Journal of Human Genetics

Article	Citations
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	156
GPD1 deficiency—a rare, overlooked cause of liver disease	130
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	116
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy	53
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport	43
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies	40
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	35
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	29
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	27
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	25
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	24
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	17
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing	17
Acknowledgment to the reviewers in 2024	16
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	16
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	15
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	15
Evidence for nonhomologous meiotic coorientation in man	14
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	14
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study	14
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals	14
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	14
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss	13
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	13
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review	13

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle	12
Interaction between human oxoguanine glycosylase 1 gene polymorphisms and smoking status on nasopharyngeal carcinoma risk	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	12
The genetic architecture of age at menarche and its causal effects on other traits	12
Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing	11
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood	11
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation	11
Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping	11
Analysis of LIN28A variants in patients with Parkinson’s disease	11
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	11
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene	11
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
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model	10
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate	10
Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models	10
Correction: Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	10
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy	9
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern	9
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings	9
Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?	9
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency	8
Mosaic deletions detected by genome sequencing in two families	8
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing	8
CDiP technology for reverse engineering of sporadic Alzheimer’s disease	8
Assessment of whole-exome sequencing results in neurogenetic diseases	8
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	8
Hemizygous SMARCA1 variants cause X-linked intellectual disability	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
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data	8
Heterogeneity of the Southeast Belarusian mitochondrial gene pool	8
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C	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
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort	7
Somatic and mosaic HRAS mutations in pediatric malignant ectomesenchymoma	7
Patterns and distribution of de novo mutations in multiplex Middle Eastern families	7
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population	7
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	7
Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG	7
Heritability of complex traits in sub-populations experiencing bottlenecks and growth	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
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants	7
Enhanced multi-FISH analysis of immunophenotyped plasma cells by imaging flow cytometry	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	6
Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families	6
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome	6
On the modelling of variance components in classical twin studies	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –	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
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome	6
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk	6
Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer	6
Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analyses	6
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies	6
Clinical and molecular characteristics of Korean patients with Kabuki syndrome	6
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers	6
Molecular genetics of dystrophinopathy	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
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures	6
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms	6
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	6
Galactose mutarotase deficiency as the galactosemia type IV	6
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	6
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan	6
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia	6
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2	5
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesis	5
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism	5
Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases	5
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array data	5
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay	5
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia	5
When ganglioside pathways go awry: congenital disorders and experimental insights	5
Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish	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
INTS11-related neurodevelopmental disorder: a case report and literature review	5
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias	5
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	5
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort	5
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome	5
Triple mosaic variants of PURA in a patient with multiple congenital anomalies	5
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?	5
A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia	5
Artificial intelligence in medical genomics	5
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
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank	4
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation	4
Whole-genome sequencing of 1029 Indian individuals reveals unique and rare structural variants	4
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology	4
Genetics of neurological and psychiatric disorders	4
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1	4
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals	4
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons	4
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss	4
The prevalence of laterality defects in patients with congenital heart disease	4
Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes	4
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome	4
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans	4
Genetic association mapping leveraging Gaussian processes	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
Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia	4
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	4
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago	4
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients	4
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis	4
The composition dynamics of transposable elements in human blastocysts	4
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility	3
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK	3
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals	3
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10	3
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing	3
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients	3
Significance of noninvasive prenatal testing using massively parallel sequencing in women with twin or vanishing twin pregnancies	3
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients	3
Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders	3
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study	3
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient	3
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review	3
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings	3
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model	3
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	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
Acknowledgment to the reviewers in 2025	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
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank	3

Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan	3
Expanding the phenotypic spectrum of LAMA2-related disorders: Axonal neuropathy in the absence of muscular dystrophy	3
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle	3
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance	3
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling	3
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations	3
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia	3
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction	3
Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data	3
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population	3
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing	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
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families	3
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts	3
Molecular genetics and therapeutic development for GNE myopathy	3
Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene	3
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescents	3
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy	3
Expanding the phenotypic spectrum and clinical severity associated with WLS gene	3
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong	3
Comparison of two families with and without ataxia harboring novel variants in PRKCG	3
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder	3
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A	3
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	2
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7	2
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration	2
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population	2
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications	2
Two-decade trends in prenatal genetic testing in Japan	2
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay	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
GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study	2
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population	2
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family	2
Molecular genetics of skeletal muscle channelopathies	2
A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome	2
Modern descendants of Kyordyughen warrior (Yakutia, 4200 years before present) in populations of Far East	2
Association of MPPED2 gene variant rs10767873 with kidney function and risk of cardiovascular disease in patients with hypertension	2
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review	2
Genome analysis through image processing with deep learning models	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
In memory of Professor Ichiro Matsuda	2
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	2
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	2
A mediation analysis framework based on variance component to remove genetic confounding effect	2
Fundamentals for predicting transcriptional regulations from DNA sequence patterns	2
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype	2
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy	2
Genetics of brain arteriovenous malformations and cerebral cavernous malformations	2
Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities	2
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study	2
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders	2
A new association of PAX6 variation with Juvenile onset open angle glaucoma	2
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant	2
Correction: Genetics of autism spectrum disorders and future direction	2
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk	2
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing	2
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor	2
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests	2
Mendelian randomization study on the causal effects of systemic lupus erythematosus on major depressive disorder	2
Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients	2
Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing	2
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins	2
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer	2
Inferring intelligence of ancient people based on modern genomic studies	2
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	2
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G	2
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility	2
Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphoma	2
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation	2
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis	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
Advances in AI and machine learning for predictive medicine	2
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases	2
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia	2
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study	2
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis	2
Development of a zebrafish model of Loeys–Dietz syndrome through tgfbr2b knockdown	2
Bidirectional Mendelian randomization of leukocyte counts, renal function, and Lipocalin-2 Levels: disentangling the genetic links, causal pathways and cardiovascular outcomes	2
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts	2
JHG Young Scientist Award 2023	2
Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations	2
Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency	2