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. . 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. . 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. . 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. . 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, Denomm茅-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. . 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. . 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. . *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, Bl眉mlein 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. . *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. . 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. . 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. . 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. . 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. . 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. . Neurology Genetics. PMID 33553620.
Murdock, DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, M眉ller MF, Y茅pez 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. . 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. . 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, K眉ry 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) . *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. . eLife. PMID 32073399.
Harnish JM, Deal SL, UDN, Chao HT, Wangler MF, Yamamoto S. 2019. . 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. . 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. "." Am J Med Genet A. 2018 December 18 Pubmed PMID:
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. "." Am J Med Genet A. 2017 Pubmed PMID:
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Members of the UDN, Hieter P, Boycott KM, Campeau PM, Bellen HJ. "." Genetics. 2017 September Pubmed PMID:
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. ".." Genome Med. 2017 September 21 Pubmed PMID:
Chao HT, Liu L, Bellen HJ. "." Semin Cell Dev Biol. 2017 May 22 Pubmed PMID:
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. "." American Journal of Human Genetics. 2017 May 11 Pubmed PMID:
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. "." American Journal of Human Genetics. 2016 December 22 Pubmed PMID:
Chang CL, Trimbuch T, Chao HT, Jordan JC, Herman M, Rosenmund C.. "." Journal of Neuroscience. 2014 January Pubmed PMID:
Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM.. ".." Journal of Neuroscience. 2013 December Pubmed PMID:
Chao HT and Zoghbi HY.. "." Nature Neuroscience. 2012 January Pubmed PMID:
Wagnon JL, Mahaffey CL, Sun W, Yang Y, Chao HT, Frankel WN.. ".." Genes Brain Behav. 2011 July Pubmed PMID:
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.. ".." Nature. 2010 November Pubmed PMID:
Xue M*, Craig TK*, Xu J, Chao HT, Rizo J, Rosenmund C.. ".." Nat Struct Mol Biol.. 2010 May Pubmed PMID:
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.. ".." Proc Natl Acad Sci.. 2009 December Pubmed PMID:
Rose MF*, Ren J*, Ahmad KA*, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY.. ".." Neuron. 2009 November Pubmed PMID:
Chao HT, Zoghbi HY.. ".." Proc Natl Acad Sci.. 2009 March Pubmed PMID:
Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goudling EH, Sullivan E, Tecott LH, Zoghbi HY.. ".." Neuron. 2008 September Pubmed PMID:
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL.. ".." Hum Mol Genet.. 2008 June Pubmed PMID:
Chao HT, Zoghbi HY, Rosenmund C.. ".." Neuron. 2007 October Pubmed PMID:
Xue M, Reim K, Chen X, Chao HT, Deng H, Rizo J, Brose N, Rosenmund C.. ".." Nat Struct Mol Biol.. 2007 October Pubmed PMID:
