Journal of Human Genetics

Article	Citations
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	758133037
SARS-CoV-2 genomic variations associated with mortality rate of COVID-19	281
Bioinformatic prediction of potential T cell epitopes for SARS-Cov-2	114
A review of UMAP in population genetics	71
Unique roles of rare variants in the genetics of complex diseases in humans	71
Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration	57
Cancer-associated miRNAs and their therapeutic potential	49
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease	38
Molecular genetics of Parkinson’s disease: Contributions and global trends	37
Interpretation of omics data analyses	37
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	36
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype	34
Identification of epigenetic interactions between microRNA and DNA methylation associated with polycystic ovarian syndrome	31
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia	30
Deep neural network improves the estimation of polygenic risk scores for breast cancer	29
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification	29
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint	28
RNA sequencing-based microRNA expression signature in esophageal squamous cell carcinoma: oncogenic targets by antitumor miR-143-5p and miR-143-3p regulation	28
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease	28
Multi-omics study for interpretation of genome-wide association study	27
Practical guide for managing large-scale human genome data in research	27
Association of an IGHV3-66 gene variant with Kawasaki disease	26
Single-cell genomics to understand disease pathogenesis	25
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	25

Papuan mitochondrial genomes and the settlement of Sahul	23
Personalized medicine for cardiovascular diseases	22
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing	22
Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients	22
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin	21
Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies	21
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms	21
Three-dimensional genome: developmental technologies and applications in precision medicine	21
Aberrant expression of a novel circular RNA in pancreatic cancer	20
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies	19
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China	19
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships	19
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations	19
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4	19
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses	19
The genetic architecture of schizophrenia: review of large-scale genetic studies	17
Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals	17
Genomic landscape of hepatocarcinogenesis	17
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures	17
Regulation of aberrantly expressed SERPINH1 by antitumor miR-148a-5p inhibits cancer cell aggressiveness in gastric cancer	17
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis	17
Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population	16
Newborn screening of mucopolysaccharidoses: past, present, and future	16
Whole exome sequencing of fetal structural anomalies detected by ultrasonography	16
Artificial intelligence powered statistical genetics in biobanks	16
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy	15
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy	15
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan	15
Clinical implementation and current advancement of blood liquid biopsy in cancer	15
Clinical genetics of Charcot–Marie–Tooth disease	15
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms	15
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient	15
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R	15
Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes	14
Clinical and molecular spectra of BRAF-associated RASopathy	14
Clinical and genetic variability of PAX2-related disorder in the Japanese population	14
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia	13
Modeling colorectal cancer evolution	13
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy	13
Strong association between the 12q24 locus and sweet taste preference in the Japanese population revealed by genome-wide meta-analysis	13
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population	13
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction	13
Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis?	12
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation	12
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review	12
Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public	12
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia	12
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population	12
Genetics of Alzheimer’s disease: an East Asian perspective	12
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability	11

Epigenetic silencing of heat shock protein 70 through DNA hypermethylation in pseudoexfoliation syndrome and glaucoma	11
Willingness to participate in genome testing: a survey of public attitudes from Qatar	11
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome	11
Phylogenetic analysis of the Y-chromosome haplogroup C2b-F1067, a dominant paternal lineage in Eastern Eurasia	11
Application of targeted nanopore sequencing for the screening and determination of structural variants in patients with Lynch syndrome	11
GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesity	11
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes	11
A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia	10
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes	10
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients	10
A review of major causative genes in congenital myopathies	10
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes	10
Genetics of autism spectrum disorders and future direction	10
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A	10
Bardet–Biedl syndrome and related disorders in Japan	9
Immunogenomics in personalized cancer treatments	9
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago	9
Medieval Super-Grandfather founder of Western Kazakh Clans from Haplogroup C2a1a2-M48	9
Genetic background in late-onset sensorineural hearing loss patients	9
Association of ABCG1 gene methylation and its dynamic change status with incident type 2 diabetes mellitus: the Rural Chinese Cohort Study	9
Genome-wide association study of semen volume, sperm concentration, testis size, and plasma inhibin B levels	9
Genome-wide association study identifies zonisamide responsive gene in Parkinson’s disease patients	9
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia	9
An NGS-based genotyping in LQTS; minor genes are no longer minor	9
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature	9
Novel biallelic mutations in PADI6 in patients with early embryonic arrest	8
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia	8
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease	8
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment	8
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders	8
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing	8
Functional genomics for breast cancer drug target discovery	8
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry data	8
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability	8
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder	8
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome	8
Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations	8
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)	7
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant	7
Aggressive periodontitis and NOD2 variants	7
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins	7
Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people	7
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1	7
Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation	7
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders	7
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels	7
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing	7
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations	7
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review	7
Y-chromosome evidence confirmed the Kerei-Abakh origin of Aksay Kazakhs	7
Genetics of autosomal mosaic chromosomal alteration (mCA)	7
Novel variants causing megalencephalic leukodystrophy in Sudanese families	7
Further delineation of KIF21B-related neurodevelopmental disorders	6
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time	6
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project	6
Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis	6
Phenotypic implications of pathogenic variant types in Pompe disease	6
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex	6
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy	6
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings	6
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis	6
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features	6
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	6
Two novel TCTN2 mutations cause Meckel–Gruber syndrome	6
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia	6
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype	6
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study	6
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype	6
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism	6
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease	5
Potential causal association of a prolonged PR interval and clinical recurrence of atrial fibrillation after catheter ablation: a Mendelian randomization analysis	5
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism	5
A genotype-first analysis in a cohort of Mullerian anomaly	5
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	5
Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy	5
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients	5
Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation	5
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients	5
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene	5
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability	5

Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancer	5
The first Japanese case of primary familial brain calcification caused by an MYORG variant	5
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	5
Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms	5
BCS1L mutations produce Fanconi syndrome with developmental disability	5
“Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes”	5
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation	5
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay	5
Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan	5
Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection	5
ALOX12 mutation in a family with dominantly inherited bleeding diathesis	5
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population	5
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population	5
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer	5
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways	5
Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects	5
Identification of ancient viruses from metagenomic data of the Jomon people	5
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families	5
Study of genetic correlation between children’s sleep and obesity	4
Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment	4
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	4
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing	4
Novel CLTC variants cause new brain and kidney phenotypes	4
Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test	4
Analysis of genetic risk factors in Japanese patients with Parkinson’s disease	4
Identifying potential functional lncRNAs in metabolic syndrome by constructing a lncRNA–miRNA–mRNA network	4
Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results	4
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience	4
Admixture mapping of anthropometric traits in the Black Women’s Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes	4
Bypass of premature stop codons and generation of functional BRCA2 by exon skipping	4
Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan	4
Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels	4
Dual origins of the Northwest Chinese Kyrgyz: the admixture of Bronze age Siberian and Medieval Niru’un Mongolian Y chromosomes	4
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments	4
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing	4
Data-driven comparison of multiple high-dimensional single-cell expression profiles	4
Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome	4
A forward selection algorithm to identify mutually exclusive alterations in cancer studies	4
Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India	4
Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan	4
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes	4
A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases	4
Incidence of contralateral and ipsilateral breast cancers and prognosis in BRCA1/2 pathogenic variant carriers based on the Japanese HBOC Consortium registration	4
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype	4
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholders	4
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy	4
Identification of OPN3 as associated with non-syndromic oligodontia in a Japanese population	4
A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion	4
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review	4
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes	4
Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants	4
APOBEC mediated mutagenesis drives genomic heterogeneity in endometriosis	3
Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition	3
Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass	3
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome	3
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants	3
Y chromosome analysis for common surnames in the Japanese male population	3
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome	3
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome	3
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia	3
Participant mothers’ attitudes toward genetic analysis in a birth cohort study	3
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	3
The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan	3
Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease	3
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	3
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants	3
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene	3
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3	3
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development	3
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome	3
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report	3
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia	3
Cancer predisposition genes in Japanese children with rhabdomyosarcoma	3
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies	3
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia	3
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis	3
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake	3
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia	3
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligo	3
Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan	3
Secondary findings in 622 Turkish clinical exome sequencing data	3
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study	3
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13	3
Helicobacter pylori and gastric cancer risk in BRCA 1/2 pathogenic germline variant carriers	3
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations	3
Cis-regulated expression of non-conserved lincRNAs associates with cardiometabolic related traits	3
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case	3
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data	3
A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family	3
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy	3
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis	3
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays	3
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	3
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan	3
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	3