Publications논문

AGO1 in neural progenitor cells orchestrates brain development and sociability via LIN28A-REELIN axis

Do H, Kim D, Jappelli R, Yang H, Jeon Y, Son G, Ju M, Son J, Ahn I, Lim CK, Ji J, Lee J, Kim YK, An JY, Lee SH, Lee D, G...

bioRxiv (2025)

Angiopoietin-2 aggravates Alzheimer's disease by promoting blood-brain barrier dysfunction and neuroinflammation

Lee E, Kim S, Zhu CL, Acquarone E, Kim S, Lo A, Omar OMF, Taddese M, Gradinaru V, Murphy PA, Agalliu D, Arancio O, An JY...

Cell Reports (2026)

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development

Kim S, Kim H, Pelayo J, Alvarez S, Jang G, Kim J, Hoelscher V, Calleja-Pérez B, Jung H, Lee J, Kim S, Jimenez de la Peña...

medRxiv (2025)

Assessing Long-Term Stored Tissues for Multi-Omics Data Quality and Proteogenomics Suitability

Song KJ, Kim M, Heo YJ, Cho KC, Oh JW, Kim DH, Hwa C, Do Y, Choi S, Hwang HS, Kim K, Kim KG, Na S, Paek E, An JY, Jang S...

Journal of Proteome Research (2025)

Advancing precision diagnosis in autism: Insights from large-scale genomic studies

Kim SW, An JY

Molecules and Cells (2025)

Peripheral Substance P induces deficits in hippocampal synaptic plasticity and memory

Kim SY, Yoon K-N, Ji J, Kim M, Choi SA, Lee W-W, Chung JH, Park G, An JY, Lee DH, Lee Y-S

Molecular Brain (2025)

Proteogenomic Analysis on RNA m6A Modification-Associated Genes Identifies a Distinct Subgroup with High IGF2BPs Expression Across Cancer Types

Ryu Y, Chang E, Park H, Cho S-Y, An JY

International Journal of Medical Sciences (2025)

CD99-mediated immunological synapse formation potentiates CAR-T cell function

Nam G, Yeon HR, Park HB, Chang H, Kim JH, Cho BK, Jung H, Yi EC, Kim S, An JY, Lee JE, Lee Y, Lee S, Lim H, Shon W, Hwan...

Nature Communications (2025)

Dysregulated RNA Binding Proteins and Alternative Splicing: Emerging Roles in Autism Spectrum Disorder

Jeong JW, Yoo HJ, An JY, Jeong SJ

Molecules and Cells (2025)

Region- and cell type-specific changes in gene expression in the cerebellum after classical fear conditioning

Ji J, Baek J, Hwang KD, Choi S, Kasuya J, Abel T, An JY, Lee YS

Research Square (2025)

Establishment of in silico prediction of adjuvant chemotherapy response from active mitotic gene signature in non-small cell lung cancer

Kwon EJ, Hwang HS, Chang E, An JY, Cha HJ

medRxiv (2025)

Characterization of human anterior neural organoids as a model for investigating Cohen syndrome

Prasad R, Lee JH, Lee DY, Lee Y, Lee J, Park SH, Ryu JR, Lee B, Choi S, Choi J, Cho IJ, An JY, Vacca F, Ansar M, Kim HJ,...

bioRxiv (2025)

Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics

Lee H, Kim W, Kwon N, Kim C, Kim S, An JY

Genomics & Informatics (2025)

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models

Kang M, Choi J, Han J, Araki T, Kim SW, Ryu HH, Kim MG, Kim S, Jang H, Kim SY, Hwang KD, Kim S, Yoo M, Lee J, Kim K, Par...

Journal of Clinical Investigation (2025)

Uncovering Potential Causal Genes for Undiagnosed Congenital Anomalies Using an In-House Pipeline for Trio-Based Whole-Genome Sequencing

Kim JM, Cho HW, Shin DM, Kim OH, Kim J, Lee H, Lee GH, An JY, Yang M, Jo HS, Jang JH, Chang YS, Park HY, Park MH

Human Genomics (2025)

RNA N6-methyladenosine-binding protein YTHDFs redundantly attenuate cancer immunity by downregulating IFN-γ signaling in gastric cancer

Jang D, Hwa C, Kim S, Oh J, Shin S, Lee SJ, Kim J, Lee SE, Yang Y, Kim D, Lee S, Jung HR, Oh Y, Kim K, Lee HS, An JY, Ch...

Advanced Science (2024)

Pan-cancer proteogenomic landscape of whole-genome doubling reveals putative therapeutic targets in various cancer types

Chang E, Hwang HS, Song KJ, Kim K, Kim MS, Jang SJ, Kim KP, You S, An JY

Clinical and Translational Medicine (2024)

An integrative single-cell atlas to explore the cellular and temporal specificity of neurological disorder genes during human brain development.

Kim S, Lee J, Koh IG, Ji J, Kim HJ, Kim E, Park J, Park JE, An JY

Experimental & Molecular Medicine (2024), 1(1): 1-1

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Kim JH, Koh IG, Lee H, Lee GH, Song DY, Kim SW, Kim Y, Han JH, Bong G, Lee J, Byun H, Son JH, Kim YR, Lee Y, Kim JJ, Par...

Psychiatry and Clinical Neurosciences (2024), 1(1): 1-1

Multiomics in cancer biomarker discovery and cancer subtyping

Choi S, An JY

Advances in Clinical Chemistry (2025), 125: 93-142

Chronic ultraviolet irradiation induces memory deficits via dysregulation of the dopamine pathway

Yoon KN, Kim SY, Ji J, Cui Y, Quan QL, Park G, Oh JH, Lee JS, An JY, Chung JH, Lee YS, Lee DH

Experimental and Molecular Medicine (2024)

Sex-differential gene expression in developing human cortex and its intersection with autism risk pathways

Kissel LT, Pochareddy S, An JY, Sestan N, Sanders SJ, Wang X, Werling DM

Biological Psychiatry Global Open Science (2024)

Whole-genome doubling is a double-edged sword, the heterogeneous role of whole-genome doubling in various cancer types.

Chang E, An JY

BMB Reports (2024), 57(3): 125-134

A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo

Lagunas T, Plassmyer SP, Friedman RZ, Rieger MA, Fischer AD, Lucero AFA, An JY, Sanders SJ, Cohen BA, Dougherty JD

Communications Biology (2023)

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weis...

The American Journal of Human Genetics (2023)

Angiopoietin-2-dependent spatial vascular destabilization promotes T-cell exclusion and limits immunotherapy in melanoma

Park HR, Shiva A, Cummings P, Kim S, Kim S, Lee E, Leong A, Chowdhury S, Shawber C, Carvajal R, Thurston G, An JY, Lund ...

Cancer Research (2023)

Dysregulation of the Wnt/β-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder

Park G, Jang WE, Kim S, Gonzales EL, Ji J, Choi S, Kim YJ, Park JH, Mohammad HB, Bang G, Kang M, Kim SB, Jeon SJ, Kim JY...

Experimental and Molecular Medicine (2023)

Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.

Jang WE, Park JH, Park G, Bang G, Na CH, Kim JY, Kim KY, Kim KP, Shin CY, An JY, Lee YS, Kim MS

Molecular Psychiatry (2023)

Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays

Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A

International Journal of Molecular Sciences (2023)

Chronic skin ultraviolet irradiation induces transcriptomic changes associated with microglial dysfunction in the hippocampus.

Yoon KN, Kim Y, Cui Y, Ji J, Park G, Chung JH, Lee YS, An JY, Lee DH

Molecular Brain (2022), 15(1)

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Wamsley B, Klei L, Wang L, Hao SP, Stevens CR, Cusick C, Bab...

Nature Genetics (2022)

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Kim IB, Lee T, Lee J, Kim J, Lee S, Koh IG, Kim JH, An JY, Lee H, Kim WK, Ju YS, Cho Y, Yu SJ, Kim SA, Oh M, Han DW, Kim...

Molecular Psychiatry (2022), 27(11)

Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.

Jang Y, Kwak E, An JY, Jung JH

Ophthalmic Genetics (2022), 43(5)

Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities.

Lee T, Lee H, Kim S, Park KJ, An JY, Kim HW

Journal of Autism and Developmental Disorders (2022)

Augmentation of the RNA m6A reader signature is associated with poor survival by enhancing cell proliferation and EMT across cancer types.

Oh J, Hwa C, Jang D, Shin S, Lee SJ, Kim J, Lee SE, Jung HR, Oh Y, Jang G, Kwon O, An JY, Cho SY

Experimental & Molecular Medicine (2022), 54(7)

High-throughput characterization of the role of non-B DNA motifs on promoter function.

Georgakopoulos-Soares I, Victorino J, Parada GE, Agarwal V, Zhao J, Wong HY, Umar MI, Elor O, Muhwezi A, An JY, Sanders ...

Cell Genomics (2022), 2(4)

Genetic architecture of autism spectrum disorder - Lessons from large-scale genomic studies.

Choi L, An JY

Neuroscience and Biobehavioral Reviews (2021), 128: 244-257

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.

Liang L, Fazel Darbandi S, Pochareddy S, Gulden FO, Gilson MC, Sheppard BK, Sahagun A, An JY, Werling DM, Rubenstein JLR...

Genome Medicine (2021), 13(1)

Integrative Multi-Omics Approaches in Cancer Research - From Biological Networks to Clinical Subtypes.

Heo YJ, Hwa C, Lee GH, Park JM, An JY

Molecules and Cells (2021), 44(7)

Kdm3b haploinsufficiency impairs the consolidation of cerebellum-dependent motor memory in mice.

Kim YG, Bak MS, Kim A, Kim Y, Chae YC, Kim YL, Chun YS, An JY, Seo SB, Kim SJ, Lee YS

Molecular Brain (2021), 14(1)

ANO1 regulates the maintenance of stemness in glioblastoma stem cells by stabilizing EGFRvIII.

Kim HJ, Kim JY, Jung CW, Lee YS, An JY, Kim EH, Kim KH, Lee SP, Park JY, Park MJ

Oncogene (2021), 40(8)

CRISPR screens identify a novel combination treatment targeting BCL-XL and WNT signaling for KRAS/BRAF-mutated colorectal cancers.

Jung HR, Oh Y, Na D, Min S, Kang J, Jang D, Shin S, Kim J, Lee SE, Jeong EM, An JY, Sung CO, Lee WS, Lee C, Cho SY

Oncogene (2021), 40(18)

Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.

An JY, Jung JH, Choi L, Wieben ED, Mohney BG

Genes (2021), 12(1)

Ferroptosis-Related Genes in Neurodevelopment and Central Nervous System.

Kim SW, Kim Y, Kim SE, An JY

Biology (2021), 10(1)

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reiche...

Cell (2020), 180(3)

Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.

Genc O, An JY, Fetter RD, Kulik Y, Zunino G, Sanders SJ, Davis GW

eLife (2020), 9

Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development.

Kim Y, An JY

Genes (2020), 11(5)

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.

Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, ..., Sanders SJ,...

Cell Reports (2020), 31(1)

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder.

Williams SM, An JY, Edson J, Watts M, Murigneux V, Whitehouse AJO, Jackson CJ, Bellgrove MA, Cristino AS, Claudianos C

Molecular Psychiatry (2019), 24(11)

Recessive gene disruptions in autism spectrum disorder

Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Autism Sequencing Co...

Nature Genetics (2019)

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, De...

Science (2018), 362(6420)

Comprehensive functional genomic resource and integrative model for the human brain.

Wang D, Liu S, Warrell J, Won H, Shi X, Navarro FCP, Clarke D, Gu M, Emani P, Yang YT, Xu M, Gandal MJ, Lou S, Zhang J, ...

Science (2018), 362(6420)

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Far...

Nature Genetics (2018), 50(5)

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan...

Nature Neuroscience (2017)

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ

Biological Psychiatry (2017), 82(3)

Appreciating the Population-wide Impact of Copy Number Variants on Cognition.

An JY, Sanders SJ

Biological Psychiatry (2017), 82(2)

Defining the spectrum of large inversions, complex structural variation, and chromothripsis in the morbid genome.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Gi...

Genome Biology (2017), 18(1)

National human genome projects - an update and an agenda.

An JY

Epidemiology and Health (2017), 39

Genetic heterogeneity in autism - From single gene to a pathway perspective.

An JY, Claudianos C

Neuroscience and Biobehavioral Reviews (2016), 68

Towards a molecular characterization of autism spectrum disorders - an exome sequencing and systems approach.

An JY, Cristino AS, Zhao Q, Edson J, Williams SM, Ravine D, Wray J, Marshall VM, Hunt A, Whitehouse AJ, Claudianos C

Translational Psychiatry (2014), 4

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system.

Cristino AS, Williams SM, Hawi Z, An JY, Bellgrove MA, Schwartz CE, Costa Lda F, Claudianos C

Molecular Psychiatry (2014), 19(3)