Human Mutation

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 2020-02-01 to 2024-02-01.)
ArticleCitations
Variant interpretation using population databases: Lessons from gnomAD152
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines94
Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individu82
A mutation update for the FLNC gene in myopathies and cardiomyopathies81
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation76
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants66
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period51
Benchmarking deep learning splice prediction tools using functional splice assays50
The human ATP‐binding cassette (ABC) transporter superfamily40
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants33
Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers31
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia30
FANCL gene mutations in premature ovarian insufficiency29
Functional consequences of SLC1A3 mutations associated with episodic ataxia 629
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer29
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review29
GRIN database: A unified and manually curated repertoire of GRIN variants28
The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis26
The EAHAD blood coagulation factor VII variant database26
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements26
GATA2 deficiency syndrome: A decade of discovery25
Qatar genome: Insights on genomics from the Middle East25
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain24
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study24
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV23
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial23
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing23
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides22
TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population22
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars22
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders22
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians22
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia21
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling21
Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM2021
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy20
LEAP: Using machine learning to support variant classification in a clinical setting20
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling20
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development20
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration20
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)19
Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy19
Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease18
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients18
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the firstGATA3mutations18
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B18
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening18
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing18
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses18
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB1017
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification17
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency17
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome17
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel16
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma16
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish16
CACNA1H variants are not a cause of monogenic epilepsy16
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature16
CNGB1 ‐related rod‐cone dystrophy: A mutation review and update15
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome15
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases15
Clinical exome sequencing—Mistakes and caveats15
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )15
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)15
Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding14
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type14
Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort14
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy14
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines14
The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy14
Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility13
Actionable genomic variants in 6045 participants from the Qatar Genome Program13
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform13
Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects13
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions13
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity13
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants13
Identification of SRSF10 as a regulator of SMN2 ISS‐N113
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome13
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease13
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders13
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome13
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy13
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies13
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases12
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families12
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants12
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study12
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome12
ZMYND11 ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum12
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders12
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder12
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia12
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splici11
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome11
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder11
Identification of missense MAB21L1 variants in microphthalmia and aniridia11
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC11
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease11
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project11
Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment11
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR ‐ and EDA ‐associated nonsyn11
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data11
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel11
Clinical and laboratory interpretation of mitochondrial mRNA variants11
Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss11
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation11
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects11
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria10
Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients10
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance10
A survey of current methods to detect and genotype inversions10
Epidemiological aspects of hereditary fructose intolerance: A database study10
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases10
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature10
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database10
Cytogenetically visible inversions are formed by multiple molecular mechanisms10
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy10
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome10
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants10
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia10
The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome10
Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR10
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study10
The genomic landscape of pediatric rheumatology disorders in the Middle East10
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes10
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR10
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest9
Genome sequencing in congenital cataracts improves diagnostic yield9
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery9
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients9
Integrated multi‐omics data analyses for exploring the co‐occurring and mutually exclusive gene alteration events in colorectal cancer9
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance9
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders9
Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features9
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals9
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing9
Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes9
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