Human Mutation

Article	Citations
Variant interpretation using population databases: Lessons from gnomAD	169
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines	99
A mutation update for the FLNC gene in myopathies and cardiomyopathies	85
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation	82
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants	70
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period	54
Benchmarking deep learning splice prediction tools using functional splice assays	53
The human ATP‐binding cassette (ABC) transporter superfamily	42
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants	33
Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers	32
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia	30
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6	30
Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting	30
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review	29
Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer	29
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements	28
GRIN database: A unified and manually curated repertoire of GRIN variants	28
The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis	27
GATA2 deficiency syndrome: A decade of discovery	27
The EAHAD blood coagulation factor VII variant database	27
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain	26
Qatar genome: Insights on genomics from the Middle East	25
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians	25
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial	25
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders	24

A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing	24
seqr : A web‐based analysis and collaboration tool for rare disease genomics	24
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	24
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars	24
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development	23
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	23
Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20	23
TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population	23
LEAP: Using machine learning to support variant classification in a clinical setting	22
Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy	22
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides	22
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia	21
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling	21
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	20
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
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	20
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling	20
Clinical exome sequencing—Mistakes and caveats	19
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)	19
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification	19
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
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	18
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel	18
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	18
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the firstGATA3mutations	18
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses	18
CACNA1H variants are not a cause of monogenic epilepsy	17
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome	17
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)	17
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10	17
Mutation prevalence tables for hereditary cancer derived from multigene panel testing	17
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome	16
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish	16
Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort	16
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature	16
CNGB1 ‐related rod‐cone dystrophy: A mutation review and update	15
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases	15
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome	15
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A	15
The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy	15
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	15
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )	15
SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data	15
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type	15
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease	14
Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding	14
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	14
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity	14

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	14
Identification of SRSF10 as a regulator of SMN2 ISS‐N1	14
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines	14
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy	14
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome	13
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	13
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	13
Actionable genomic variants in 6045 participants from the Qatar Genome Program	13
ZMYND11 ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum	13
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions	13
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders	13
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia	13
Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects	13
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	13
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome	13
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders	13
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease	12
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases	12
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	12
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR	12
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splici	12
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation	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
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project	12
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants	12
Epidemiological aspects of hereditary fructose intolerance: A database study	12
Clinical and laboratory interpretation of mitochondrial mRNA variants	11
Identification of missense MAB21L1 variants in microphthalmia and aniridia	11
The genomic landscape of pediatric rheumatology disorders in the Middle East	11
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	11
Integrated multi‐omics data analyses for exploring the co‐occurring and mutually exclusive gene alteration events in colorectal cancer	11
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome	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
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	11
Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss	11
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	11
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR ‐ and EDA ‐associated nonsyn	11
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	11
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
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database	10
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria	10
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients	10
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance	10
A survey of current methods to detect and genotype inversions	10
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes	10
Cytogenetically visible inversions are formed by multiple molecular mechanisms	10
The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome	10
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers	10
Genome sequencing in congenital cataracts improves diagnostic yield	10
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions	10
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	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
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy	10
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	10
Novel biallelic mutations inSLC26A8cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease	9
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	9
MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing	9
Int22h1/Int22h2 ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features	9
Mutation update for the ACTN2 gene	9
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	9
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay	9
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals	9
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	9
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	9
SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression	8
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	8
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	8
Exome sequencing identifies the first genetic determinants of sirenomelia in humans	8
An expanded phenotype centric benchmark of variant prioritisation tools	8
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	8
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate	8
Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions	8
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence	8
Clinical whole‐genome sequencing in cancer diagnosis	8
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome	8
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	8

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficienc	8
An update on genetic variants of theNKX2‐5	8
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	8
Relationship of DUX4 and target gene expression in FSHD myocytes	8
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model	8
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	8
Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth	8
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	8
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy	8
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions	8
CHM mutation spectrum and disease: An update at the time of human therapeutic trials	8
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder	8
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	8
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing	8
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India	8
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	7
Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database	7
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants	7
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	7
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I	7
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7	7
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	7
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy	7
Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases	7
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss	7
Rapid genome sequencing for pediatrics	7
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	7
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus	7
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications	7
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	7
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	7
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	7
Characterization of intellectual disability and autism comorbidity through gene panel sequencing	7
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency	7
Variant calling: Considerations, practices, and developments	7
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	7
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis	6
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria	6
Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria	6
Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs	6
A global analysis of the reconstitution of PTEN function by translational readthrough ofPTENpathogenic premature termination codons	6
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	6
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	6
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever	6
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases	6
Harmonizing variant classification for return of results in the All of Us Research Program	6
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome	6
Identification of pathogenic variants ofERLEC1in individuals with Class III malocclusion by exome sequencing	6
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	6
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease	6
Machine learning models for accurate prioritization of variants of uncertain significance	6
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	6
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	6
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects	6
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy	6
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective	6
New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1	6
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease	6
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	6
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency	6
New variants and in silico analyses in GRK1 associated Oguchi disease	6
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accura	6
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	6
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus	6
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	6
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	6
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases	6
A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B‐AS1	6
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	6
Destabilization of mutated human PUS3 protein causes intellectual disability	6
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET	5
5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity	5
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome	5
Variants of human CLDN9 cause mild to profound hearing loss	5
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	5
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	5
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR	5
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation	5
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes	5
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project	5
YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research	5
Functional and clinical implications of genetic structure in 1686 Italian exomes	5
USF3 modulates osteoporosis risk by targeting WNT16 , RANKL , RUNX2 , and two GWAS lead	5
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	5
Comprehensive characterization of Alu ‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL fami	5
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer‐related genes	5
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity	5
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type	5
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	5
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research	5
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention	5
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	5
Biallelic variants in RNU12 cause CDAGS syndrome	5
A decade of RAD51C and RAD51D germline variants in cancer	5
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function	5