3billion Inc.
KOSDAQ-listed genomic diagnostics company offering AI-driven rare-disease genetic testing and the GEBRA interpretation software.
As of 2026-10-11, 3billion Inc. has 1 Korean MFDS device approval, 155 PubMed-indexed papers on record (counted by the MAA Company Index from its own matching of public databases).
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Business overview
Source: DART corporate disclosureFounded in 2016 and listed on KOSDAQ in 2024, 3billion is a rare-disease genetic diagnostics company built on AI technology. It provides WGS (whole genome sequencing) and WES (whole exome sequencing)-based rare-disease diagnostic testing as Full service, data-based diagnostic testing, and disease-specific diagnostic testing, and launched its genetic variant interpretation software GEBRA as a SaaS product in April 2025. It generates revenue in 75 countries, achieving KRW 11.7 billion in revenue in 2025 (67.4% overseas), established its US subsidiary 3billion US, Inc. in October 2025, and employs 52 R&D staff, or 51.5% of its total workforce.
Products & technology
- Full serviceEnd-to-end rare disease genetic testing from sample collection through sequencing, interpretation, and reporting
- Data-based diagnostic testRare disease diagnostic testing excluding sample collection and sequencing
- Disease-specific diagnostic testDiagnostic testing for a specific disease and related disease groups
- GEBRASaaS software for genetic variant interpretation
Regulatory approvals
data.go.kr1 Korean MFDS device approvals · 2020
- MFDSTool for specimens2020-09-07Product approval · Class 1수신 20-2118 호
R&D and key agreements
Source: DART corporate disclosureAI 신약개발 플랫폼 · 다양한 질환(신규타겟 발굴 등) · 전임상 단계 검증 · Target discovery, binding pocket discovery, and hit compound exploration; aims for licensing-out to pharma partners for joint clinical development
Key disclosures
KRX KIND via OpenDARTPublications
PubMed · affiliation-matched- De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.
Molecular psychiatry · 2026-09 · Deb W, Besnard T, Desprez F 외 55
- From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Journal of child neurology · 2026-09 · Corbaz S, Pibernus DA, Loos MA 외 10
- Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
The Journal of clinical investigation · 2026-08 · Wang Q, Sobering AK, Tirrito C 외 55
- Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing.
Annals of laboratory medicine · 2026-08 · Jang MA, Jang JH, Kim JK 외 5
- Novel Compound Heterozygous NNT Variants in Familial Glucocorticoid Deficiency Type 4 Diagnosed by Whole Genome Sequencing.
Annals of clinical and laboratory science · 2026-07 · Cho WK, Jang S, Youn E 외 1
- Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.
Clinical genetics · 2026-07 · Caramizaru A, Durac C, Dumitrescu A 외 14
- The importance and clinical utility of reanalysis of exome and genome sequencing data.
Kidney research and clinical practice · 2026-07 · Moon D, Seo GH
- The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis.
Childhood kidney diseases · 2026-06 · Jang S, Lee H
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.
BMC pediatrics · 2026-06 · Othman AA, Sadek AA, Aladawy MA 외 14
- MLIP-Related Myopathy: Two Unreported Pathogenic Variants - A Case Report.
Molecular syndromology · 2026-06 · López-Pérez LG, Youn E, Kim H 외 4
Show 145 more publications
- COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
Nature communications · 2026-05 · Falabella M, Lopez Calcerrada S, Aref J 외 40
- A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.
Journal of medical case reports · 2026-05 · Mir A, Abbasi Z, Song Y 외 6
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.
Scientific reports · 2026-05 · Ramzan M, Idrees H, Khan H 외 25
- EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Brain : a journal of neurology · 2026-05 · Ghosh S, Singh J, Damseh NS 외 31
- Expanding the Clinical and Genetic Landscape of UQCRC2-related Mitochondrial Complex III Deficiency: A Case Report and Literature Review.
Current pediatric reviews · 2026-05 · Bindi V, Crespo C, García F 외 4
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.
Clinical and experimental pediatrics · 2026-05 · Lee KS, Oh SH, Lee JY 외 4
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.
Children (Basel, Switzerland) · 2026-05 · Zisi A, Kostoulas C, Sesse A 외 5
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.
Molecular and cellular pediatrics · 2026-04 · Szumutku F, Lengyel A, Pinti É 외 15
- NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
American journal of medical genetics. Part A · 2026-04 · Garcia RV, Aráoz HV, Pérez MM 외 9
- Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Journal of human genetics · 2026-03 · Hwang S, Bae H, Kim D 외 11
- Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.
BMC neurology · 2026-02 · Tafakhori A, Sarvestani Z, Kariminejad A 외 4
- Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.
The Journal of clinical endocrinology and metabolism · 2026-02 · Lee Y, Jeong HR, Kim EY 외 13
- Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.
Scientific reports · 2026-02 · Butt AI, Bazai FK, Kakar K 외 4
- Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.
Human mutation · 2026-01 · Malfatti E, Caramizaru A, Trentin F 외 13
- Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.
Case reports in neurological medicine · 2026-01 · Kostopoulou E, Lagadinou M, Karatza A 외 3
- Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.
Cardiovascular diagnosis and therapy · 2025-12 · Ryu SW, Jang S, Son JW 외 10
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
International journal of molecular sciences · 2025-12 · Villafán-Bernal JR, Rosas-Hernández J, García-Ortiz H 외 8
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
NPJ genomic medicine · 2025-12 · Lee S, Seo GH, Kim SY 외 15
- Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
European journal of human genetics : EJHG · 2025-10 · Karakaya M, Ragab I, Riehmer V 외 8
- Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient.
Journal of clinical immunology · 2025-10 · Edwards ESJ, Chatelier J, Snell GI 외 5
- Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.
Molecular genetics and metabolism reports · 2025-09 · Vela-Amieva M, Fernández-Lainez C, Guillén-López S 외 9
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.
International journal of molecular sciences · 2025-08 · Alcántara-Ortigoza MA, Vela-Amieva M, González-Del Angel A 외 13
- A programmed decline in ribosome levels governs human early neurodevelopment.
Nature cell biology · 2025-08 · Ni C, Wei Y, Vona B 외 53
- An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.
American journal of medical genetics. Part A · 2025-08 · Elsayed S, Elmakkawy GA, Abdelrazek IM 외 5
- Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.
Clinical and translational medicine · 2025-07 · Hwang S, Seo GH, Choi IH 외 26
- Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.
American journal of medical genetics. Part A · 2025-07 · Corona-Rivera JR, Cortés-Pastrana RC, Navia-Espinoza N 외 7
- Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Clinical genetics · 2025-06 · Essid M, Karoui S, Zribi M 외 15
- Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025-06 · Spiliopoulos KC, Veltsista D, Veltsou E 외 5
- Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Molecular medicine (Cambridge, Mass.) · 2025-05 · Ngo KJ, Wong DY, Huang AY 외 3
- Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Journal of human genetics · 2025-05 · Kim D, Yoon JH, Bae H 외 11
- In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing.
Genes & diseases · 2025-05 · Kim JA, Kim BJ, Lee C 외 7
- Secondary findings in 443 exome sequencing data.
Annals of human genetics · 2025-05 · Branković M, Han H, Janković M 외 7
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Brain : a journal of neurology · 2025-04 · Aughey GN, Cali E, Maroofian R 외 53
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Genetics in medicine : official journal of the American College of Medical Genetics · 2025-04 · Cali E, Quirin T, Rocca C 외 126
- Critical assessment of missense variant effect predictors on disease-relevant variant data.
Human genetics · 2025-03 · Rastogi R, Chung R, Li S 외 33
- Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Annals of hematology · 2025-03 · Elbadry MI, Abdelkreem E, Tawfeek A 외 2
- Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Human genetics · 2025-03 · Chen Y, Lee K, Woo J 외 20
- 46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature review.
Hormones (Athens, Greece) · 2025-03 · Kostopoulou E, Eliades A, Papatheodoropoulou A 외 6
- ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
European journal of human genetics : EJHG · 2025-03 · Karakaya M, Ragab I, Riehmer V 외 8
- The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.
Hormones (Athens, Greece) · 2025-03 · Karantza M, Lee H, Kitsiou S 외 4
- Correction: whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
BMC medical genomics · 2025-02 · Mir A, Song Y, Lee H 외 4
- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Clinical genetics · 2025-02 · Malfatti E, Caramizaru A, Lee H 외 18
- Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.
Cornea · 2025-02 · Raber IM, Khalili A, Khang R 외 5
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
NPJ genomic medicine · 2025-01 · Han H, Seo GH, Hyun SI 외 14
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Molecular genetics & genomic medicine · 2025-01 · Lee H, Moon D, Khang R 외 5
- Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
Human mutation · 2025-01 · Khang R, Lee H, Kim J 외 23
- Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea.
Journal of Korean medical science · 2024-12 · Gwak SY, Seo J, Seo GH 외 7
- Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
Human genetics · 2024-12 · Cortés-González V, Rodriguez-Morales M, Ataliotis P 외 7
- A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Journal of human genetics · 2024-12 · Holling T, Abdelrazek IM, Elhady GM 외 4
- Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.
The Journal of clinical endocrinology and metabolism · 2024-11 · Martinez-Mayer J, Vishnopolska S, Perticarari C 외 35
- A Deep Learning Model to Predict Breast Implant Texture Types Using Ultrasonography Images: Feasibility Development Study.
JMIR formative research · 2024-11 · Kim HH, Jeong WC, Pi K 외 4
- Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
International journal of molecular sciences · 2024-10 · Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A 외 11
- Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Orphanet journal of rare diseases · 2024-10 · Lakkhana P, Tim-Aroon T, Khongkraparn A 외 9
- TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
American journal of medical genetics. Part A · 2024-10 · Chacon-Camacho OF, Ordaz-Robles T, Cid-García MA 외 11
- Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Scientific reports · 2024-09 · Khan H, Muzaffar F, Salman M 외 3
- Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Journal of human genetics · 2024-09 · Yoon JH, Hwang S, Bae H 외 10
- Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
EBioMedicine · 2024-09 · Iruzubieta P, Alves CAPF, Al Shamsi AM 외 49
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Nature communications · 2024-08 · Banks E, Francis V, Lin SJ 외 81
- Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers.
Research square · 2024-07 · Chen Y, Lee K, Woo J 외 20
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Neurogenetics · 2024-07 · Brankovic M, Ivanovic V, Basta I 외 18
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.
Scientific reports · 2024-06 · Reyna-Fabián ME, Fernández-Hernández L, Enríquez-Flores S 외 5
- How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
European journal of medical genetics · 2024-06 · Mégarbané A, Mehawej C, Mahfoud D 외 6
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Journal of clinical immunology · 2024-05 · Tomomasa D, Lee BH, Hirata Y 외 20
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Molecular genetics & genomic medicine · 2024-04 · Cho JH, Hwang S, Kwak YH 외 11
- Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders.
Human genomics · 2024-03 · Kim HH, Kim DW, Woo J 외 1
- Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.
Laboratory medicine · 2024-03 · Mir A, Song Y, Lee H 외 3
- PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Human genetics · 2024-03 · Redfield SE, De-la-Torre P, Zamani M 외 14
- A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Molecular genetics & genomic medicine · 2024-03 · Song Y, Elwafa RAHA, Omar OM 외 2
- Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Annals of human genetics · 2024-03 · Lee JY, Oh SH, Keum C 외 2
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
Molecular genetics & genomic medicine · 2024-03 · Ryu SW, Yoon JH, Kim DW 외 6
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Gene · 2024-02 · Zaman Q, Khan J, Ahmad M 외 23
- Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Clinical genetics · 2024-02 · Ooi JCE, Azman A, Chan MY 외 5
- Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Frontiers in pediatrics · 2024-01 · Suh YA, Hwang J, Seo GH 외 4
- Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.
Molecular vision · 2024-01 · Seo Y, Joo K, Lee J 외 7
- Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv : the preprint server for health sciences · 2024-01 · Banks E, Francis V, Lin SJ 외 81
- Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report.
JPMA. The Journal of the Pakistan Medical Association · 2024-01 · Ko YJ, Rhie S, Baek J 외 2
- A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
Molecular genetics & genomic medicine · 2024-01 · Mir A, Song Y, Lee H 외 2
- High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.
Frontiers in cardiovascular medicine · 2024-01 · Ryu SW, Jeong WC, Hong GR 외 13
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
American journal of human genetics · 2024-01 · Salpietro V, Maroofian R, Zaki MS 외 63
- PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
medRxiv : the preprint server for health sciences · 2023-12 · Redfield SE, De-la-Torre P, Zamani M 외 14
- Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
American journal of human genetics · 2023-12 · Engal E, Oja KT, Maroofian R 외 28
- A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Molecular genetics & genomic medicine · 2023-12 · Mir A, Song Y, Lee H 외 3
- Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.
Annals of pediatric endocrinology & metabolism · 2023-12 · Kim MR, Yoo EG, Rhie S 외 2
- A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom.
Annals of human genetics · 2023-11 · Mir A, Khorram E, Song Y 외 2
- LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.
Retina (Philadelphia, Pa.) · 2023-11 · Tsai ASH, Kang EYC, Wang NK 외 4
- Fibronectin Type III Domain Containing 3B as a Potential Prognostic and Therapeutic Biomarker for Glioblastoma.
Biomedicines · 2023-11 · Kwon H, Yun M, Kwon TH 외 5
- Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
BMC medical genomics · 2023-10 · Kim MJ, Cha S, Baek JS 외 6
- Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
BMC medical genomics · 2023-10 · Mir A, Song Y, Lee H 외 4
- Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
BMC musculoskeletal disorders · 2023-09 · Ishaq T, Loid P, Ishaq HA 외 3
- Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Clinical genetics · 2023-09 · Jung J, Lee JH, Seo GH 외 12
- Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.
The Journal of allergy and clinical immunology · 2023-09 · Edwards ESJ, Ojaimi S, Ngui J 외 6
- Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
Gene · 2023-08 · Shafique A, Sultan T, Alzahrani F 외 3
- Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Molecular neurobiology · 2023-07 · Chaves LD, Carvalho LML, Tolezano GC 외 11
- Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv : the preprint server for health sciences · 2023-06 · Engal E, Oja KT, Maroofian R 외 23
- A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.
European journal of human genetics : EJHG · 2023-06 · Manzoor H, Zahid H, Emerling CA 외 5
- Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
Orphanet journal of rare diseases · 2023-05 · Chang YH, Kang EY, Liu L 외 8
- RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
EMBO molecular medicine · 2023-05 · Wong S, Tan YX, Loh AYT 외 8
- KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Molecular genetics & genomic medicine · 2023-04 · Choi Y, Choi J, Do H 외 9
- DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
Annals of clinical and laboratory science · 2023-03 · Park EG, Seo GH, Yang A
- The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.
Annals of pediatric endocrinology & metabolism · 2023-03 · Yoo S, Yoon JY, Keum C 외 1
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Frontiers in genetics · 2023-01 · Abdulkareem AA, Zaman Q, Khan H 외 12
- Congenital Stationary Night Blindness: Clinical and Genetic Features.
International journal of molecular sciences · 2022-11 · Kim AH, Liu PK, Chang YH 외 15
- Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
BMC ophthalmology · 2022-11 · Chen N, Lee H, Kim AH 외 10
- RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Human molecular genetics · 2022-10 · Paul F, Ng C, Mohamad Sahari UB 외 18
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Nature communications · 2022-10 · Mascibroda LG, Shboul M, Elrod ND 외 24
- Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
American journal of human genetics · 2022-10 · Thomas Q, Motta M, Gautier T 외 60
- Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
American journal of medical genetics. Part A · 2022-09 · Khan AU, Khan I, Khan MI 외 11
- High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
American journal of medical genetics. Part A · 2022-09 · Freire BL, Homma TK, Lerario AM 외 9
- Undiagnosed disease program in South Africa: Results from first 100 exomes.
American journal of medical genetics. Part A · 2022-09 · Moosa S, Coetzer KC, Lee E 외 1
- Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Scientific reports · 2022-07 · Kim SY, Kim BJ, Oh DY 외 7
- Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.
Medicine · 2022-07 · Choi IH, Seo GH, Park J 외 20
- A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.
Ophthalmic genetics · 2022-06 · Chiu N, Lee W, Liu PK 외 10
- A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.
Annals of clinical and laboratory science · 2022-05 · Ahn JH, Oh SH, Park JK 외 6
- Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Investigative ophthalmology & visual science · 2022-05 · Chang YH, Kang EY, Liu PK 외 11
- Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Molecular medicine (Cambridge, Mass.) · 2022-03 · Seo GH, Lee H, Lee J 외 21
- The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6.
Journal of clinical neurology (Seoul, Korea) · 2022-03 · Chung EJ, You E, Oh SH 외 4
- Clinical and genetic features of four patients with Pearson syndrome: An observational study.
Medicine · 2022-02 · Son JS, Seo GH, Kim YM 외 6
- Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion.
Clinical and experimental otorhinolaryngology · 2022-02 · Kim BJ, Jeon H, Lee SY 외 5
- Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.
Frontiers in genetics · 2022-01 · Jaffal L, Akhdar H, Joumaa H 외 8
- CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS.
Acta endocrinologica (Bucharest, Romania : 2005) · 2022-01 · Radoi VE, Pop LG, Maioru OV 외 7
- Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Frontiers in genetics · 2022-01 · Kim MJ, Yum MS, Seo GH 외 2
- Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a Sibling.
Frontiers in genetics · 2022-01 · Ha DJ, Park J, Seo GH 외 4
- A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.
European journal of medical genetics · 2022-01 · Park HS, Oh A, Keum CW 외 5
- 3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.
Bioinformatics (Oxford, England) · 2021-12 · Won DG, Kim DW, Woo J 외 1
- Development of the new microsatellite markers of Lucilia sericata (Diptera: Calliphoridae) from Korea.
Molecular biology reports · 2021-12 · An HE, Do DT, Lee D 외 4
- Hypomagnesemia and seizures in a patient with an SOS1 mutation.
Seizure · 2021-11 · Lee DA, Jun KR, Lee JH 외 3
- Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
BMC medical genomics · 2021-10 · Lee Y, Choi Y, Seo GH 외 8
- Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Genes · 2021-10 · Phetthong T, Khongkrapan A, Jinawath N 외 2
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Scientific reports · 2021-09 · Kim SY, Lee S, Seo GH 외 12
- Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
BMC medical genomics · 2021-07 · Jung J, Lee JH, Park YS 외 8
- Development of polymorphic microsatellite markers for the Trichoglossus haematodus and cross-species amplification in Trichoglossus moluccanus.
Molecular biology reports · 2021-07 · Kim JI, Karagozlu MZ, An HE 외 3
- An Investigation of the Variations in Complete Mitochondrial Genomes of Lingula anatina in the Western Pacific Region.
Biology · 2021-04 · Karagozlu MZ, Do TD, Kim JI 외 3
- Clinical and molecular spectra of BRAF-associated RASopathy.
Journal of human genetics · 2021-04 · Lee Y, Choi Y, Seo GH 외 9
- Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Genes · 2021-04 · Kim YJ, Kim YN, Yoon YH 외 5
- The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation.
Brain & development · 2021-02 · Yoo S, Kim YA, Yoon JY 외 3
- Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
PloS one · 2021-01 · Yun U, Lee SA, Choi WA 외 7
- Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Clinical genetics · 2020-12 · Seo GH, Kim T, Choi IH 외 17
- Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature.
Annals of pediatric endocrinology & metabolism · 2020-12 · Kim TY, Jang KM, Keum CW 외 2
- Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.
Medicine · 2020-12 · Ahn H, Seo GH, Oh A 외 10
- An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.
Annals of pediatric endocrinology & metabolism · 2020-12 · Shin JH, Seo GH, Oh SH 외 6
- Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
Scientific reports · 2020-11 · Kim YN, Song JS, Oh SH 외 10
- Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
Journal of clinical medicine · 2020-11 · Kim MJ, Yum MS, Seo GH 외 4
- Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations.
Medicine · 2020-05 · Jung J, Seo GH, Kim YM 외 9
- First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.
Annals of clinical and laboratory science · 2020-01 · Lee BL, Oh SH, Jun KR 외 4
- Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Journal of human genetics · 2019-11 · Kang E, Kim T, Oh A 외 4
Patents
KIPRIS · applicant-matchedUS · Published · 2025-04 · Application 19176905
Registered · 2025-03 · Application 1020250034117
Registered · 2024-09 · Application 1020240126034
Registered · 2024-08 · Application 1020240108865
Registered · 2024-04 · Application 1020240054665
US · Published · 2023-10 · Application 18495539
EP · Published · 2023-10 · Application 23205209.2
Registered · 2023-10 · Application 1020230141074
Registered · 2023-10 · Application 1020230140341
Registered · 2023-10 · Application 1020230140321
Show 39 more patents
Registered · 2023-10 · Application 1020230139933
Registered · 2023-10 · Application 1020230139942
Registered · 2023-10 · Application 1020230139926
Registered · 2023-10 · Application 1020230139935
Registered · 2023-04 · Application 1020230049291
PCT · Published · 2022-12 · Application PCT/KR2022/019581
Registered · 2022-10 · Application 1020220138807
US · Published · 2022-08 · Application 17817221
Registered · 2022-05 · Application 1020220061133
Registered · 2022-03 · Application 1020220037986
Registered · 2022-03 · Application 1020220030011
Registered · 2022-02 · Application 1020220020739
Registered · 2022-02 · Application 1020220014797
US · Published · 2021-12 · Application 17644339
Registered · 2021-12 · Application 1020210170338
Registered · 2021-11 · Application 1020210162569
Registered · 2021-08 · Application 1020210114968
Registered · 2021-08 · Application 1020210102589
Registered · 2021-06 · Application 1020210078478
PCT · Published · 2021-06 · Application PCT/KR2021/007301
Registered · 2021-06 · Application 1020210075089
Registered · 2021-05 · Application 1020210063359
Registered · 2021-01 · Application 1020210007219
Registered · 2020-12 · Application 1020200185184
PCT · Published · 2020-11 · Application PCT/KR2020/016706
Registered · 2020-09 · Application 1020200123374
Registered · 2020-09 · Application 1020200121299
Registered · 2020-08 · Application 1020200107249
Registered · 2020-08 · Application 1020200100095
Registered · 2019-12 · Application 1020190177864
Registered · 2019-11 · Application 1020190155304
US · Published · 2019-08 · Application 17309478
EP · Registered · 2019-08 · Application 19888541.0
PCT · Published · 2019-08 · Application PCT/KR2019/010563
Registered · 2018-11 · Application 1020180151779
Registered · 2018-11 · Application 1020180144133
Registered · 2018-11 · Application 1020180136481
Registered · 2018-11 · Application 1020180136412
Registered · 2017-12 · Application 1020170166354
AI reads
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Times an AI needed something not yet in its index and fetched this page fresh while answering. Citations served from the index leave no trace here.
Collected as raw material for future answers.
Queries from users who connected this index to their own AI.
- OpenAIChatGPT-Userlive4
- OpenAIOAI-SearchBot33
- PerplexityPerplexityBot5
- GoogleGoogleOther3
- AnthropicClaudeBot2
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Measured since Aug 27, 2026 · 5 AI engines · last read Oct 9, 2026
User-agent strings can be forged, so we do not count them at face value. We count only requests matched against vendor-published IP ranges, or confirmed by forward-verified reverse DNS. MCP queries are actual calls to this index's tool endpoint.
Connect this company index directly to your AI
Connect it to ChatGPT or Claude, and your AI queries the full record — profiles, financials, stock data, regulatory approvals, clinical trials, publications and patents — for 3billion Inc. and every listed Korean medical, bio and AI company.
How to connect (MCP)Companies approved for the same productsBiotech & Drug Discovery
Ranked by how many MFDS product categories overlap. Not a ranking — a pointer to where to look.
Ensol Biosciences is a KONEX-listed biotech developing short peptide therapeutics that modulate protein-protein interactions (PPI).
Founded in 1987 and listed on KOSDAQ in 2000, NanoenTek develops Lab-On-a-Chip in-vitro diagnostic devices and life science instruments.
KOSDAQ-listed point-of-care immunodiagnostics company supplying diagnostic cartridges and the ichroma/AFIAS instrument series.
KOSDAQ-listed IVD company producing COVID-19 and HIV point-of-care diagnostic reagents alongside rubber products and entertainment businesses.
Founded 1996, listed on KOSDAQ in 2024, OSANG HEALTHCARE develops and sells biochemistry, immunodiagnostic, and molecular IVD products.
Xcell Therapeutics develops the domestically produced CellCor™ cell culture media series for cell and gene therapy manufacturing.
KOSDAQ-listed in-vitro diagnostics company developing the LabChip-based VERI-Q molecular diagnostic device series.
Founded in 2011 and KOSDAQ-listed in 2019, Sugentech develops multiplex immunoblot, point-of-care, and digital healthcare diagnostics.
CTC Bio develops veterinary and human medicines using fermentation and drug-delivery technology, including CTCZYME and a CBD oral film.
GC Medical Science Corporation, KOSDAQ-listed since 2014, operates diagnostic reagent, blood glucose, and hemodialysis solution businesses.
Alpha AI, founded in 1995 and KOSDAQ-listed in 2000, manufactures biocompatible metal implants and surgical instruments.
Holds manufacturing approvals for 42 point-of-care diagnostic reagents and devices in the IVD market.
Sources and updates
Counts on this page are not company-reported figures. MAA matched records from DART, the Korean MFDS, the US FDA, ClinicalTrials.gov, PubMed and KIPRIS to this company itself, by business registration number or registered name, never by name similarity. They may differ from figures the company publishes.
- Company basics
- Korea Exchange · DART
- Business content
- Compiled from disclosure filings
- Approvals & clinical trials
- Korean MFDS (data.go.kr) · US FDA openFDA — updated weekly
- Key disclosures
- KRX KIND via OpenDART exchange filings — updated daily
- Global clinical trials
- ClinicalTrials.gov (US NIH) — sponsor-matched, updated weekly
- Financials
- DART corporate disclosure filings — annual
- Publications
- PubMed (US National Library of Medicine) — affiliation-matched, updated daily
- Patents
- KIPRIS (Korea Institute of Patent Information) — applicant-matched, updated monthly
- AI reads
- Our server logs, IP-verified every 6 hours
- AI visibility
- Measured 2026-10-01
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