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Publications
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Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Lob K, Sawka DM, Gaitanis JN, Liu JS, Nie DA Journal of Autism and Developmental Disorders 2025 Dec 55 4324-4336 -
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder
Ozlu C, Adams RM, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Spelbrink EM, Brown TL, Nye K, Liu JS, Bailey RM, Goodspeed K, Porter BE Developmental Medicine and Child Neurology 2025 Jul 67 930-940 -
Identifying and Understanding Seizure Liability in Drug Development
Sokolowski K, Erwin L, Liu J, Authier S, McMaster O, Pressly B, Bolon B, Delatte MS International Journal of Toxicology 2025 Apr 44 99-124 -
The Role of Neuropathology Evaluation in the Nonclinical Assessment of Seizure Liability
Sokolowski K, Liu J, Delatte MS, Authier S, McMaster O, Bolon B Toxicologic Pathology 2024 Dec 52 566-573 -
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM Journal of medical genetics 2024 Oct 61 1031-1039 -
Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder
Adams RM, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown TL, Nye K, Liu J, Porter BE, Goodspeed K, Bailey RM Genes 2024 Oct 15 -
Clock knockout in inhibitory neurons reduces predisposition to epilepsy and influences anxiety-like behaviors in mice
Deng L, Jiang H, Lin J, Xu D, Qi A, Guo Q, Li PP, Wang X, Liu JS, Fu X, Li P Neurobiology of Disease 2024 Apr 193 -
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Author Collaboration FC, Author Collaboration BS, Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh AP, Breuss MW, Ball LL, Garcia CA, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Liu J Nature genetics 2023 Feb 55 209-220 -
Live-Imaging Detection of Multivesicular Body-Plasma Membrane Fusion and Exosome Release in Cultured Primary Neurons
Pescosolido MF, Ouyang Q, Liu JS, Morrow EM 2023 213-220 -
Doublecortin and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking
Fu X, Rao L, Li P, Liu X, Wang Q, Son AI, Gennerich A, Liu JS eLife 2022 Dec 11 -
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM Genes 2022 Sep 13 -
Counteracting epigenetic mechanisms regulate the structural development of neuronal circuitry in human neurons
Cheon S, Culver AM, Bagnell AM, Ritchie FD, Vacharasin JM, McCord MM, Papendorp CM, Chukwurah E, Smith AJ, Cowen MH, Moreland TA, Ghate PS, Davis SW, Liu JS, Lizarraga SB Molecular psychiatry 2022 Apr 27 2291-2303 -
Loss of Christianson syndrome Na+/H+ exchanger 6 (NHE6) causes abnormal endosome maturation and trafficking underlying lysosome dysfunction in neurons
Pescosolido MF, Ouyang Q, Liu JS, Morrow EM Journal of Neuroscience 2021 Nov 41 9235-9256 -
Stopping the Clock on Seizures!
Fu X, Liu JS, Li P Trends in Neurosciences 2021 Jun 44 422-423 -
Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures: Improving Sleep and Seizures, Themes for Future Research
Quigg M, Bazil CW, Boly M, Louis ES, Liu J, Ptacek L, Maganti R, Kalume F, Gluckman BJ, Pathmanathan J, Pavlova MK, Buchanan GF Epilepsy Currents 2021 May 21 204-209 -
Doublecortin facilitates the elongation of the somatic Golgi apparatus into proximal dendrites
Li P, Li L, Yu B, Wang X, Wang Q, Lin J, Zheng Y, Zhu J, He M, Xia Z, Tu M, Liu JS, Lin Z, Fu X Molecular biology of the cell 2021 Mar 32 422-434 -
Molecular regulation of brain metabolism underlying circadian epilepsy
Chan F, Liu J Epilepsia 2021 Feb 62 S32-S48 -
E-I E-I Woe: Mossy Cell Regulation of Granule Cell Activity in Temporal Lobe Epilepsy
Goicouria L, Liu J Epilepsy Currents 2020 May 20 173-174 -
Tubb4a mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model
Sase S, Almad AA, Alexander Boecker C, Guedes-Dias P, Li JJ, Takanohashi A, Patel A, McCaffrey T, Patel H, Sirdeshpande D, Curiel J, Liu JS, Padiath Q, Holzbaur EL, Scherer SS, Vanderver A eLife 2020 May 9 1-28 -
Kcnn2 blockade reverses learning deficits in a mouse model of fetal alcohol spectrum disorders
Mohammad S, Page SJ, Wang L, Ishii S, Li P, Sasaki T, Basha A, Salzberg A, Quezado Z, Imamura F, Nishi H, Isaka K, Corbin JG, Liu JS, Kawasawa YI, Torii M, Hashimoto-Torii K Nature neuroscience 2020 Apr 23 533-543 -
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification
Kavanaugh BC, Warren EB, Baytas O, Schmidt M, Merck D, Buch K, Liu JS, Phornphutkul C, Caruso P, Morrow EM American Journal of Medical Genetics, Part A 2019 Nov 179 2284-2291 -
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM Human genetics 2019 Oct 138 1183-1200 -
A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect
Yap CC, Digilio L, Kruczek K, Roszkowska M, Fu Xq, Liu JS, Winckler B Journal of Biological Chemistry 2018 Dec 293 18890-18902 -
An Implantable Micro-Caged Device for Direct Local Delivery of Agents
Son AI, Opfermann JD, McCue C, Ziobro J, Abrahams JH, Jones K, Morton PD, Ishii S, Oluigbo C, Krieger A, Liu JS, Hashimoto-Torii K, Torii M Scientific reports 2017 Dec 7 -
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Curiel J, Bey GR, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A Human molecular genetics 2017 Nov 26 4506-4518 -
Loss of CLOCK Results in Dysfunction of Brain Circuits Underlying Focal Epilepsy
Li P, Fu X, Smith NA, Ziobro J, Curiel J, Tenga MJ, Martin B, Freedman S, Cea-Del Rio CA, Oboti L, Tsuchida TN, Oluigbo C, Yaun A, Magge SN, O'Neill B, Kao A, Zelleke TG, Depositario-Cabacar DT, Ghimbovschi S, Knoblach S, Ho CY, Corbin JG, Goodkin HP, Vicini S, Huntsman MM, Gaillard WD, Valdez G, Liu JS Neuron 2017 Oct 96 387-401.e6 -
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Hamilton EM, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, Van Der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TE, Van Der Knaap MS Neurology 2017 Oct 89 1821-1828 -
Differential neuronal susceptibility and apoptosis in congenital Zika virus infection
Ho CY, Ames HM, Tipton A, Vezina G, Liu JS, Scafidi J, Torii M, Rodriguez FJ, du Plessis A, DeBiasi RL Annals of Neurology 2017 Jul 82 121-127 -
Proteome dynamics during postnatal mouse corpus callosum development
Son AI, Fu X, Suto F, Liu JS, Hashimoto-Torii K, Torii M Scientific reports 2017 Mar 7 -
Embryonic transcription factor expression in mice predicts medial amygdala neuronal identity and sex-specific responses to innate behavioral cues
Lischinsky JE, Sokolowski K, Li P, Esumi S, Kamal Y, Goodrich M, Oboti L, Hammond TR, Krishnamoorthy M, Feldman D, Huntsman M, Liu J, Corbin JG eLife 2017 Mar 6 -
The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease
Chakraborti S, Natarajan K, Curiel J, Janke C, Liu J Cytoskeleton 2016 Oct 73 521-550 -
Rasmussen encephalitis tissue transfer program
Kruse CA, Pardo CA, Hartman AL, Jallo G, Vining EP, Voros J, Gaillard WD, Liu J, Oluigbo C, Malone S, Bleasel AF, Dexter M, Micati A, Velasco TR, MacHado HR, Martino AM, Huang A, Wheatley BM, Grant GA, Granata T, Freri E, Garbelli R, Koh S, Nordli DR, Campos AR, O'Neill B, Handler MH, Chapman KE, Wilfong AA, Curry DJ, Yaun A, Madsen JR, Smyth MD, Mercer D, Bingaman W, Harvey AS, Leventer RJ, Lockhart PJ, Gillies G, Pope K, Giller CA, Park YD, Rojiani AM, Sharma SJ, Jenkins P, Tung S, Huynh MN, Chirwa TW, Cepeda C, Levine MS, Chang JW, Owens GC, Vinters HV, Mathern GW Epilepsia 2016 Jun 57 1005-1007 -
The use of proteomic analysis to study trafficking defects in axons
Fu X, Brown KJ, Rayavarapu S, Nagaraju K, Liu JS 2016 151-162 -
Doublecortin-Like Kinases Promote Neuronal Survival and Induce Growth Cone Reformation via Distinct Mechanisms
Nawabi H, Belin S, Cartoni R, Williams PR, Wang C, Latremolière A, Wang X, Zhu J, Taub DG, Fu X, Yu B, Gu X, Woolf CJ, Liu JS, Gabel CV, Steen JA, He Z Neuron 2015 Nov 88 704-719 -
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM Annals of Neurology 2014 Oct 76 581-593 -
Polarity in migrating neurons is related to a mechanism analogous to cytokinesis
Falnikar A, Tole S, Liu M, Liu JS, Baas PW Current Biology 2013 Jul 23 1215-1220 -
Doublecortin (Dcx) family proteins regulate filamentous actin structure in developing neurons
Fu X, Brown KJ, Yap CC, Winckler B, Jaiswal JK, Liu JS Journal of Neuroscience 2013 Jan 33 709-721 -
Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins
Liu JS, Schubert CR, Fu X, Fourniol FJ, Jaiswal JK, Houdusse A, Stultz CM, Moores CA, Walsh CA Molecular cell 2012 Sep 47 707-721 -
Doublecortin (DCX) mediates endocytosis of neurofascin independently of microtubule binding
Yap CC, Vakulenko M, Kruczek K, Motamedi B, Digilio L, Liu JS, Winckler B Journal of Neuroscience 2012 May 32 7439-7453 -
Molecular genetics of neuronal migration disorders
Liu JS Current neurology and neuroscience reports 2011 Apr 11 171-178 -
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias
Liu JS, Walsh CA Epilepsia 2010 Dec 51 67 -
Identification of neural outgrowth genes using genome-wide RNAi
Sepp KJ, Hong P, Lizarraga SB, Liu JS, Mejia LA, Walsh CA, Perrimon N PLoS genetics 2008 Jul 4 -
Doublecortin is expressed in articular chondrocytes
Zhang Y, Ryan JA, Di Cesare PE, Liu J, Walsh CA, You Z Biochemical and Biophysical Research Communications 2007 Nov 363 694-700 -
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration
Friocourt G, Liu JS, Antypa M, Rakić S, Walsh CA, Parnavelas JG Journal of Neuroscience 2007 Apr 27 3875-3883 -
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth
Deuel TA, Liu JS, Corbo JC, Yoo SY, Rorke-Adams LB, Walsh CA Neuron 2006 Jan 49 41-53 -
Expression of inducible nitric oxide synthase and nitrotyrosine in multiple sclerosis lesions
Liu JS, Zhao ML, Brosnan CF, Lee SC American Journal of Pathology 2001 158 2057-2066 -
Modulation of interleukin-1β and tumor necrosis factor α signaling by P2 purinergic receptors in human fetal astrocytes
Liu JS, John GR, Sikora A, Lee SC, Brosnan CF Journal of Neuroscience 2000 Jul 20 5292-5299 -
Differential induction of chemokines in human microglia by type I and II interferons
McManus CM, Liu JS, Hahn MT, Hua LL, Brosnan CF, Berman JW, Lee SC GLIA 2000 Feb 29 273-280 -
High extracellular potassium modulates nitric oxide synthase expression in human astrocytes
Morgan AC, Chang HY, Liu JS, Hua LL, Lee SC Journal of Neurochemistry 2000 74 1903-1912 -
IL-1β differentially regulates calcium wave propagation between primary human fetal astrocytes via pathways involving P2 receptors and gap junction channels
John GR, Scemes E, Suadicani SO, Liu JS, Charles PC, Lee SC, Spray DC, Brosnan CF Proceedings of the National Academy of Sciences of the United States of America 1999 Sep 96 11613-11618 -
Cutting edge: Purinergic signaling regulates radical-mediated bacterial killing mechanisms in macrophages through a P2X7-independent mechanism
Sikora A, Liu J, Brosnan C, Buell G, Chessel I, Bloom BR Journal of Immunology 1999 Jul 163 558-561 -
Inducible nitric oxide synthase expression is selectively induced in astrocytes isolated from adult human brain
Zhao ML, Liu JS, He D, Dickson DW, Lee SC Brain Research 1998 Dec 813 402-405 -
IFNs are critical regulators of IL-1 receptor antagonist and IL-1 expression in human microglia
Liu JS, Amaral TD, Brosnan CF, Lee SC Journal of Immunology 1998 Aug 161 1989-1996 -
Interferon-beta upregulates interleukin-1 receptor antagonist in human microglia
Liu JS, Amaral TD, Brosnan CF, Lee SC FASEB Journal 1998 Mar 12 A880 -
Selective inhibition of human glial inducible nitric oxide synthase by interferon-β: Implications for multiple sclerosis
Hua LL, Liu JS, Brosnan CF, Lee SC Annals of Neurology 1998 Mar 43 384-387 -
Regulation of inducible nitric oxide synthase expression in human glia: Implications for inflammatory central nervous system diseases
Brosnan CF, Lee SC, Liu J Biochemical Society Transactions 1997 25 679-683 -
Expression of Type II Nitric Oxide Synthase in Primary Human Astrocytes and Microglia: Role of IL-1β and IL-1 Receptor Antagonist
Liu J, Zhao ML, Brosnan CF, Lee SC Journal of Immunology 1996 Oct 157 3569-3576
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Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Judy Liu, M.D., Ph.D.
- Miller Family Distinguished University Chair in Neurological Disease
- Neurology
Education & Training
- Medical School - Albert Einstein College of Medicine (1997-2000)
- Residency - Beth Israel Deaconess Medical Center (2000-2001), Internal Medicine
- Fellowship - Beth Israel Deaconess Medical Center East (2004), Neurology
- Residency - Beth Israel Deaconess Med. Ctr. / Harvard (2001-2004), Neurology
- Internship - Havard Medical School/Beth Israel Deaconess Medical Center (2000-2001)