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3billion, Inc. (South Korea)
Homepage:
3billion.io
Alternate names:
3billion, Inc.,
쓰리빌리언
ROR:
04677dp78
OpenAlex ID:
I4405256452
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
2020
·
Go Hun Seo
, Taeho Kim
, et al.
·
Clinical Genetics
·
182
PDF
Calcium Channels as Novel Therapeutic Targets for Ovarian Cancer Stem Cells
2020
·
Heejin Lee
, Jun Woo Kim
, et al.
·
International Journal of Molecular Sciences
·
68
PDF
Critical assessment of missense variant effect predictors on disease-relevant variant data
2025
·
Ruchir Rastogi
, Ryan Chung
, et al.
·
Human Genetics
·
47
Biomarker Panel for the Diagnosis of Pancreatic Ductal Adenocarcinoma
2020
·
Hongbeom Kim
, Kyung Nam Kang
, et al.
·
Cancers
·
46
PDF
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
2022
·
Lauren G. Mascibroda
, Mohammad Shboul
, et al.
·
Nature Communications
·
43
PDF
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints
2021
·
Dhong-Gun Won
, Dong-Wook Kim
, et al.
·
Bioinformatics
·
41
PDF
Congenital Stationary Night Blindness: Clinical and Genetic Features
2022
·
Angela H. Kim
, Pei-Kang Liu
, et al.
·
International Journal of Molecular Sciences
·
36
PDF
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
2022
·
Go Hun Seo
, Hane Lee
, et al.
·
Molecular Medicine
·
34
PDF
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
2021
·
Yoon-Jeon Kim
, You-Na Kim
, et al.
·
Genes
·
32
PDF
Clinical and molecular spectra of BRAF-associated RASopathy
2020
·
Yena Lee
, Yunha Choi
, et al.
·
Journal of Human Genetics
·
26
A programmed decline in ribosome levels governs human early neurodevelopment
2025
·
Chunyang Ni
, Yudong Wei
, et al.
·
Nature Cell Biology
·
25
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
2023
·
Eden Engal
, Kaisa Teele Oja
, et al.
·
The American Journal of Human Genetics
·
25
PDF
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
2022
·
Yunha Choi
, Jungmin Choi
, et al.
·
Molecular Genetics & Genomic Medicine
·
19
PDF
Clinical and genetic features of four patients with Pearson syndrome: An observational study
2022
·
Ji Soo Son
, Go Hun Seo
, et al.
·
Medicine
·
19
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
2021
·
Tim Phetthong
, Arthaporn Khongkrapan
, et al.
·
Genes
·
19
PDF
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes
2024
·
Julian Martinez-Mayer
, Sebastian Vishnopolska
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
18
PDF
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
2020
·
Min-Jee Kim
, Mi-Sun Yum
, et al.
·
Journal of Clinical Medicine
·
18
PDF
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
2025
·
Heonjong Han
, Go Hun Seo
, et al.
·
npj Genomic Medicine
·
16
PDF
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
2024
·
Pablo Iruzubieta
, César Augusto Pinheiro Ferreira Alves
, et al.
·
EBioMedicine
·
16
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients
2020
·
You Na Kim
, Joon Seon Song
, et al.
·
Scientific Reports
·
16
PDF
Fibronectin Type III Domain Containing 3B as a Potential Prognostic and Therapeutic Biomarker for Glioblastoma
2023
·
Hyukjun Kwon
, Minji Yun
, et al.
·
Biomedicines
·
15
PDF
Undiagnosed disease program in South Africa: Results from first 100 exomes
2022
·
Shahida Moosa
, Kimberly Christine Coetzer
, et al.
·
American Journal of Medical Genetics Part A
·
14
PDF
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
2022
·
Yin-Hsi Chang
, Eugene Yu-Chuan Kang
, et al.
·
Investigative Ophthalmology & Visual Science
·
14
Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome
2021
·
Jisun Park
, Dong Jun Ha
, et al.
·
Journal of Korean Medical Science
·
14
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024
·
Emily Banks
, Vincent Francis
, et al.
·
Nature Communications
·
13
PDF
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Works count:
217
Citation count:
4,502
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