Department of Genetics

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 journal › Article › peer-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 proceeding › Chapter › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

Open Access

26 Scopus citations

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Undiagnosed Diseases Network, Apr 2 2020, In: American journal of human genetics. 106, 4, p. 570-583 14 p.

Research output: Contribution to journal › Article › peer-review

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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

Open Access

9 Scopus citations

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, Nov 1 2018, In: American journal of human genetics. 103, 5, p. 666-678 13 p.

Research output: Contribution to journal › Article › peer-review

97 Scopus citations

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

Undiagnosed Diseases Network, Oct 3 2019, In: American journal of human genetics. 105, 4, p. 854-868 15 p.

Research output: Contribution to journal › Article › peer-review

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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

4 Scopus citations

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Undiagnosed Diseases Network, Baldridge, D., Bellen, H. J., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2023, In: Genetics in Medicine. 25, 6, 100833.

Research output: Contribution to journal › Article › peer-review

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 journal › Article › peer-review

1 Scopus citations

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Undiagnosed Diseases Network, Apr 2025, In: Genetics in Medicine. 27, 4, 101369.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In: American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 proceeding › Conference contribution › peer-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 journal › Article › peer-review

Open Access

11 Scopus citations

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Undiagnosed Diseases Network, Jul 2021, In: Molecular Genetics and Genomic Medicine. 9, 7, e1665.

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Review article › peer-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 journal › Article › peer-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 journal › Review article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Review article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review

9 Scopus citations

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