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 2021-04-01 to 2025-04-01.)

Article	Citations
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer	59
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy	52
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum	49
Cancer risk and tumour spectrum in 172 patients with a germlineSUFUpathogenic variation: a collaborative study of the SIOPE Host Genome Working Group	46
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations	46
Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus	41
Heterozygous pathogenic variants involvingCBFBcause a new skeletal disorder resembling cleidocranial dysplasia	41
Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis	36
Systematic reanalysis of copy number losses of uncertain clinical significance	34
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing	33
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans	33
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	33
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing	32
Clinical and mutational signatures ofCRB1-associated retinopathies: a multicentre study	30
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper	28
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations	28
Pseudocoloboma-like maculopathy with biallelicRDH12missense mutations	27
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning	26
Congenital mirror movements are associated with defective polymerisation of RAD51	25
Public willingness to participate in population DNA screening in Australia	24
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2	24
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	24
Next generation of free? Points to consider when navigating sponsored genetic testing	23
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey	22
Cerebral visual impairment: genetic diagnoses and phenotypic associations	22

De novo heterozygous missense variants inCELSR1as cause of fetal pleural effusions and progressive fetal hydrops	22
Six at Sixty. Commentary on identification of thePTENgene as a major contributor to autism spectrum disorder	21
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy	21
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	21
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study	21
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum	20
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases	20
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant ofTREM2	20
Update of penetrance estimates in Birt-Hogg-Dubé syndrome	20
Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review	20
Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	20
Impact of pathogenicFBN1variant types on the development of severe scoliosis in patients with Marfan syndrome	19
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia	19
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1	19
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews	19
Further characterisation ofARX-related disorders in females due to inherited or de novo variants	19
Dominant negative variants inIKZF2cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay	19
CDH1germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome	18
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon	18
Simplified and more sensitive criteria for identifying individuals with pathogenicCDH1variants	18
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability	18
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex	17
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study	17
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)	17
UK recommendations forSDHAgermline genetic testing and surveillance in clinical practice	16
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness	16
CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR	16
First estimates of diffuse gastric cancer risks for carriers ofCTNNA1germline pathogenic variants	16
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders	15
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium	15
Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct	15
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity	15
Long-term tumour dormancy in aBRCA1heterozygote	15
Correction: SETD1B-associated neurodevelopmental disorder	14
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	14
OTX2duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	14
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)	13
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	13
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	13
Familial Alzheimer’s disease associated with heterozygousNPC1mutation	13
Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease	13
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	13
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	13
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions	13
Population-based analysis ofPOT1variants in a cutaneous melanoma case–control cohort	12
Prevalence of Fabry disease-causing variants in the UK Biobank	12
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	12
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure	12
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	12
Adult phenotype of KCNQ2 encephalopathy	12

A homozygous variant inCHMP3is associated with complex hereditary spastic paraplegia	12
Robust detection of pathogenicHYDINvariants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	11
A tandem duplication of exon 42 of theDMDgene is a likely benign variant	11
Faecal incontinence disorders in Wolfram syndrome: a new manifestation	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	11
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy	11
TFAP2Eis implicated in central nervous system, orofacial and maxillofacial anomalies	11
Predicting the likelihood ofBRCA1/2germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals	11
Variable skeletal phenotypes associated with biallelic variants in PRKG2	11
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	11
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries	11
Methodology in phenome-wide association studies: a systematic review	11
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot	11
Mutation in mitral valve prolapse susceptible geneDCHS1causes familial mitral annular disjunction	10
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects	10
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals	10
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	10
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples	10
Clinical, genetic and biochemical signatures ofRBP4-related ocular malformations	9
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures	9
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis	9
Phenotypical differences ofC9ORF72gene-positive and negative amyotrophic lateral sclerosis: a comparative case series	9
Histones: coming of age in Mendelian genetic disorders	9
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	9
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression	9
Titin copy number variations associated with dominant inherited phenotypes	9
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)	9
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C	9
GOLM1: expanding our understanding of melanoma susceptibility	9
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron ofATP7Aas a novel cause of occipital horn syndrome	9
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome	9
Development of a comprehensive approach to adult hereditary cancer testing in Ontario	9
RecurrentBRCA2exon 3 deletion in Assyrian families	9
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene	8
PSMD3gene mutations cause pathological myopia	8
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	8
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation	8
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome	8
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	8
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data	8
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	8
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability	7
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts	7
Breast cancer risk inNF1-deleted patients	7
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers	7
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome	7
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly	7
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review	7
BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis	7
Clinical and genetic spectrum ofRNF216-related disorder: a new case and literature review	7
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	7
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome	7
Identifying the molecular drivers of ALS-implicated missense mutations	7
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality	7
Germline mutations inWNK2could be associated with serrated polyposis syndrome	7
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	7
WDR45variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females	7