with enteric hyperoxaluria and nephrolithiasis	9
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study	9
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics	9
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	9
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	8
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer	8
Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group	8
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma	8
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project	8
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes	8
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1	8
Activation of cryptic donor splice sites by non-coding and codingPAX6variants contributes to congenital aniridia	8
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events	8
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome	8
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium	8
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases	8
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus	7
Adaptive nanopore sequencing to determine pathogenicity ofBRCA1exonic duplication	7
Complete loss of the X-linked geneCASKcauses severe cerebellar degeneration	7
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	7
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	7
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy	7
Improving the clinical interpretation of missense variants in X linked genes using structural analysis	7
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders	7
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome	7
Identifying the molecular drivers of ALS-implicated missense mutations	7
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers	7
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency	7
Conclusion of diagnostic odysseys due to inversions disruptingGLI3andFBN1	7
SDHBvariant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma	7
Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia	7
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome	7
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity	7