Human Mutation

Papers
(The TQCC of Human Mutation is 10. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Variant interpretation using population databases: Lessons from gnomAD265
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation94
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants92
Benchmarking deep learning splice prediction tools using functional splice assays64
The human ATP‐binding cassette (ABC) transporter superfamily62
seqr : A web‐based analysis and collaboration tool for rare disease genomics39
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders38
GATA2 deficiency syndrome: A decade of discovery37
Qatar genome: Insights on genomics from the Middle East37
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial37
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer35
GRIN database: A unified and manually curated repertoire of GRIN variants35
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians32
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing31
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development30
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing29
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV29
Clinical exome sequencing—Mistakes and caveats28
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study27
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma26
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification26
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients26
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy23
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy23
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B23
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome22
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders22
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease22
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)22
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel22
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome22
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses21
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening21
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data21
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)20
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy20
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders20
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder20
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies19
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB1019
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability19
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish18
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature18
CNGB1 ‐related rod‐cone dystrophy: A mutation review and update17
Actionable genomic variants in 6045 participants from the Qatar Genome Program17
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study17
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project16
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome16
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants16
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases16
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease15
Epidemiological aspects of hereditary fructose intolerance: A database study15
Variant calling: Considerations, practices, and developments15
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome15
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel15
Identification of SRSF10 as a regulator of SMN2 ISS‐N115
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function14
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome14
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects14
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splici14
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation14
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature14
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery14
Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR14
Mutation update for the ACTN2 gene14
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data14
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest13
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases13
The genomic landscape of pediatric rheumatology disorders in the Middle East13
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing13
Identification of missense MAB21L1 variants in microphthalmia and aniridia13
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers13
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing13
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria12
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients12
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance12
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families12
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance12
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus12
Novel biallelic mutations inSLC26A8cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease12
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR12
Genome sequencing in congenital cataracts improves diagnostic yield12
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus12
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN212
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model12
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome12
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting12
A survey of current methods to detect and genotype inversions11
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder11
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction11
CHM mutation spectrum and disease: An update at the time of human therapeutic trials11
Relationship of DUX4 and target gene expression in FSHD myocytes11
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence11
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome11
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes11
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases11
A decade of RAD51C and RAD51D germline variants in cancer11
Destabilization of mutated human PUS3 protein causes intellectual disability11
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study11
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene11
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia11
Rapid genome sequencing for pediatrics11
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals11
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis10
Harmonizing variant classification for return of results in the All of Us Research Program10
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond10
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases10
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder10
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency10
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia10
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications10
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods10
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