Search results

  • Defining the role of common variation in the genomic and biological architecture of adult human height

    Wood, A. R., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., Chu, A. Y., Estrada, K., Luan, J., Kutalik, Z., Amin, N., Buchkovich, M. L., Croteau-Chonka, D. C., Day, F. R., Duan, Y., Fall, T., Fehrmann, R., Ferreira, T., Jackson, A. U. & Karjalainen, J. & 425 others, Lo, K. S., Locke, A., Mägi, R., Mihailov, E., Porcu, E., Randall, J. C., Scherag, A., Vinkhuyzen, A. A. E., Westra, H. J., Winkler, T. W., Workalemahu, T., Zhao, J. H., Absher, D., Albrecht, E., Anderson, D., Baron, J., Beekman, M., Demirkan, A., Ehret, G. B., Feenstra, B., Feitosa, M. F., Fischer, K., Fraser, R. M., Goel, A., Gong, J., Justice, A. E., Kanoni, S., Kleber, M. E., Kristiansson, K., Lim, U., Lotay, V., Lui, J. C., Mangino, M., Leach, I. M., Medina-Gomez, C., Nalls, M. A., Nyholt, D. R., Palmer, C. D., Pasko, D., Pechlivanis, S., Prokopenko, I., Ried, J. S., Ripke, S., Shungin, D., Stancáková, A., Strawbridge, R. J., Sung, Y. J., Tanaka, T., Teumer, A., Trompet, S., Van Der Laan, S. W., Van Setten, J., Van Vliet-Ostaptchouk, J. V., Wang, Z., Yengo, L., Zhang, W., Afzal, U., Ärnlöv, J., Arscott, G. M., Bandinelli, S., Barrett, A., Bellis, C., Bennett, A. J., Berne, C., Blüher, M., Bolton, J. L., Böttcher, Y., Boyd, H. A., Bruinenberg, M., Buckley, B. M., Buyske, S., Caspersen, I. H., Chines, P. S., Clarke, R., Claudi-Boehm, S., Cooper, M., Daw, E. W., De Jong, P. A., Deelen, J., Delgado, G., Denny, J. C., Dhonukshe-Rutten, R., Dimitriou, M., Doney, A. S. F., Dörr, M., Eklund, N., Eury, E., Folkersen, L., Garcia, M. E., Geller, F., Giedraitis, V., Go, A. S., Grallert, H., Grammer, T. B., Gräßler, J., Grönberg, H., De Groot, L. C. P. G. M., Groves, C. J., Haessler, J., Hall, P., Haller, T., Hallmans, G., Hannemann, A., Hartman, C. A., Hassinen, M., Hayward, C., Heard-Costa, N. L., Helmer, Q., Hemani, G., Henders, A. K., Hillege, H. L., Hlatky, M. A., Hoffmann, W., Hoffmann, P., Holmen, O., Houwing-Duistermaat, J. J., Illig, T., Isaacs, A., James, A. L., Jeff, J., Johansen, B., Johansson, Å., Jolley, J., Juliusdottir, T., Junttila, J., Kho, A. N., Kinnunen, L., Klopp, N., Kocher, T., Kratzer, W., Lichtner, P., Lind, L., Lindström, J., Lobbens, S., Lorentzon, M., Lu, Y., Lyssenko, V., Magnusson, P. K. E., Mahajan, A., Maillard, M., McArdle, W. L., McKenzie, C. A., McLachlan, S., McLaren, P. J., Menni, C., Merger, S., Milani, L., Moayyeri, A., Monda, K. L., Morken, M. A., Müller, G., Müller-Nurasyid, M., Musk, A. W., Narisu, N., Nauck, M., Nolte, I. M., Nöthen, M. M., Oozageer, L., Pilz, S., Rayner, N. W., Renstrom, F., Robertson, N. R., Rose, L. M., Roussel, R., Sanna, S., Scharnagl, H., Scholtens, S., Schumacher, F. R., Schunkert, H., Scott, R. A., Sehmi, J., Seufferlein, T., Shi, J., Silventoinen, K., Smit, J. H., Smith, A. V., Smolonska, J., Stanton, A. V., Stirrups, K., Stott, D. J., Stringham, H. M., Sundström, J., Swertz, M. A., Syvänen, A. C., Tayo, B. O., Thorleifsson, G., Tyrer, J. P., Van Dijk, S., Van Schoor, N. M., Van Der Velde, N., Van Heemst, D., Van Oort, F. V. A., Vermeulen, S. H., Verweij, N., Vonk, J. M., Waite, L. L., Waldenberger, M., Wennauer, R., Wilkens, L. R., Willenborg, C., Wilsgaard, T., Wojczynski, M. K., Wong, A., Wright, A. F., Zhang, Q., Arveiler, D., Bakker, S. J. L., Beilby, J., Bergman, R. N., Bergmann, S., Biffar, R., Blangero, J., Boomsma, D. I., Bornstein, S. R., Bovet, P., Brambilla, P., Brown, M. J., Campbell, H., Caulfield, M. J., Chakravarti, A., Collins, R., Collins, F. S., Crawford, D. C., Cupples, L. A., Danesh, J., De Faire, U., Den Ruijter, H. M., Erbel, R., Erdmann, J., Eriksson, J. G., Farrall, M., Ferrannini, E., Ferrières, J., Ford, I., Forouhi, N. G., Forrester, T., Gansevoort, R. T., Gejman, P. V., Gieger, C., Golay, A., Gottesman, O., Gudnason, V., Gyllensten, U., Haas, D. W., Hall, A. S., Harris, T. B., Hattersley, A. T., Heath, A. C., Hengstenberg, C., Hicks, A. A., Hindorff, L. A., Hingorani, A. D., Hofman, A., Hovingh, G. K., Humphries, S. E., Hunt, S. C., Hypponen, E., Jacobs, K. B., Jarvelin, M. R., Jousilahti, P., Jula, A. M., Kaprio, J., Kastelein, J. J. P., Kayser, M., Kee, F., Keinanen-Kiukaanniemi, S. M., Kiemeney, L. A., Kooner, J. S., Kooperberg, C., Koskinen, S., Kovacs, P., Kraja, A., Kumari, M., Kuusisto, J., Lakka, T. A., Langenberg, C., Le Marchand, L., Lehtimäki, T., Lupoli, S., Madden, P. A. F., Männistö, S., Manunta, P., Marette, A., Matise, T. C., McKnight, B., Meitinger, T., Moll, F. L., Montgomery, G. W., Morris, A. D., Morris, A. P., Murray, J. C., Nelis, M., Ohlsson, C., Oldehinkel, A. J., Ong, K. K., Ouwehand, W. H., Pasterkamp, G., Peters, A., Pramstaller, P. P., Price, J. F., Qi, L., Raitakari, O. T., Rankinen, T., Rao, D. C., Rice, T. K., Ritchie, M., Rudan, I., Salomaa, V., Samani, N. J., Saramies, J., Sarzynski, M. A., Schwarz, P. E. H., Sebert, S., Sever, P., Shuldiner, A. R., Sinisalo, J., Steinthorsdottir, V., Stolk, R. P., Tardif, J. C., Tönjes, A., Tremblay, A., Tremoli, E., Virtamo, J., Vohl, M. C., Amouyel, P., Asselbergs, F. W., Assimes, T. L., Bochud, M., Boehm, B. O., Boerwinkle, E., Bottinger, E. P., Bouchard, C., Cauchi, S., Chambers, J. C., Chanock, S. J., Cooper, R. S., De Bakker, P. I. W., Dedoussis, G., Ferrucci, L., Franks, P. W., Froguel, P., Groop, L. C., Haiman, C. A., Hamsten, A., Hayes, M. G., Hui, J., Hunter, D. J., Hveem, K., Jukema, J. W., Kaplan, R. C., Kivimaki, M., Kuh, D., Laakso, M., Liu, Y., Martin, N. G., März, W., Melbye, M., Moebus, S., Munroe, P. B., Njølstad, I., Oostra, B. A., Palmer, C. N. A., Pedersen, N. L., Perola, M., Pérusse, L., Peters, U., Powell, J. E., Power, C., Quertermous, T., Rauramaa, R., Reinmaa, E., Ridker, P. M., Rivadeneira, F., Rotter, J. I., Saaristo, T. E., Saleheen, D., Schlessinger, D., Slagboom, P. E., Snieder, H., Spector, T. D., Strauch, K., Stumvoll, M., Tuomilehto, J., Uusitupa, M., Van Der Harst, P., Völzke, H., Walker, M., Wareham, N. J., Watkins, H., Wichmann, H. E., Wilson, J. F., Zanen, P., Deloukas, P., Heid, I. M., Lindgren, C. M., Mohlke, K. L., Speliotes, E. K., Thorsteinsdottir, U., Barroso, I., Fox, C. S., North, K. E., Strachan, D. P., Beckmann, J. S., Berndt, S. I., Boehnke, M., Borecki, I. B., McCarthy, M. I., Metspalu, A., Stefansson, K., Uitterlinden, A. G., Van Duijn, C. M., Franke, L., Willer, C. J., Price, A. L., Lettre, G., Loos, R. J. F., Weedon, M. N., Ingelsson, E., O'Connell, J. R., Abecasis, G. R., Chasman, D. I., Goddard, M. E., Visscher, P. M., Hirschhorn, J. N. & Frayling, T. M., Nov 5 2014, In: Nature Genetics. 46, 11, p. 1173-1186 14 p.

    Research output: Contribution to journalArticlepeer-review

    1388 Scopus citations
  • Definition of Phenotype

    Wojczynski, M. K. & Tiwari, H. K., 2008, Genetic Dissection of Complex Traits. Rao, D. C. & Gu, C. (eds.). p. 75-105 31 p. (Advances in Genetics; vol. 60).

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

    61 Scopus citations
  • Delayed grasping of a Müller-Lyer figure

    Djoussé, L., Pankow, J. S., Arnett, D. K., Zhang, Y., Hong, Y., Province, M. A. & Ellison, R. C., 2001, In: Experimental Brain Research. 141, 2, p. 166-173 8 p.

    Research output: Contribution to journalArticlepeer-review

    91 Scopus citations
  • Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

    University of Washington Center for Mendelian Genomics, Ushiki, A., Zhang, Y., Xiong, C., Zhao, J., Georgakopoulos-Soares, I., Kane, L., Jamieson, K., Bamshad, M. J., Nickerson, D. A., Shen, Y., Lettice, L. A., Silveira-Lucas, E. L., Petit, F. & Ahituv, N., Dec 1 2021, In: Nature communications. 12, 1, 2282.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

    Ushiki, A., Sheng, R. R., Zhang, Y., Zhao, J., Nobuhara, M., Murray, E., Ruan, X., Rios, J. J., Wise, C. A. & Ahituv, N., Mar 26 2024, In: Cell Reports. 43, 3, 113907.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    3 Scopus citations
  • Deletion of Rb1 induces both hyperproliferation and cell death in murine germinal center B cells

    He, Z., O'Neal, J., Wilson, W. C., Mahajan, N., Luo, J., Wang, Y., Su, M. Y., Lu, L., Skeath, J. B., Bhattacharya, D. & Tomasson, M. H., Mar 1 2016, In: Experimental Hematology. 44, 3, p. 161-165.e4

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • Delila system tools

    Schneider, T. D., Stormo, G. D., Yarus, M. A. & Gold, L., Jan 11 1984, In: Nucleic acids research. 12, 1 PART1, p. 129-140 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    35 Scopus citations
  • De novo DNA methylation through the 5’-segment of the H19 ICR maintains its imprint during early embryogenesis

    Matsuzaki, H., Okamura, E., Takahashi, T., Ushiki, A., Nakamura, T., Nakano, T., Hata, K., Fukamizu, A. & Tanimoto, K., Nov 15 2015, In: Development (Cambridge). 142, 22, p. 3821-3832 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    26 Scopus citations
  • 47 Scopus citations
  • De novo genic mutations among a Chinese autism spectrum disorder cohort

    Wang, T., Guo, H., Xiong, B., Stessman, H. A. F., Wu, H., Coe, B. P., Turner, T. N., Liu, Y., Zhao, W., Hoekzema, K., Vives, L., Xia, L., Tang, M., Ou, J., Chen, B., Shen, Y., Xun, G., Long, M., Lin, J. & Kronenberg, Z. N. & 9 others, Peng, Y., Bai, T., Li, H., Ke, X., Hu, Z., Zhao, J., Zou, X., Xia, K. & Eichler, E. E., Nov 8 2016, In: Nature communications. 7, 13316.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    283 Scopus citations
  • De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

    Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A. & Ashley, E. A. & 182 others, Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1377-1393 17 p.

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

    Undiagnosed Diseases Network, Ward, S. K., Wadley, A., Tsai, C. H., Benke, P. J., Emrick, L., Fisher, K., Houck, K. M., Dai, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G. & Balasubramanyam, A. & 181 others, Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.

    Research output: Contribution to journalArticlepeer-review

  • De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

    Furey, C. G., Choi, J., Jin, S. C., Zeng, X., Timberlake, A. T., Nelson-Williams, C., Mansuri, M. S., Lu, Q., Duran, D., Panchagnula, S., Allocco, A., Karimy, J. K., Khanna, A., Gaillard, J. R., DeSpenza, T., Antwi, P., Loring, E., Butler, W. E., Smith, E. R. & Warf, B. C. & 25 others, Strahle, J. M., Limbrick, D. D., Storm, P. B., Heuer, G., Jackson, E. M., Iskandar, B. J., Johnston, J. M., Tikhonova, I., Castaldi, C., López-Giráldez, F., Bjornson, R. D., Knight, J. R., Bilguvar, K., Mane, S., Alper, S. L., Haider, S., Guclu, B., Bayri, Y., Sahin, Y., Apuzzo, M. L. J., Duncan, C. C., DiLuna, M. L., Günel, M., Lifton, R. P. & Kahle, K. T., Jul 25 2018, In: Neuron. 99, 2, p. 302-314.e4

    Research output: Contribution to journalArticlepeer-review

    Open Access
    116 Scopus citations
  • De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

    Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Wakimoto, H., Gorham, J., Jin, S. C., Deanfield, J., Giardini, A., Porter, G. A., Kim, R., Bilguvar, K., López-Giráldez, F., Tikhonova, I., Mane, S. & Romano-Adesman, A. & 21 others, Qi, H., Vardarajan, B., Ma, L., Daly, M., Roberts, A. E., Russell, M. W., Mital, S., Newburger, J. W., Gaynor, J. W., Breitbart, R. E., Iossifov, I., Ronemus, M., Sanders, S. J., Kaltman, J. R., Seidman, J. G., Brueckner, M., Gelb, B. D., Goldmuntz, E., Lifton, R. P., Seidman, C. E. & Chung, W. K., Dec 4 2015, In: Science. 350, 6265, p. 1262-1266 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    627 Scopus citations
  • De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

    Wallmeier, J., Frank, D., Shoemark, A., Nöthe-Menchen, T., Cindric, S., Olbrich, H., Loges, N. T., Aprea, I., Dougherty, G. W., Pennekamp, P., Kaiser, T., Mitchison, H. M., Hogg, C., Carr, S. B., Zariwala, M. A., Ferkol, T., Leigh, M. W., Davis, S. D., Atkinson, J. & Dutcher, S. K. & 10 others, Knowles, M. R., Thiele, H., Altmüller, J., Krenz, H., Wöste, M., Brentrup, A., Ahrens, F., Vogelberg, C., Morris-Rosendahl, D. J. & Omran, H., Nov 7 2019, In: American journal of human genetics. 105, 5, p. 1030-1039 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    150 Scopus citations
  • De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

    Yale Center for Genome Analysis, Jan 2023, In: Human genetics. 142, 1, p. 21-32 12 p.

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • De novo MYH9 mutation in congenital scalp hemangioma

    Fomchenko, E. I., Duran, D., Jin, S. C., Dong, W., Erson-Omay, E. Z., Antwi, P., Allocco, A., Gaillard, J. R., Huttner, A., Gunel, M., Diluna, M. L. & Kahle, K. T., Aug 2018, In: Cold Spring Harbor molecular case studies. 4, 4, a002998.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • 97 Scopus citations
  • 39 Scopus citations
  • De novo transcriptome analysis of Medicago falcata reveals novel insights about the mechanisms underlying abiotic stress-responsive pathway

    Miao, Z., Xu, W., Li, D., Hu, X., Liu, J., Zhang, R., Tong, Z., Dong, J., Su, Z., Zhang, L., Sun, M., Li, W., Du, Z., Hu, S. & Wang, T., Oct 19 2015, In: BMC genomics. 16, 1, p. 1-18 18 p., 818.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    59 Scopus citations
  • de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

    Ng, J. K., Vats, P., Fritz-Waters, E., Sarkar, S., Sams, E. I., Padhi, E. M., Payne, Z. L., Leonard, S., West, M. A., Prince, C., Trani, L., Jansen, M., Vacek, G., Samadi, M., Harkins, T. T., Pohl, C. & Turner, T. N., Dec 2022, In: Human mutation. 43, 12, p. 1979-1993 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

    Timberlake, A. T., McGee, S., Allington, G., Kiziltug, E., Wolfe, E. M., Stiegler, A. L., Boggon, T. J., Sanyoura, M., Morrow, M., Wenger, T. L., Fernandes, E. M., Caluseriu, O., Persing, J. A., Jin, S. C., Lifton, R. P., Kahle, K. T. & Kruszka, P., May 4 2023, In: American journal of human genetics. 110, 5, p. 846-862 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • De novo variants in DENND5B cause a neurodevelopmental disorder

    Undiagnosed Diseases Network, Scala, M., Tomati, V., Ferla, M., Lena, M., Cohen, J. S., Fatemi, A., Brokamp, E., Bican, A., Phillips, J. A., Koziura, M. E., Nicouleau, M., Rio, M., Siquier, K., Boddaert, N., Musante, I., Tamburro, S., Baldassari, S., Iacomino, M. & Scudieri, P. & 181 others, Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Grajewski, A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Petcharet, L., Posey, J. E., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Open Access
    4 Scopus citations
  • De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

    Ahmad, N., Fazeli, W., Schließke, S., Lesca, G., Gokce-Samar, Z., Mekbib, K. Y., Jin, S. C., Burton, J., Hoganson, G., Petersen, A., Gracie, S., Granger, L., Bartels, E., Oppermann, H., Kundishora, A., Till, M., Milleret-Pignot, C., Dangerfield, S., Viskochil, D. & Anderson, K. J. & 11 others, Palculict, T. B., Schnur, R. E., Wentzensen, I. M., Tiller, G. E., Kahle, K. T., Kunz, W. S., Burkart, S., Simons, M., Sticht, H., Abou Jamra, R. & Neuser, S., Nov 2023, In: Pediatric Neurology. 148, p. 164-171 8 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
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  • Depleting gene activities in early drosophila embryos with the "maternal-Gal4-shRNA" system

    Staller, M. V., Yan, D., Randklev, S., Bragdon, M. D., Wunderlich, Z. B., Tao, R., Perkins, L. A., De Pace, A. H. & Perrimon, N., Jan 2013, In: Genetics. 193, 1, p. 51-61 11 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    74 Scopus citations
  • Derivation of trophoblast stem cells from naïve human pluripotent stem cells

    Dong, C., Beltcheva, M., Gontarz, P., Zhang, B., Popli, P., Fischer, L. A., Khan, S. A., Park, K. M., Yoon, E. J., Xing, X., Kommagani, R., Wang, T., Solnica-Krezel, L. & Theunissen, T. W., Feb 2020, In: eLife. 9, e52504.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    216 Scopus citations
  • Design of a high-throughput assay for alternative splicing using polymerase colonies.

    Buhler, J. D., Souvenir, R. M., Zhang, W. & Mitra, R. D., 2004, In: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. p. 5-16 12 p.

    Research output: Contribution to journalArticlepeer-review

    1 Scopus citations
  • Detecting coevolution of functionally related proteins for automated protein annotation

    Kwan, A. L., Dutcher, S. K. & Stormo, G. D., 2010, 10th IEEE International Conference on Bioinformatics and Bioengineering 2010, BIBE 2010. p. 99-105 7 p. 5521705. (10th IEEE International Conference on Bioinformatics and Bioengineering 2010, BIBE 2010).

    Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

    Open Access
    3 Scopus citations
  • Detection of a divergent Parainfluenza 4 virus in an adult patient with influenza like illness using next-generation sequencing

    Bialasiewicz, S., McVernon, J., Nolan, T., Lambert, S. B., Zhao, G., Wang, D., Nissen, M. D. & Sloots, T. P., May 19 2014, In: BMC Infectious Diseases. 14, 1, 275.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
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  • Detection of deletions in the mitochondrial genome of Caenorhabditis elegans

    Melov, S., Hertz, G. Z., Stormo, G. D. & Johnson, T. E., Mar 25 1994, In: Nucleic acids research. 22, 6, p. 1075-1078 4 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    63 Scopus citations
  • Detection of novel sequences related to African swine fever virus in human serum and sewage

    Loh, J., Zhao, G., Presti, R. M., Holtz, L. R., Finkbeiner, S. R., Droit, L., Villasana, Z., Todd, C., Pipas, J. M., Calgua, B., Girones, R., Wang, D. & Virgin, H. W., Dec 2009, In: Journal of virology. 83, 24, p. 13019-13025 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    43 Scopus citations
  • Detection of rare genomic variants from pooled sequencing using SPLINTER

    Vallania, F., Ramos, E., Cresci, S., Mitra, R. D. & Druley, T. E., Jun 23 2012, In: Journal of Visualized Experiments. 64, p. 1-9 9 p., e3943.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    8 Scopus citations
  • Detection of viral pathogens in high grade gliomas from unmapped next-generation sequencing data

    Cimino, P. J., Zhao, G., Wang, D., Sehn, J. K., Lewis, J. S. & Duncavage, E. J., Jun 2014, In: Experimental and Molecular Pathology. 96, 3, p. 310-315 6 p.

    Research output: Contribution to journalArticlepeer-review

    43 Scopus citations
  • Determination of specificity influencing residues for key transcription factor families

    Patel, R. Y., Garde, C. & Stormo, G. D., Sep 1 2015, In: Quantitative Biology. 3, 3, p. 115-123 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    2 Scopus citations
  • Determining the specificity of protein-DNA interactions

    Stormo, G. D. & Zhao, Y., Nov 1 2010, In: Nature Reviews Genetics. 11, 11, p. 751-760 10 p.

    Research output: Contribution to journalReview articlepeer-review

    260 Scopus citations
  • Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes

    Garcia, E. L., Lu, Z., Meers, M. P., Praveen, K. & Matera, A. G., Nov 2013, In: RNA. 19, 11, p. 1510-1516 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    40 Scopus citations
  • Developmental biomarkers of aging in Caenorhabditis elegans

    Pincus, Z. & Slack, F. J., May 2010, In: Developmental Dynamics. 239, 5, p. 1306-1314 9 p.

    Research output: Contribution to journalReview articlepeer-review

    49 Scopus citations
  • Developmental enhancers revealed by extensive DNA methylome maps of zebrafish early embryos

    Lee, H. J., Lowdon, R. F., Maricque, B., Zhang, B., Stevens, M., Li, D., Johnson, S. L. & Wang, T., Feb 20 2015, In: Nature communications. 6, 6315.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    71 Scopus citations
  • Developmental expression of glial fibrillary acidic protein mRNA in mouse forebrain germinal zones - Implications for stem cell biology

    Fox, I. J., Paucar, A. A., Nakano, I., Mottahedeh, J., Dougherty, J. D. & Kornblum, H. I., Oct 15 2004, In: Developmental Brain Research. 153, 1, p. 121-125 5 p.

    Research output: Contribution to journalArticlepeer-review

    32 Scopus citations
  • Developmental Heterogeneity of Microglia and Brain Myeloid Cells Revealed by Deep Single-Cell RNA Sequencing

    Li, Q., Cheng, Z., Zhou, L., Darmanis, S., Neff, N. F., Okamoto, J., Gulati, G., Bennett, M. L., Sun, L. O., Clarke, L. E., Marschallinger, J., Yu, G., Quake, S. R., Wyss-Coray, T. & Barres, B. A., Jan 16 2019, In: Neuron. 101, 2, p. 207-223.e10

    Research output: Contribution to journalArticlepeer-review

    Open Access
    695 Scopus citations
  • Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses

    Samara, A., Rahn, R., Neyman, O., Park, K. Y., Samara, A., Marshall, B., Dougherty, J. & Hershey, T., Dec 3 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 279.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    27 Scopus citations
  • Developmentally regulated alternative splicing of transcripts from the Drosophila homeotic gene Antennapedia can produce four different proteins.

    Bermingham, J. R. & Scott, M. P., Oct 1988, In: The EMBO journal. 7, 10, p. 3211-3222 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    39 Scopus citations
  • Developmentally regulated expression of pleiotrophin, a novel heparin binding growth factor, in the nervous system of the rat

    Wanaka, A., Carroll, S. L. & Milbrandt, J., Mar 19 1993, In: Developmental Brain Research. 72, 1, p. 133-144 12 p.

    Research output: Contribution to journalArticlepeer-review

    75 Scopus citations
  • Developmental Pathways Are Epigenetically Reprogrammed during Lung Cancer Brain Metastasis

    Karlow, J. A., Devarakonda, S., Xing, X., Jang, H. S., Govindan, R., Watson, M. & Wang, T., Aug 1 2022, In: Cancer research. 82, 15, p. 2692-2703 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations
  • Developmental Plasticity Is Bound by Pluripotency and the Fgf and Wnt Signaling Pathways

    Morris, S. A., Guo, Y. & Zernicka-Goetz, M., Oct 25 2012, In: Cell Reports. 2, 4, p. 756-765 10 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    84 Scopus citations
  • Development and evaluation of a study design typology for human research.

    Carini, S., Pollock, B. H., Lehmann, H. P., Bakken, S., Barbour, E. M., Gabriel, D., Hagler, H. K., Harper, C. R., Mollah, S. A., Nahm, M., Nguyen, H. H., Scheuermann, R. H. & Sim, I., 2009, In: AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium. 2009, p. 81-85 5 p.

    Research output: Contribution to journalArticlepeer-review

    9 Scopus citations