Journal of Medical Genetics

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 2020-03-01 to 2024-03-01.)
ArticleCitations
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis56
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group53
Assessing performance of pathogenicity predictors using clinically relevant variant datasets52
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics44
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phe43
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility41
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis41
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)37
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function34
Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors30
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency29
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network29
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction28
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study28
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features27
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation27
‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects27
Prevalence ofBRCA1/BRCA2pathogenic variation in Chinese Han population26
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease26
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations26
Population-based targeted sequencing of 54 candidate genes identifiesPALB2as a susceptibility gene for high-grade serous ovarian cancer26
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 populations24
Bi-allelic loss-of-function variants inKIF21Acause severe fetal akinesia with arthrogryposis multiplex24
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer23
Axenfeld-Rieger syndrome: more than meets the eye23
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita22
SETD1B-associated neurodevelopmental disorder22
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy21
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH21
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease21
Enhancing the BOADICEA cancer risk prediction model to incorporate new data onRAD51C,RAD51D,BARD1updates to tumour pathology and cancer incidence21
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants20
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology20
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare20
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients20
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank20
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease20
Analysis of genotype–phenotype correlations in PAX6-associated aniridia19
Prenatal clinical manifestations in individuals with COL4A1/2 variants19
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders19
Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia19
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients18
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality18
Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait18
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes18
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population17
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy17
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome17
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping17
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia17
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum17
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants inCHST14(mcEDS-CHST14)17
Heterogeneity of MSI-H gastric cancer identifies a subtype with worse survival16
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives16
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A116
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy16
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations16
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant16
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation15
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors15
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation15
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era15
Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome15
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice15
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder15
Stay at home: implementation and impact of virtualising cancer genetic services during COVID-1914
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD14
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy14
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis14
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy14
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository13
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study13
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing13
Homozygous variants in SYCP2L cause premature ovarian insufficiency13
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases13
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants13
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences13
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa13
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene13
Adult phenotype of KCNQ2 encephalopathy13
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study13
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes13
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases13
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders13
Assessment of mismatch repair deficiency in ovarian cancer13
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists13
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants12
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression12
Human X chromosome exome sequencing identifiesBCORL1as contributor to spermatogenesis12
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest12
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects12
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 212
Defining the phenotypical spectrum associated with variants in TUBB2A12
Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability12
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB12
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure12
The role of single-cell genomics in human genetics11
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility11
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy11
Patient-facing digital tools for delivering genetic services: a systematic review11
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing11
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome11
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy11
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting11
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants11
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 co11
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers11
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability11
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss11
BiallelicCFAP61variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia11
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome10
Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome10
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment10
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project10
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa10
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis10
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis10
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy10
Gene discoveries in autism are biased towards comorbidity with intellectual disability10
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents10
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population10
Congenital sensorineural hearing loss as the initial presentation ofPTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms10
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features10
Sporadic vestibular schwannoma: a molecular testing summary10
Methodology in phenome-wide association studies: a systematic review10
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel10
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline10
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum9
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes9
Diverse types of genomic evidence converge on alcohol use disorder risk genes9
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality9
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports9
Homozygous variants inAKAP3induce asthenoteratozoospermia and male infertility9
Exome sequencing analysis identifies frequent oligogenic involvement andFLNBvariants in adolescent idiopathic scoliosis9
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis9
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer9
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation9
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state9
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting9
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes9
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population9
Prevalence of Fabry disease-causing variants in the UK Biobank9
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive9
Dysfunction of VIPR2 leads to myopia in humans and mice9
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