Human Mutation

Article	Citations
Variant interpretation using population databases: Lessons from gnomAD	265
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation	94
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants	92
Benchmarking deep learning splice prediction tools using functional splice assays	64
The human ATP‐binding cassette (ABC) transporter superfamily	62
seqr : A web‐based analysis and collaboration tool for rare disease genomics	39
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders	38
GATA2 deficiency syndrome: A decade of discovery	37
Qatar genome: Insights on genomics from the Middle East	37
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial	37
GRIN database: A unified and manually curated repertoire of GRIN variants	35
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer	35
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians	32
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	31
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development	30
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing	29
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	29
Clinical exome sequencing—Mistakes and caveats	28
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	27
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	26
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	26
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification	26
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B	23
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	23
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy	23

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome	22
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome	22
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	22
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease	22
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 Panel	22
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses	21
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening	21
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	21
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 heterotaxy	20
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders	20
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	20
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	19
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10	19
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	19
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish	18
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature	18
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	17
CNGB1 ‐related rod‐cone dystrophy: A mutation review and update	17
Actionable genomic variants in 6045 participants from the Qatar Genome Program	17
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	16
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	16
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project	16
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome	16
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	15
Identification of SRSF10 as a regulator of SMN2 ISS‐N1	15
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease	15
Epidemiological aspects of hereditary fructose intolerance: A database study	15
Variant calling: Considerations, practices, and developments	15
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome	15
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	14
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function	14
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome	14
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	14
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splici	14
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation	14
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	14
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	14
Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR	14
Mutation update for the ACTN2 gene	14
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	13
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases	13
The genomic landscape of pediatric rheumatology disorders in the Middle East	13
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing	13
Identification of missense MAB21L1 variants in microphthalmia and aniridia	13
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers	13
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing	13
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	12
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model	12

NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	12
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	12
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria	12
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	12
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance	12
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	12
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	12
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus	12
Novel biallelic mutations inSLC26A8cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease	12
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR	12
Genome sequencing in congenital cataracts improves diagnostic yield	12
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	12
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence	11
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	11
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	11
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes	11
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases	11
A decade of RAD51C and RAD51D germline variants in cancer	11
Destabilization of mutated human PUS3 protein causes intellectual disability	11
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	11
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	11
Rapid genome sequencing for pediatrics	11
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals	11
A survey of current methods to detect and genotype inversions	11
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	11
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	11
CHM mutation spectrum and disease: An update at the time of human therapeutic trials	11
Relationship of DUX4 and target gene expression in FSHD myocytes	11
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases	10
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder	10
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	10
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	10
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications	10
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	10
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	10
Harmonizing variant classification for return of results in the All of Us Research Program	10
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	10
WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly	9
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency	9
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	9
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease	9
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	9
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency	9
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7	9
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy	9
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome	9
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	9
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss	9
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	9
Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions	9
Clinical whole‐genome sequencing in cancer diagnosis	9
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	9
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	8
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking	8
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy	8
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus	8
SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression	8
A global analysis of the reconstitution of PTEN function by translational readthrough ofPTENpathogenic premature termination codons	8
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficienc	8
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I	8
An expanded phenotype centric benchmark of variant prioritisation tools	8
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer‐related genes	8
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome	8
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants	8
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum	8
New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1	8
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	8
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders	7
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions	7
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth	7
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	7
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accura	7
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	7
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism	7
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects	7
A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants	7
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency	7
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	7
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	7
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	7

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	7
Molecular landscape ofDYSFmutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective	7
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease	7
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria	7
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	7
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	6
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	6
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever	6
Biallelic variants in RNU12 cause CDAGS syndrome	6
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	6
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	6
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type	6
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis	6
Machine learning models for accurate prioritization of variants of uncertain significance	6
DNAH14 variants are associated with neurodevelopmental disorders	6
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	6
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy	6
	6
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project	6
Comprehensive characterization of Alu ‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL fami	6
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research	6
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	6
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing	6
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	6
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease	6
MicroRNA binding site variation is enriched in psychiatric disorders	6
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET	6
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	6
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	6
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B‐AS1	6
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome	6
New variants and in silico analyses in GRK1 associated Oguchi disease	6
USF3modulates osteoporosis risk by targetingWNT16,RANKL,RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631	6
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	5
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	5
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	5
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	5
Mutation update: The spectra of PLEC sequence variants and related plectinopathies	5
PhenomeCentral: 7 years of rare disease matchmaking	5
Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood	5
Detection and validation of novel mutations inMERTKin a simplex case of retinal degeneration using WGS and hiPSC–RPEs model	5
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy	5
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma	5
Functional and clinical implications of genetic structure in 1686 Italian exomes	5
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones	5
Variants of human CLDN9 cause mild to profound hearing loss	5
Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility	5
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	5
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression	5
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis	5
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes	5
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	5
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention	5
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder	5
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A	5
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	5
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants re	5
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2	5
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	5
Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants	5
Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer	5
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity	5
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	5
YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research	5
Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study	4
Generation and mutational analysis of a transgenic mouse model of humanSRY	4
Extending the allelic spectrum at noncoding risk loci of orofacial clefting	4
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease	4
Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing	4
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and c	4
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction	4
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20	4
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	4
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy	4
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability	4
Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1	4
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	4
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	4
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	4
	4
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes	4
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	4