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HSIAO-TUAN CHAO

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1250 MOURSUND STREET
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    Other Positions
    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics

    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Neuroscience
    DivisionNeuroscience


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    R01NS134596     (CHAO, HSIAO-TUAN)Jul 15, 2024 - Jun 30, 2029
    NIH
    Molecular and Cellular Mechanisms of Cerebellar Dysfunction in Neurodevelopmental disorders
    Role: Principal Investigator
    Elterman Pediatric Epilepsy Research Foundation Aw     (CHAO, HSIAO-TUAN)Jan 1, 2019 - Dec 31, 2020
    Child Neurology Society and Foundation
    Deciphering the regulatory landscape of inhibitory signaling in neurodevelopmental disorders
    Role: Principal Investigator
    DP5OD026428     (CHAO, HSIAO-TUAN)Sep 18, 2018 - Aug 30, 2023
    NIH
    Illuminating GABAergic Signaling in Neurodevelopmental Disorders
    Role: Principal Investigator
    Career Award for Medical Scientists     (CHAO, HSIAO-TUAN)Sep 1, 2018 - Aug 30, 2023
    Burroughs Wellcome Fund
    Mechanisms of COE-transcriptional dysfunction
    Role: Principal Investigator
    CNCDP-K12     (CHAO, HSIAO-TUAN)Jul 2, 2017 - Sep 17, 2018
    NIH/NINDS
    Role of COE transcription factor dysfunction in neurologic disorders
    Role: Principal Investigator
    Neuroscience Research Grant     (CHAO, HSIAO-TUAN)Jul 1, 2017 - Jun 30, 2020
    American Academy of Neurology
    Transcriptional dysregulation in neurodevelopmental disorders
    Role: Principal Investigator
    F31MH078678     (CHAO, HSIAO-TUAN)Apr 9, 2008 - Apr 8, 2011
    NIH
    Role of Excitation and Inhibition in Rett Syndrome
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Aceves-Ewing NM, Lanza DG, Marcogliese PC, Lu D, Hsu CW, Gonzalez M, Christiansen AE, Rasmussen TL, Ho AJ, Gaspero A, Seavitt J, Dickinson ME, Yuan B, Shayota BJ, Pachter S, Hu X, Day-Salvatore DL, Mackay L, Kanca O, Wangler MF, Potocki L, Rosenfeld JA, Lewis RA, Chao HT, Lee B, Lee S, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S, Bellen HJ, Burrage LC, Heaney JD, Yuan B. Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. medRxiv. 2025 Mar 01. PMID: 39677486; PMCID: PMC11643287.
      Citations:    
    2. Corriveau ML, Korb JC, Michener SL, Owen NM, Wilson EL, Kubala J, Turner A, Takacs DS, Potocki L, Swann JW, Xue M, Dai H, Chao HT. De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature. Am J Med Genet A. 2025 Jan 30; e63975. PMID: 39887826.
      Citations:    Fields:    
    3. Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797. PMID: 39486878; PMCID: PMC11610578.
      Citations:    Fields:    Translation:HumansAnimals
    4. Hayden AN, Brandel KL, Pietryk EW, Merlau PR, Vijayakumar P, Leptich EJ, Gaytan ES, Williams MI, Ni CW, Chao HT, Rosenfeld JA, Arey RN. Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein required for associative learning and memory in C. elegans. PLoS Genet. 2024 Oct; 20(10):e1011443. PMID: 39423228; PMCID: PMC11524487.
      Citations:    Fields:    Translation:HumansAnimals
    5. LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524. PMID: 39107278; PMCID: PMC11303402.
      Citations: 1     Fields:    Translation:HumansCells
    6. Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9). PMID: 38716726; PMCID: PMC11141928.
      Citations:    Fields:    Translation:Humans
    7. Hayden AN, Brandel KL, Merlau PR, Vijayakumar P, Leptich EJ, Pietryk EW, Gaytan ES, Ni CW, Chao HT, Rosenfeld JA, Arey RN. Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv. 2024 May 02. PMID: 38260399; PMCID: PMC10802296.
      Citations:    
    8. Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A, Undiagnosed Diseases Network, Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv. 2024 Apr 24. PMID: 38712270; PMCID: PMC11071548.
      Citations:    
    9. Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862. PMID: 38593811; PMCID: PMC11080285.
      Citations: 2     Fields:    Translation:HumansCells
    10. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. PMID: 38508193; PMCID: PMC11023915.
      Citations:    Fields:    
    11. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118. PMID: 38181735; PMCID: PMC10806447.
      Citations: 4     Fields:    Translation:HumansAnimals
    12. LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv. 2023 Oct 12. PMID: 37873138; PMCID: PMC10592992.
      Citations:    
    13. Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29. PMID: 37034625; PMCID: PMC10081396.
      Citations:    
    14. Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625. PMID: 36905087.
      Citations:    Fields:    Translation:HumansCells
    15. Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Bl?mlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 Mar 02; 110(3):548. PMID: 36868207; PMCID: PMC10027494.
      Citations:    Fields:    
    16. Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Bl?mlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 01 05; 110(1):120-145. PMID: 36528028; PMCID: PMC9892767.
      Citations: 2     Fields:    Translation:HumansAnimals
    17. Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. PMID: 35934918; PMCID: PMC9669137.
      Citations:    
    18. Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Ann Clin Transl Neurol. 2022 08; 9(8):1276-1288. PMID: 35871307; PMCID: PMC9380164.
      Citations:    Fields:    
    19. Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT. An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Ann Neurol. 2022 07; 92(1):138-153. PMID: 35340043.
      Citations:    Fields:    Translation:HumansCells
    20. Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Sabatier I, Brownstein CA, Madden JA, Agrawal PB, Brugger M, Leiz S, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Pavinato L, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S, Fehr S, Lesca G, Chatron N, Keren B, Courtin T, Perrin L, Roser T, Mau-Them FT, Keller R, Brusco A. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. PMID: 35294868; PMCID: PMC8983390.
      Citations: 2     Fields:    Translation:HumansAnimals
    21. Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874. PMID: 35194938; PMCID: PMC11149102.
      Citations:    Fields:    Translation:Humans
    22. Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA, Undiagnosed Diseases Network, Lee B, M?ller MF, Y?pez VA. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1). PMID: 33001864; PMCID: PMC7773386.
      Citations: 14     Fields:    Translation:HumansCellsCTClinical Trials
    23. Calame DG, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT. EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. Neurol Genet. 2021 Feb; 7(1):e539. PMID: 33553620; PMCID: PMC7862097.
      Citations: 1     
    24. Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725. PMID: 32330417; PMCID: PMC7212481.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    25. Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Shamsi AMSMA, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2020 Apr; 22(4):821. PMID: 31857706.
      Citations:    Fields:    
    26. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT, K?ry S. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583. PMID: 32197074; PMCID: PMC7118694.
      Citations: 15     Fields:    Translation:Humans
    27. Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9. PMID: 32073399; PMCID: PMC7056272.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    28. Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 08 20; (150). PMID: 31498321; PMCID: PMC7418855.
      Citations: 17     Fields:    Translation:HumansAnimals
    29. Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764. PMID: 31263215; PMCID: PMC6895419.
      Citations: 7     Fields:    Translation:HumansAnimals
    30. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479. PMID: 30569621.
      Citations: 3     Fields:    Translation:Humans
    31. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P, Faivre L, Lefebvre M. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986; PMCID: PMC5607840.
      Citations: 29     Fields:    Translation:Humans
    32. Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 2017 09; 207(1):9-27. PMID: 28874452; PMCID: PMC5586389.
      Citations: 84     Fields:    Translation:HumansAnimals
    33. Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689. PMID: 28815871.
      Citations: 16     Fields:    Translation:Humans
    34. Chao HT, Liu L, Bellen HJ. Building dialogues between clinical and biomedical research through cross-species collaborations. Semin Cell Dev Biol. 2017 10; 70:49-57. PMID: 28579453; PMCID: PMC5623622.
      Citations: 6     Fields:    Translation:HumansAnimals
    35. Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, UDN, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853. PMID: 28502612; PMCID: PMC5670038.
      Citations: 82     Fields:    Translation:Humans
    36. Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137. PMID: 28017372; PMCID: PMC5223093.
      Citations: 50     Fields:    Translation:HumansCells
    37. Wu JH, Liu JH, Ko YC, Wang CT, Chung YC, Chu KC, Liu TT, Chao HM, Jiang YJ, Chen SJ, Chung MY. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016 Apr 15; 25(8):1637-47. PMID: 26908610.
      Citations:    
    38. Trimbuch T, Chao HT, Jordan JC, Herman MA, Rosenmund C, Chang CL. Investigation of synapse formation and function in a glutamatergic-GABAergic two-neuron microcircuit. J Neurosci. 2014 Jan 15; 34(3):855-68. PMID: 24431444; PMCID: PMC6608345.
      Citations: 16     Fields:    Translation:AnimalsCells
    39. Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. J Neurosci. 2013 Dec 11; 33(50):19518-33. PMID: 24336718; PMCID: PMC3858623.
      Citations: 67     Fields:    Translation:AnimalsCells
    40. Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26; 15(2):176-7. PMID: 22281712.
      Citations: 35     Fields:    Translation:HumansAnimals
    41. Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9. PMID: 21068835; PMCID: PMC3057962.
      Citations: 585     Fields:    Translation:AnimalsCells
    42. Xue M, Craig TK, Xu J, Chao HT, Rizo J, Rosenmund C. Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity. Nat Struct Mol Biol. 2010 May; 17(5):568-75. PMID: 20400951; PMCID: PMC3172005.
      Citations: 68     Fields:    Translation:AnimalsCells
    43. Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51):21966-71. PMID: 20007372; PMCID: PMC2799790.
      Citations: 121     Fields:    Translation:AnimalsCells
    44. Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 2009 Nov 12; 64(3):341-54. PMID: 19914183; PMCID: PMC2818435.
      Citations: 87     Fields:    Translation:AnimalsCells
    45. Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24; 106(12):4577-8. PMID: 19293386; PMCID: PMC2660756.
      Citations: 20     Fields:    Translation:AnimalsCells
    46. Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008 Sep 25; 59(6):947-58. PMID: 18817733; PMCID: PMC2597031.
      Citations: 135     Fields:    Translation:AnimalsCells
    47. Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15; 17(12):1718-27. PMID: 18321864; PMCID: PMC2666042.
      Citations: 121     Fields:    Translation:HumansAnimals
    48. Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 04; 56(1):58-65. PMID: 17920015; PMCID: PMC2198899.
      Citations: 251     Fields:    Translation:AnimalsCells
    49. Xue M, Reim K, Chen X, Chao HT, Deng H, Rizo J, Brose N, Rosenmund C. Distinct domains of complexin I differentially regulate neurotransmitter release. Nat Struct Mol Biol. 2007 Oct; 14(10):949-58. PMID: 17828276; PMCID: PMC4894543.
      Citations: 113     Fields:    Translation:AnimalsCells
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