Journal of Human Genetics

Article	Citations
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	158
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport	42
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	32
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	30
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	27
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy	25
GPD1 deficiency—a rare, overlooked cause of liver disease	18
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	18
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	18
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	17
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies	17
Acknowledgment to the reviewers in 2024	16
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	16
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	15
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	15
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	15
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing	15
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	14
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study	13
Evidence for nonhomologous meiotic coorientation in man	13
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	12
Towards sustainable hereditary breast and ovarian cancer surveillance: insights from a single-center survey	12
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	12
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	12
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	12

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1	11
Interaction between human oxoguanine glycosylase 1 gene polymorphisms and smoking status on nasopharyngeal carcinoma risk	11
Analysis of LIN28A variants in patients with Parkinson’s disease	11
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	11
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	11
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	11
The genetic architecture of age at menarche and its causal effects on other traits	11
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	11
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	11
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate	10
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	10
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	10
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	9
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	9
Transfer RNA-derived small RNAs: from biogenesis to regulatory roles in male reproductive system	9
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	9
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?	9
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	9
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	9
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data	9
Mosaic deletions detected by genome sequencing in two families	8
Hemizygous SMARCA1 variants cause X-linked intellectual disability	8
Novel variants in LINC and TTM complexes of meiotic chromosome dynamics are associated with meiotic arrest and non-obstructive azoospermia	8
Assessment of whole-exome sequencing results in neurogenetic diseases	8
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	8
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	8
A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and BRCA2	8
Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan	8
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	8
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	8
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	7
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	7
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	7
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	7
Implementation of comprehensive genome analysis in clinical sequencing at an academic institution	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	7
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	7
Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family	7
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	7
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	7
Heritability of complex traits in sub-populations experiencing bottlenecks and growth	7
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	7
Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing	7
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures	7
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population	7
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	7
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	6
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan	6

Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analyses	6
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	6
When ganglioside pathways go awry: congenital disorders and experimental insights	6
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	6
Molecular genetics of dystrophinopathy	6
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort	6
Galactose mutarotase deficiency as the galactosemia type IV	6
A novel USP27X missense variant identified in an individual with intellectual disability	6
Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
On the modelling of variance components in classical twin studies	6
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia	5
INTS11-related neurodevelopmental disorder: a case report and literature review	5
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	5
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	5
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	5
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	5
A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature	5
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome	5
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	5
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	5
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	5
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	5
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	5
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	5
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	5
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	5
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?	5
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	5
The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI	5
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	4
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	4
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	4
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	4
The prevalence of laterality defects in patients with congenital heart disease	4
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	4
The composition dynamics of transposable elements in human blastocysts	4
Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy	4
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	4
Genetics of neurological and psychiatric disorders	4
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	4
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	4
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1	4
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	4
Genetic association mapping leveraging Gaussian processes	4
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
Artificial intelligence in medical genomics	4
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients	4
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient	4
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	4
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders	4
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescents	4
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	4
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	4
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion	4
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK Biobank	4
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-	4
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank	4
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	4
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review	4
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	4
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	3
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	3
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	3
Molecular genetics and therapeutic development for GNE myopathy	3
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	3
A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient	3
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene	3
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A	3

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	3
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	3
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay	3
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history	3
Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities	3
Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphoma	3
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications	3
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	3
Acknowledgment to the reviewers in 2025	3
HOXB13, a high-risk prostate cancer gene, also confers risk for breast cancer: novel variants of clinical significance, especially in hormone-positive patients	3
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	3
A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review	3
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	3
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	3
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	3
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing	3
Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches	3
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	3
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	3
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	3
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan	3
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	3
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	3
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	3
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle	3
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	3
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	3
Correction: A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient	3
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders	3
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families	3
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	3
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
Systematic analyses of GWAS summary statistics from UK Biobank identified novel susceptibility loci and genes for upper gastrointestinal diseases	2
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant	2
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	2
Molecular genetics of skeletal muscle channelopathies	2
Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency	2
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	2
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	2
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	2
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	2
Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies	2
JHG Young Scientist Award 2023	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view	2
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets	2
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	2
Advances in AI and machine learning for predictive medicine	2
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	2
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	2
Correction: Genetics of autism spectrum disorders and future direction	2
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	2
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
Two-decade trends in prenatal genetic testing in Japan	2
A new association of PAX6 variation with Juvenile onset open angle glaucoma	2
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis	2
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	2
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing	2
Genome analysis through image processing with deep learning models	2
Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing	2
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility	2
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	2
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype	2
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population	2
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	2
Development of a zebrafish model of Loeys–Dietz syndrome through tgfbr2b knockdown	2
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	2
In memory of Professor Ichiro Matsuda	2
A mediation analysis framework based on variance component to remove genetic confounding effect	2
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2	2
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease	2
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	2