OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Medical Genetics is 9. 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 2020-05-01 to 2024-05-01.)

Article	Citations
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis	61
Assessing performance of pathogenicity predictors using clinically relevant variant datasets	57
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group	57
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics	46
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis	43
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function	42
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)	39
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors	33
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency	32
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study	30
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects	29
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction	29
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population	28
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	28
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease	27
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations	27
Population-based targeted sequencing of 54 candidate genes identifiesPALB2as a susceptibility gene for high-grade serous ovarian cancer	27
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer	26
Axenfeld-Rieger syndrome: more than meets the eye	26
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence	26
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita	24
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease	24
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations	24
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex	24
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease	23

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants	23
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH	23
SETD1B-associated neurodevelopmental disorder	22
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy	22
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders	21
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients	21
Prenatal clinical manifestations in individuals with COL4A1/2 variants	20
Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia	20
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare	20
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping	20
Analysis of genotype–phenotype correlations in PAX6-associated aniridia	20
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era	20
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy	20
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality	19
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)	19
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes	19
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum	19
Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait	18
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population	18
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome	18
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients	18
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice	18
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1	17
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations	17
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation	16
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation	16
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant	16
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene	16
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis	16
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives	16
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study	15
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy	15
Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19	15
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors	15
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases	15
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study	15
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences	14
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing	14
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository	14
Defining the phenotypical spectrum associated with variants in TUBB2A	14
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy	14
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases	13
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders	13
Adult phenotype of KCNQ2 encephalopathy	13
Patient-facing digital tools for delivering genetic services: a systematic review	13
Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability	13
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes	13
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish co	13
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing	13
Assessment of mismatch repair deficiency in ovarian cancer	13

Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest	13
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants	13
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome	13
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa	13
Human X chromosome exome sequencing identifiesBCORL1as contributor to spermatogenesis	13
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability	13
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression	13
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists	13
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants	12
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population	12
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects	12
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2	12
Prevalence of Fabry disease-causing variants in the UK Biobank	12
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB	12
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents	12
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure	12
BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia	11
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers	11
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy	11
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy	11
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingFOXP2	11
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	11
Sporadic vestibular schwannoma: a molecular testing summary	11
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)	11
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss	11
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	11
The role of single-cell genomics in human genetics	11
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel	11
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting	11
Congenital sensorineural hearing loss as the initial presentation ofPTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms	10
Dysfunction of VIPR2 leads to myopia in humans and mice	10
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases	10
Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy	10
Methodology in phenome-wide association studies: a systematic review	10
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment	10
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer	10
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome	10
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis	10
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes	10
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	10
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project	10
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2	10
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis	10
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis	10
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features	10
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy	10
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis	10
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa	10
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality	10
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports	9
Homozygous variants inAKAP3induce asthenoteratozoospermia and male infertility	9
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program	9
Rare and de novo duplications containing SHOX in clubfoot	9
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes	9
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia	9
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population	9
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive	9
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum	9
Exome sequencing analysis identifies frequent oligogenic involvement andFLNBvariants in adolescent idiopathic scoliosis	9
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot	9
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits	9
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing	9
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state	9
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting	9
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder	9
Genetic and functional insights into CDA-I prevalence and pathogenesis	9
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population	9