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 2022-08-01 to 2026-08-01.)

Article	Citations
Next generation of free? Points to consider when navigating sponsored genetic testing	92
Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss	68
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus	67
Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings	66
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia	59
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum	51
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation	47
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis	45
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis	40
MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans	38
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population	37
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants	36
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	35
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction	34
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	34
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome	34
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa	33
Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort	30
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation	30
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service	26
Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics	26
PSMD3 gene mutations cause pathological myopia	25
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	24
Histones: coming of age in Mendelian genetic disorders	23
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome	22

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation	22
Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies	22
First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked	21
Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study	21
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	20
Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort	20
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients	20
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities	20
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study	20
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition	20
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities	20
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus	19
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease	19
Identification of MACF1 as a causative gene of generalised epilepsy	19
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees	18
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel	18
Homologous recombination deficiency in unselected cases of high-grade ovarian carcinoma	17
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients	17
Refining the phenotypic spectrum of PNKP -related microcephaly: a study of 27 new patients	16
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre	16
Expanded targeted preconception screening panel in Israel: findings and insights	16
Advances in research on the mechanism of tsRNA action in tumours	16
Authors’ response to the commentary by Kivela et al on Hany et al (2024)	16
Genotype and phenotype correlation of PHACTR1-related neurological disorders	16
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank	16
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation	15
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion	15
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome	15
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines	15
Complex structural variation and nonsense variant in trans cause VPS50-related disorder	15
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights	14
Using long-read sequencing to detect and subtype a case with Temple syndrome	14
Six at Sixty. ‘No gain, no pain’: medical genetics taking Nav1.7 from target to pharmacy	14
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort	14
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme	14
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity	14
A founder UMOD variant is a common cause of hereditary nephropathy in the British population	13
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes	13
COP27 climate change conference: urgent action needed for Africa and the world	13
Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature	13
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature	12
Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies	12
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers	12
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations	12
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort	12
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines	12
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies	12
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity	11
Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome	11
Male–female phenotype correlation and dissociation related to mutations in the ARX gene	11

MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect	11
Test the grandfather! Incidental in-frame DMD deletions in three asymptomatic families	11
Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection	11
Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 – what we have gained, what we have missed	11
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications	11
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes	11
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	11
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers	11
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?	11
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutatio	10
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer	10
Correction 2: A common SLC26A4 -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aque	10
Congenital mirror movements are associated with defective polymerisation of RAD51	10
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway	10
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome	10
Evidence of a genetic background predisposing to complex regional pain syndrome type 1	10
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages	10
Systematic reanalysis of copy number losses of uncertain clinical significance	10
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations	10
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis	10
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals	10
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency	10
Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025	10
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature	10
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome	10
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes	10
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families	9
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities	9
Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis	9
GOLM1: expanding our understanding of melanoma susceptibility	9
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	9
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS	9
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations	9
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome	9
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome	8
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases	8
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function	8
Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers	8
Correction: UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants	8
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta	8
GAPO syndrome: a comprehensive examination and review of 105 clinical cases	8
Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency	8
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss	8
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death	8
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers	8
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome	8
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma	8
ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer	8
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems	8
No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish	8
POT1 and multiple primary melanomas: the dermatological phenotype	8
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy	8
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries	8
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome	7
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes	7
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4	7
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2	7
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement	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
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation	7
Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records	7
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study	7
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients	7
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes	7
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation	7
TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation	7
De novo variants in KCNJ3 are associated with early-onset epilepsy	7
Long-term efficacy of migalastat in females with Fabry disease	7
Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study	7
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer	7
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer	7
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants inBRCA1andBRCA2	7
Variant classification changes over time in the clinical molecular diagnostic laboratory setting	7
FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations	7
Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant	7
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China	7
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China	7