Hsiao-Tuan Chao Lab

Hsiao-Tuan Chao Lab Publications


Thomas AX, Link N, Demmler-Harrison G, Mizerik E, Robak LA, Michels S, Cohen JS, Comi A, Prontera P, di Pianella AV, Dicara G, Garavelli L, Guiseppe S, Fusco C, Zuntini R, Parks K, Sherr E, Hashim MO, Alkuraya F, Partlow J, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. 2022. ANKLE2-related microcephaly: a variable microcephaly syndrome resembling Zika infection. Annals of Clinical and Translational Neurology. In press.

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. 2022. Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships. Annals of Neurology. PMID 35340043.

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. 2022. 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. 2022. American Journal of Medical Genetics Part A. PMID 35194938.

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, Brady C, Chao HT, Chung H, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, Gerard A, Schwaibold EMC, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. 2022. Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental disorders. bioRxiv. 424813 [Preprint 2020].  https://doi.org/10.1101/2020.12.30.424813. Cell Reports. PMID 35294868/ 

Calame D, Hainlen M, Takacs D, Ferrante L, Pence K, Emrick LT, Chao HT. 2021. EIF2AK2-related neurodevelopmental disorder with leukoencephalopathy mimics Pelizaeus-Merzbacher disease. Neurology Genetics. PMID 33553620.

Murdock, DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez Y, 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. 2020. Transcriptome-directed genomic analysis accelerates diagnosis and overcomes limitations of exome and chromosomal microarray. Journal of Clinical Investigation. PMID 33001864.

Chung HL, Mao X, Wang H, Park YJ, Shu L, 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. 2020. De novo variants in CDK19 are associated with a new syndrome with intellectual disability and epileptic encephalopathy. American Journal of Human Genetics. PMID 32330417.

Mao D, Reuter CM, Ruzhnikov MRV, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, UDN, Lee BH, Thiffault I, Agrawal PB*, Bernstein JA*, Bellen HJ*, Chao HT*. 2020. (Epub March 2020) De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation. *equal contribution. American Journal of Human Genetics.PMID 32197074.

Chen W, Cai ZL, Chao ES, Chen H, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. 2020. Stxbp1 haploinsufficiency impairs cortical inhibition and mediates key neurological features of STXBP1 encephalopathy. eLife. PMID 32073399.

Harnish JM, Deal SL, UDN, Chao HT, Wangler MF, Yamamoto S. 2019. In vivo functional study of disease-associated rare human variants using Drosophila. J. Vis. Exp. PMID 31498321.

Blackburn ATM, Bekheirnia N, Uma VC, Rosenfeld JA, Bainbridge MN, Yang Y, Madan-Khetarpal S, Delgado M, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al Gazali L, Al Shamsi AMSM, Gomez-Ospina N, Chao HT, Mirzaa G, Scheuerle A, Kukolich MK, Ji M, McCrea PD, Scaglia F, Eng C, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. 2019. DYRK1A-related intellectual disability: a syndrome that causes congenital anomalies of the kidney and urinary tract. Genetics in Medicine. PMID 31263215

Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Lee B, 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. 2018 December 18 Pubmed PMID: 30569621

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 Pubmed PMID: 28815871

Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the UDN, Hieter P, Boycott KM, Campeau PM, Bellen HJ. "Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research." Genetics. 2017 September Pubmed PMID: 28874452

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......Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. "Identification of novel candidate disease genes from de novo exonic copy number variants.." Genome Med. 2017 September 21 Pubmed PMID: 28934986

Chao HT, Liu L, Bellen HJ. "Building dialogues between clinical and biomedical research through cross-species collaborations." Semin Cell Dev Biol. 2017 May 22 Pubmed PMID: 28579453

Wang J*, Al-Ouran R*, Hu Y*, Kim SY*, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Members of the UDN, Perrimon N, Liu Z, Bellen HJ. "MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome." American Journal of Human Genetics. 2017 May 11 Pubmed PMID: 28502612

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." American Journal of Human Genetics. 2016 December 22 Pubmed PMID: 28017372

Chang CL, Trimbuch T, Chao HT, Jordan JC, Herman M, Rosenmund C.. "Investigation of synapse formation and function in a Glutamatergic-GABAergic two-neuron microcircuit." Journal of Neuroscience. 2014 January Pubmed PMID: 24431444

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.." Journal of Neuroscience. 2013 December Pubmed PMID: 24336718

Chao HT and Zoghbi HY.. "MeCP2: only 100% will do." Nature Neuroscience. 2012 January Pubmed PMID: 22281712

Wagnon JL, Mahaffey CL, Sun W, Yang Y, Chao HT, Frankel WN.. "Etiology of a genetically complex seizure disorder in Celf4 mutant mice.." Genes Brain Behav. 2011 July Pubmed PMID: 21745337

Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Heintz N, Ekker M, Rubenstein J, Noebels JL, Rosenmund C, Zoghbi HY.. "MeCP2 deficiency in GABAergic neurons mediates abnormal social behavior and key features of Rett syndrome.." Nature. 2010 November Pubmed PMID: 21068835

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 Pubmed PMID: 20400951

Samaco RC, Mandel-Brehm C, Chao HT, Fyffe SL, Sun Y, Ren J, Hyland K, Maricich SM, Deneris ES, Greer JJ, Humphreys P, Percy A, Glaze DG, Thaller C, 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.. 2009 December Pubmed PMID: 20007372

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 November Pubmed PMID: 19914183Chao HT, Zoghbi HY.. "The yin and yang of MeCP2 phosphorylation.." Proc Natl Acad Sci.. 2009 March Pubmed PMID: 19293386

Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goudling EH, Sullivan E, Tecott LH, Zoghbi HY.. "Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, anxiety, and aggression.." Neuron. 2008 September Pubmed PMID: 18817733

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 June Pubmed PMID: 18321864

Chao HT, Zoghbi HY, Rosenmund C.. "MeCP2 controls synaptic strength in glutamatergic neurons by regulating synapse number.." Neuron. 2007 October Pubmed PMID: 17920015

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 October Pubmed PMID: 17828276