OOIR: Observatory of International Research

Papers

(The TQCC of Human Mutation 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
Variant interpretation using population databases: Lessons from gnomAD	197
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines	107
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation	85
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants	74
Benchmarking deep learning splice prediction tools using functional splice assays	56
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period	56
The human ATP‐binding cassette (ABC) transporter superfamily	51
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants	36
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer	33
Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers	32
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial	31
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review	31
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting	31
GRIN database: A unified and manually curated repertoire of GRIN variants	30
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6	30
Qatar genome: Insights on genomics from the Middle East	29
seqr : A web‐based analysis and collaboration tool for rare disease genomics	29
GATA2 deficiency syndrome: A decade of discovery	29
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians	28
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements	28
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders	27
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development	26
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain	26
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing	26
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	26

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population	25
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars	24
Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20	24
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	23
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	22
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	22
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration	20
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy	20
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification	20
Clinical exome sequencing—Mistakes and caveats	20
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)	20
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel	20
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome	19
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses	19
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the firstGATA3mutations	19
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	19
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	19
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease	18
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome	18
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening	18
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B	18
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature	18
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	18
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy	17
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)	17
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	17
Mutation prevalence tables for hereditary cancer derived from multigene panel testing	17
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10	17
CNGB1 ‐related rod‐cone dystrophy: A mutation review and update	16
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish	16
Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding	16
The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy	16
Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort	16
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases	16
SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data	15
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	15
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia	15
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type	15
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )	15
Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects	15
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome	15
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders	14
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines	14
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	14
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders	14
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity	14
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	14
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions	14
Actionable genomic variants in 6045 participants from the Qatar Genome Program	14
Integrated multi‐omics data analyses for exploring the co‐occurring and mutually exclusive gene alteration events in colorectal cancer	14

Identification of SRSF10 as a regulator of SMN2 ISS‐N1	14
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome	13
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome	13
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	13
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splici	13
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation	13
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	13
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project	13
Epidemiological aspects of hereditary fructose intolerance: A database study	13
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR	13
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	12
Clinical and laboratory interpretation of mitochondrial mRNA variants	12
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	12
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	12
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases	12
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	12
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	12
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease	12
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers	12
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	12
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	12
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database	11
Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss	11
Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment	11
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC	11
Cytogenetically visible inversions are formed by multiple molecular mechanisms	11
A survey of current methods to detect and genotype inversions	11
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR ‐ and EDA ‐associated nonsyn	11
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance	11
Identification of missense MAB21L1 variants in microphthalmia and aniridia	11
The genomic landscape of pediatric rheumatology disorders in the Middle East	11
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	10
Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients	10
Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR	10
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals	10
Genome sequencing in congenital cataracts improves diagnostic yield	10
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants	10
Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes	10
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria	10
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus	10
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	10
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy	10
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing	10
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes	10
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	10
The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome	10
Novel biallelic mutations inSLC26A8cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease	10
Relationship of DUX4 and target gene expression in FSHD myocytes	10
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	10
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	9
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	9
Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth	9
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome	9
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	9
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate	9
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing	9
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India	9
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	9
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay	9
Variant calling: Considerations, practices, and developments	9
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC g	9
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	9
Mutation update for the ACTN2 gene	9