Saether KB, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Blieden L, 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. 2024. medRxiv. Accepted. Genome Research. September 2024.
LaFlamme CW, Tastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Fuerte EPA, Galey M, Goffena J, Gibson SB, Allan TJ, 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, 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 genome-wide DNA methylation analysis in genetically unsolved developmental and epileptic encephalopathies and refinement of a CHD2 episignature. 2024. Nature Communications. PMID 37873138.
Copeland I, Gupta-Malhotra M, Hashmi SS, Wonkam-Tingang E, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Coban-Akdemir ZH, Scott DA, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Exome sequencing in childhood onset essential hypertension identifies a putative role for SYNE1 in disease pathogenesis. 2024. JCI Insight. PMID 38716726.
Li S, Zhao S, Sinzon JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage L, Hubshman MW, 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 SCS, Liu Z, Undiagnosed Diseases Network, Eng CM, Lee B, Liu P. The clinical utility and diagnostic implementation of patient-cell transdifferentiation followed by RNA sequencing. 2024. American Journal of Human Genetics. PMID 38593811.
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, Denommé-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. 2024. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. PMID 38181735.
Hayden AN, Brandel KL, Merlau PR, Vijayakumar P, Leptich EJ, Pietryk EQ, Gaytan ES, Ni CW, Chao HT, Rosenfeld JA, Arey RN. 2024. Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition. bioRxiv. PMID 38260399.
Corriveau M*, Amaya S*, Koebel MC*, Lerma VC, Michener S, Turner A, Schultz RJ, Seto E, Diaz-Medina G, Craigen WJ, Swann JW, Xue M, Chao HT. 2023. PAK1 c.1409T>A (p.Leu470Gln) de novo variant disrupts the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. *equal contribution. American Journal of Medical Genetics Part A. PMID 36905087.
Paul MS*, Duncan AR*, Genetti C, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Saneto R, Zampino G, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shaked BP, Ortal B, Zeev BB, Torti E, Schwan K, Aycinena AP, Banka S, Douzgou S, Jackson A, Pirt H, Ismayilova N, Pan H, Chao HT*,^, Agrawal PA*,^. 2022. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. *equal contribution. ^co-corresponding authors. American Journal of Human Genetics. PMID 36528028.
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 BH, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network. 2022. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American Journal of Medical Genetics: Part A. PMID 35934918.
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. PMID 35871307.
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: 19914183
Chao 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
