Department of Genetics

Genome-wide linkage scans for fasting glucose, insulin, and insulin resistance in the National Heart, Lung, and Blood Institute Family Blood Pressure Program: Evidence of linkages to chromosome 7q36 and 19q13 from meta-analysis

An, P., Freedman, B. I., Hanis, C. L., Chen, Y. D. I., Weder, A. B., Schork, N. J., Boerwinkle, E., Province, M. A., Hsiung, C. A., Wu, X., Quertermous, T. & Rao, D. C., Mar 2005, In: Diabetes. 54, 3, p. 909-914 6 p.

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56 Scopus citations

Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists

Johnson, A. D., Yanek, L. R., Chen, M. H., Faraday, N., Larson, M. G., Tofler, G., Lin, S. J., Kraja, A. T., Province, M. A., Yang, Q., Becker, D. M., O'Donnell, C. J. & Becker, L. C., Jul 2010, In: Nature Genetics. 42, 7, p. 608-613 6 p.

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231 Scopus citations

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, S. I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau-Chonka, D. C., Day, F. R., Esko, T., Fall, T., Ferreira, T., Gentilini, D., Jackson, A. U., Luan, J., Randall, J. C., Vedantam, S., Willer, C. J. & Winkler, T. W. & 302 others, Wood, A. R., Workalemahu, T., Hu, Y. J., Lee, S. H., Liang, L., Lin, D. Y., Min, J. L., Neale, B. M., Thorleifsson, G., Yang, J., Albrecht, E., Amin, N., Bragg-Gresham, J. L., Cadby, G., Heijer, M. D., Eklund, N., Fischer, K., Goel, A., Hottenga, J. J., Huffman, J. E., Jarick, I., Johansson, Å., Johnson, T., Kanoni, S., Kleber, M. E., König, I. R., Kristiansson, K., Kutalik, Z., Lamina, C., Lecoeur, C., Li, G., Mangino, M., McArdle, W. L., Medina-Gomez, C., Müller-Nurasyid, M., Ngwa, J. S., Nolte, I. M., Paternoster, L., Pechlivanis, S., Perola, M., Peters, M. J., Preuss, M., Rose, L. M., Shi, J., Shungin, D., Smith, A. V., Strawbridge, R. J., Surakka, I., Teumer, A., Trip, M. D., Tyrer, J., Van Vliet-Ostaptchouk, J. V., Vandenput, L., Waite, L. L., Zhao, J. H., Absher, D., Asselbergs, F. W., Atalay, M., Attwood, A. P., Balmforth, A. J., Basart, H., Beilby, J., Bonnycastle, L. L., Brambilla, P., Bruinenberg, M., Campbell, H., Chasman, D. I., Chines, P. S., Collins, F. S., Connell, J. M., O Cookson, W., De Faire, U., De Vegt, F., Dei, M., Dimitriou, M., Edkins, S., Estrada, K., Evans, D. M., Farrall, M., Ferrario, M. M., Ferrières, J., Franke, L., Frau, F., Gejman, P. V., Grallert, H., Grönberg, H., Gudnason, V., Hall, A. S., Hall, P., Hartikainen, A. L., Hayward, C., Heard-Costa, N. L., Heath, A. C., Hebebrand, J., Homuth, G., Hu, F. B., Hunt, S. E., Hyppönen, E., Iribarren, C., Jacobs, K. B., Jansson, J. O., Jula, A., Kähönen, M., Kathiresan, S., Kee, F., Khaw, K. T., Kivimäki, M., Koenig, W., Kraja, A. T., Kumari, M., Kuulasmaa, K., Kuusisto, J., Laitinen, J. H., Lakka, T. A., Langenberg, C., Launer, L. J., Lind, L., Lindström, J., Liu, J., Liuzzi, A., Lokki, M. L., Lorentzon, M., Madden, P. A., Magnusson, P. K., Manunta, P., Marek, D., März, W., Leach, I. M., McKnight, B., Medland, S. E., Mihailov, E., Milani, L., Montgomery, G. W., Mooser, V., Mühleisen, T. W., Munroe, P. B., Musk, A. W., Narisu, N., Navis, G., Nicholson, G., Nohr, E. A., Ong, K. K., Oostra, B. A., Palmer, C. N., Palotie, A., Peden, J. F., Pedersen, N., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Prokopenko, I., Pütter, C., Radhakrishnan, A., Raitakari, O., Rendon, A., Rivadeneira, F., Rudan, I., Saaristo, T. E., Sambrook, J. G., Sanders, A. R., Sanna, S., Saramies, J., Schipf, S., Schreiber, S., Schunkert, H., Shin, S. Y., Signorini, S., Sinisalo, J., Skrobek, B., Soranzo, N., Stancáková, A., Stark, K., Stephens, J. C., Stirrups, K., Stolk, R. P., Stumvoll, M., Swift, A. J., Theodoraki, E. V., Thorand, B., Tregouet, D. A., Tremoli, E., Van Der Klauw, M. M., Van Meurs, J. B., Vermeulen, S. H., Viikari, J., Virtamo, J., Vitart, V., Waeber, G., Wang, Z., Widén, E., Wild, S. H., Willemsen, G., Winkelmann, B. R., Witteman, J. C., Wolffenbuttel, B. H., Wong, A., Wright, A. F., Zillikens, M. C., Amouyel, P., Boehm, B. O., Boerwinkle, E., Boomsma, D. I., Caulfield, M. J., Chanock, S. J., Cupples, L. A., Cusi, D., Dedoussis, G. V., Erdmann, J., Eriksson, J. G., Franks, P. W., Froguel, P., Gieger, C., Gyllensten, U., Hamsten, A., Harris, T. B., Hengstenberg, C., Hicks, A. A., Hingorani, A., Hinney, A., Hofman, A., Hovingh, K. G., Hveem, K., Illig, T., Jarvelin, M. R., Jöckel, K. H., Keinanen-Kiukaanniemi, S. M., Kiemeney, L. A., Kuh, D., Laakso, M., Lehtimäki, T., Levinson, D. F., Martin, N. G., Metspalu, A., Morris, A. D., Nieminen, M. S., Njølstad, I., Ohlsson, C., Oldehinkel, A. J., Ouwehand, W. H., Palmer, L. J., Penninx, B., Power, C., Province, M. A., Psaty, B. M., Qi, L., Rauramaa, R., Ridker, P. M., Ripatti, S., Salomaa, V., Samani, N. J., Snieder, H., Sørensen, T. I., Spector, T. D., Stefansson, K., Tönjes, A., Tuomilehto, J., Uitterlinden, A. G., Uusitupa, M., Van Der Harst, P., Vollenweider, P., Wallaschofski, H., Wareham, N. J., Watkins, H., Wichmann, H. E., Wilson, J. F., Abecasis, G. R., Assimes, T. L., Barroso, I., Boehnke, M., Borecki, I. B., Deloukas, P., Fox, C. S., Frayling, T., Groop, L. C., Haritunian, T., Heid, I. M., Hunter, D., Kaplan, R. C., Karpe, F., Moffatt, M. F., Mohlke, K. L., O'Connell, J. R., Pawitan, Y., Schadt, E. E., Schlessinger, D., Steinthorsdottir, V., Strachan, D. P., Thorsteinsdottir, U., Van Duijn, C. M., Visscher, P. M., Di Blasio, A. M., Hirschhorn, J. N., Lindgren, C. M., Morris, A. P., Meyre, D., Scherag, A., McCarthy, M. I., Speliotes, E. K., North, K. E., Loos, R. J. & Ingelsson, E., May 2013, In: Nature Genetics. 45, 5, p. 501-512 12 p.

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

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496 Scopus citations

Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium

Merino, J., Dashti, H. S., Li, S. X., Sarnowski, C., Justice, A. E., Graff, M., Papoutsakis, C., Smith, C. E., Dedoussis, G. V., Lemaitre, R. N., Wojczynski, M. K., Männistö, S., Ngwa, J. S., Kho, M., Ahluwalia, T. S., Pervjakova, N., Houston, D. K., Bouchard, C., Huang, T. & Orho-Melander, M. & 86 others, Frazier-Wood, A. C., Mook-Kanamori, D. O., Pérusse, L., Pennell, C. E., de Vries, P. S., Voortman, T., Li, O., Kanoni, S., Rose, L. M., Lehtimäki, T., Zhao, J. H., Feitosa, M. F., Luan, J., McKeown, N. M., Smith, J. A., Hansen, T., Eklund, N., Nalls, M. A., Rankinen, T., Huang, J., Hernandez, D. G., Schulz, C. A., Manichaikul, A., Li-Gao, R., Vohl, M. C., Wang, C. A., van Rooij, F. J. A., Shin, J., Kalafati, I. P., Day, F., Ridker, P. M., Kähönen, M., Siscovick, D. S., Langenberg, C., Zhao, W., Astrup, A., Knekt, P., Garcia, M., Rao, D. C., Qi, Q., Ferrucci, L., Ericson, U., Blangero, J., Hofman, A., Pausova, Z., Mikkilä, V., Wareham, N. J., Kardia, S. L. R., Pedersen, O., Jula, A., Curran, J. E., Zillikens, M. C., Viikari, J. S., Forouhi, N. G., Ordovás, J. M., Lieske, J. C., Rissanen, H., Uitterlinden, A. G., Raitakari, O. T., Kiefte-de Jong, J. C., Dupuis, J., Rotter, J. I., North, K. E., Scott, R. A., Province, M. A., Perola, M., Cupples, L. A., Turner, S. T., Sørensen, T. I. A., Salomaa, V., Liu, Y., Sung, Y. J., Qi, L., Bandinelli, S., Rich, S. S., de Mutsert, R., Tremblay, A., Oddy, W. H., Franco, O. H., Paus, T., Florez, J. C., Deloukas, P., Lyytikäinen, L. P., Chasman, D. I., Chu, A. Y. & Tanaka, T., Dec 1 2019, In: Molecular Psychiatry. 24, 12, p. 1920-1932 13 p.

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

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45 Scopus citations

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

Jones, G., Trajanoska, K., Santanasto, A. J., Stringa, N., Kuo, C. L., Atkins, J. L., Lewis, J. R., Duong, T. V., Hong, S., Biggs, M. L., Luan, J., Sarnowski, C., Lunetta, K. L., Tanaka, T., Wojczynski, M. K., Cvejkus, R., Nethander, M., Ghasemi, S., Yang, J. & Zillikens, M. C. & 46 others, Walter, S., Sicinski, K., Kague, E., Ackert-Bicknell, C. L., Arking, D. E., Windham, B. G., Boerwinkle, E., Grove, M. L., Graff, M., Spira, D., Demuth, I., van der Velde, N., de Groot, L. C. P. G. M., Psaty, B. M., Odden, M. C., Fohner, A. E., Langenberg, C., Wareham, N. J., Bandinelli, S., van Schoor, N. M., Huisman, M., Tan, Q., Zmuda, J., Mellström, D., Karlsson, M., Bennett, D. A., Buchman, A. S., De Jager, P. L., Uitterlinden, A. G., Völker, U., Kocher, T., Teumer, A., Rodriguéz-Mañas, L., García, F. J., Carnicero, J. A., Herd, P., Bertram, L., Ohlsson, C., Murabito, J. M., Melzer, D., Kuchel, G. A., Ferrucci, L., Karasik, D., Rivadeneira, F., Kiel, D. P. & Pilling, L. C., Dec 1 2021, In: Nature communications. 12, 1, 654.

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125 Scopus citations

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

Tanaka, T., Ngwa, J. S., Van Rooij, F. J. A., Zillikens, M. C., Wojczynski, M. K., Frazier-Wood, A. C., Houston, D. K., Kanoni, S., Lemaitre, R. N., Luan, J. N. A., Mikkilä, V., Renstrom, F., Sonestedt, E., Zhao, J. H., Chu, A. Y., Qi, L., Chasman, D. I., De Oliveira Otto, M. C., Dhurandhar, E. J. & Feitosa, M. F. & 46 others, Johansson, I., Khaw, K. T., Lohman, K. K., Manichaikul, A., McKeown, N. M., Mozaffarian, D., Singleton, A., Stirrups, K., Viikari, J., Ye, Z., Bandinelli, S., Barroso, I., Deloukas, P., Forouhi, N. G., Hofman, A., Liu, Y., Lyytikäinen, L. P., North, K. E., Dimitriou, M., Hallmans, G., Kähönen, M., Langenberg, C., Ordovas, J. M., Uitterlinden, A. G., Hu, F. B., Kalafati, I. P., Raitakari, O., Franco, O. H., Johnson, A., Emilsson, V., Schrack, J. A., Semba, R. D., Siscovick, D. S., Arnett, D. K., Borecki, I. B., Franks, P. W., Kritchevsky, S. B., Loos, T. L. R. J. F., Orho-Melander, M., Rotter, J. I., Wareham, N. J., Witteman, J. C. M., Ferrucci, L., Dedoussis, G., Cupples, L. A. & Nettleton, J. A., Jun 1 2013, In: American Journal of Clinical Nutrition. 97, 6, p. 1395-1402 8 p.

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

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191 Scopus citations

Genome-wide meta-analysis points to CTC1 and ZNf676 as genes regulating telomere homeostasis in humans

Mangino, M., Hwang, S. J., Spector, T. D., Hunt, S. C., Kimura, M., Fitzpatrick, A. L., Christiansen, L., Petersen, I., Elbers, C. C., Harris, T., Chen, W., Srinivasan, S. R., Kark, J. D., Benetos, A., El shamieh, S., Visvikis-Siest, S., Christensen, K., Berenson, G. S., Valdes, A. M. & Vinuela, A. & 19 others, Garcia, M., Arnett, D. K., Broeckel, U., Province, M. A., Pankow, J. S., Kammerer, C., Liu, Y., Nalls, M., Tishkoff, S., Thomas, F., Ziv, E., Psaty, B. M., Bis, J. C., Rotter, J. I., Taylor, K. D., Smith, E., Schork, N. J., Levy, D. & Aviv, A., Dec 2012, In: Human molecular genetics. 21, 24, p. 5385-5394 10 p., dds382.

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191 Scopus citations

Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence

Hancock, D. B., Reginsson, G. W., Gaddis, N. C., Chen, X., Saccone, N. L., Lutz, S. M., Qaiser, B., Sherva, R., Steinberg, S., Zink, F., Stacey, S. N., Glasheen, C., Chen, J., Gu, F., Frederiksen, B. N., Loukola, A., Gudbjartsson, D. F., Brüske, I., Landi, M. T. & Bickeböller, H. & 14 others, Madden, P., Farrer, L., Kaprio, J., Kranzler, H. R., Gelernter, J., Baker, T. B., Kraft, P., Amos, C. I., Caporaso, N. E., Hokanson, J. E., Bierut, L. J., Thorgeirsson, T. E., Johnson, E. O. & Stefansson, K., Oct 6 2015, In: Translational psychiatry. 5, e651.

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

Open Access

74 Scopus citations

Genome-wide scans for heritability of fasting serum insulin and glucose concentrations in hypertensive families

Freedman, B. I., Rich, S. S., Sale, M. M., Heiss, G., Djoussé, L., Pankow, J. S., Province, M. A., Rao, D. C., Lewis, C. E., Chen, Y. D. I. & Beck, S. R., Apr 2005, In: Diabetologia. 48, 4, p. 661-668 8 p.

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Open Access

20 Scopus citations

Genome wide screens in yeast to identify potential binding sites and target genes of DNA-binding proteins

Zeng, J., Yan, J., Wang, T., Mosbrook-Davis, D., Dolan, K. T., Christensen, R., Stormo, G. D., Haussler, D., Lathrop, R. H., Brachmann, R. K. & Burgess, S. M., Jan 2008, In: Nucleic acids research. 36, 1, e8.

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Open Access

20 Scopus citations

Genome-wide search for genes related to the fat-free body mass in the quebec family study

Chagnon, Y. C., Borecki, I. B., Pérusse, L., Roy, S., Lacaille, M., Chagnon, M., Ho-Kim, M. A., Rice, T., Province, M. A., Rao, D. C. & Bouchard, C., 2000, In: Metabolism: clinical and experimental. 49, 2, p. 203-207 5 p.

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

104 Scopus citations

Genomic basis for RNA alterations in cancer

PCAWG Transcriptome Core Group, PCAWG Transcriptome Working Group, PCAWG Consortium, Calabrese, C., Davidson, N. R., Demircioğlu, D., Fonseca, N. A., He, Y., Kahles, A., Lehmann, K. V., Liu, F., Shiraishi, Y., Soulette, C. M., Urban, L., Greger, L., Li, S., Liu, D., Perry, M. D., Xiang, Q. & Zhang, F. & 183 others, Zhang, J., Bailey, P., Erkek, S., Hoadley, K. A., Hou, Y., Huska, M. R., Kilpinen, H., Korbel, J. O., Marin, M. G., Markowski, J., Nandi, T., Pan-Hammarström, Q., Pedamallu, C. S., Siebert, R., Stark, S. G., Su, H., Tan, P., Waszak, S. M., Yung, C., Zhu, S., Awadalla, P., Creighton, C. J., Meyerson, M., Ouellette, B. F. F., Wu, K., Yang, H., Brazma, A., Brooks, A. N., Göke, J., Rätsch, G., Schwarz, R. F., Stegle, O., Zhang, Z., Amin, S. B., Chateigner, A., Cortés-Ciriano, I., Craft, B., Frenkel-Morgenstern, M., Goldman, M., Khurana, E., Lamaze, F. C., Li, C., Li, X., Li, X., Liu, X., Nielsen, M. M., Ojesina, A. I., Park, P. J., Pedersen, J. S., Teh, B. T., Wang, J., Xiong, H., Yakneen, S., Ye, C., Zhang, X., Zheng, L., Zhu, J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 6 2020, In: Nature. 578, 7793, p. 129-136 8 p.

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280 Scopus citations

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome

Makki, N., Zhao, J., Liu, Z., Eckalbar, W. L., Ushiki, A., Khanshour, A. M., Wu, J., Rios, J., Gray, R. S., Wise, C. A. & Ahituv, N., Nov 15 2020, In: Human molecular genetics. 29, 22, p. 3606-3615 10 p.

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10 Scopus citations

Genomic environments scale the activities of diverse core promoters

Hong, C. K. Y. & Cohen, B. A., Jan 1 2022, In: Genome research. 32, 1, p. 85-96 12 p.

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22 Scopus citations

Genomic footprints of activated telomere maintenance mechanisms in cancer

PCAWG-Structural Variation Working Group, PCAWG Consortium, Sieverling, L., Hong, C., Koser, S. D., Ginsbach, P., Kleinheinz, K., Hutter, B., Braun, D. M., Cortés-Ciriano, I., Xi, R., Kabbe, R., Park, P. J., Eils, R., Schlesner, M., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R. & Boutros, P. C. & 182 others, Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J. K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Zhang, C. Z., Brors, B., Rippe, K., Jones, D. T. W., Feuerbach, L., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Dec 1 2020, In: Nature communications. 11, 1, 733.

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

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78 Scopus citations

Genomic Patterns of De Novo Mutation in Simplex Autism

Turner, T. N., Coe, B. P., Dickel, D. E., Hoekzema, K., Nelson, B. J., Zody, M. C., Kronenberg, Z. N., Hormozdiari, F., Raja, A., Pennacchio, L. A., Darnell, R. B. & Eichler, E. E., Oct 19 2017, In: Cell. 171, 3, p. 710-722.e12

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244 Scopus citations

Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE family study

Bouchard, C., Rankinen, T., Chagnon, Y. C., Rice, T., Pérusse, L., Gagnon, J., Borecki, I., An, P., Leon, A. S., Skinner, J. S., Wilmore, J. H., Province, M. & Rao, D. C., Feb 2000, In: Journal of Applied Physiology. 88, 2, p. 551-559 9 p.

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

169 Scopus citations

Genomics of human congenital hydrocephalus

Kundishora, A. J., Singh, A. K., Allington, G., Duy, P. Q., Ryou, J., Alper, S. L., Jin, S. C. & Kahle, K. T., Nov 2021, In: Child's Nervous System. 37, 11, p. 3325-3340 16 p.

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

18 Scopus citations

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Undiagnosed Diseases Network, Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., Ashley, E. A., Tabor, H. K., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Bacino, C. A., Bademci, G., Balasubramanyam, A. & Baldridge, D. & 181 others, 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., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., 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., 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., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., 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., 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. J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., 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., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenwasser, N., Rossignol, F., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Oct 2023, In: Journal of Pediatrics. 261, 113537.

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

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2 Scopus citations

Genotype-by-sex interaction on fasting insulin concentration: The HyperGEN study

North, K. E., Franceschini, N., Borecki, I. B., Gu, C. C., Heiss, G., Province, M. A., Arnett, D. K., Lewis, C. E., Miller, M. B., Myers, R. H., Hunt, S. C. & Freedman, B. I., Jan 2007, In: Diabetes. 56, 1, p. 137-142 6 p.

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

Open Access

13 Scopus citations

Geographic variation in the eukaryotic virome of human diarrhea

Holtz, L. R., Cao, S., Zhao, G., Bauer, I. K., Denno, D. M., Klein, E. J., Antonio, M., Stine, O. C., Snelling, T. L., Kirkwood, C. D. & Wang, D., Nov 1 2014, In: Virology. 468, p. 556-564 9 p.

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

Open Access

65 Scopus citations

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing

Mehinovic, E., Gray, T., Campbell, M., Ekholm, J., Wenger, A., Rowell, W., Grudo, A., Grimwood, J., Korlach, J., Gurnett, C., Constantino, J. N. & Turner, T. N., Jul 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2071-2081 11 p.

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

Open Access

8 Scopus citations

Germline stem cell differentiation entails regional control of cell fate regulator GLD-1 in Caenorhabditis elegans

Brenner, J. L. & Schedl, T., Mar 2016, In: Genetics. 202, 3, p. 1085-1103 19 p.

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

37 Scopus citations

Germ-line tumor formation caused by activation of glp-1, a Caenorhabditis elegans member of the Notch family of receptors

Berry, L. W., Westlund, B. & Schedl, T., Feb 1997, In: Development. 124, 4, p. 925-936 12 p.

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

224 Scopus citations

GermOnline, a cross-species community knowledgebase on germ cell differentiation

Wiederkehr, C., Basavaraj, R., Sarrauste de Menthière, C., Hermida, L., Koch, R., Schlecht, U., Amon, A., Brachat, S., Breitenbach, M., Briza, P., Caburet, S., Cherry, M., Davis, R., Deutschbauer, A., Dickinson, H. G., Dumitrescu, T., Fellous, M., Goldman, A., Grootegoed, J. A. & Hawley, R. & 24 others, Ishii, R., Jégou, B., Kaufman, R. J., Klein, F., Lamb, N., Maro, B., Nasmyth, K., Nicolas, A., Orr-Weaver, T., Philippsen, P., Pineau, C., Rabitsch, K. P., Reinke, V., Roest, H., Saunders, W., Schröder, M., Schedl, T., Siep, M., Villeneuve, A., Wolgemuth, D. J., Yamamoto, M., Zickler, D., Esposito, R. E. & Primig, M., Jan 1 2004, In: Nucleic acids research. 32, DATABASE ISS., p. D560-D567

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

24 Scopus citations

GFRα1-deficient mice have deficits in the enteric nervous system and kidneys

Enomoto, H., Araki, T., Jackman, A., Heuckeroth, R. O., Snider, W. D., Johnson, E. M. & Milbrandt, J., Aug 1998, In: Neuron. 21, 2, p. 317-324 8 p.

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

Open Access

415 Scopus citations

GFRα1 expression in cells lacking ret is dispensable for organogenesis and nerve regeneration

Enomoto, H., Hughes, I., Golden, J., Baloh, R. H., Yonemura, S., Heuckeroth, R. O., Johnson, E. M. & Milbrandt, J., Nov 18 2004, In: Neuron. 44, 4, p. 623-636 14 p.

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

Open Access

63 Scopus citations

GFRα3 is an orphan member of the GDNF/neurturin/persephin receptor family

Baloh, R. H., Gorodinsky, A., Golden, J. P., Tansey, M. G., Keck, C. L., Popescu, N. C., Johnson, E. M. & Milbrandt, J., May 12 1998, In: Proceedings of the National Academy of Sciences of the United States of America. 95, 10, p. 5801-5806 6 p.

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

Open Access

118 Scopus citations

GFRα-mediated localization of RET to lipid rafts is required for effective downstream signaling, differentiation, and neuronal survival

Tansey, M. G., Baloh, R. H., Milbrandt, J. & Johnson, E. M., 2000, In: Neuron. 25, 3, p. 611-623 13 p.

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Open Access

264 Scopus citations

GLD-1, a cytoplasmic protein essential for oocyte differentiation, shows stage- ans sex-specific expression during Caenorhabditis elegans germline development

Jones, A. R., Francis, R. & Schedl, T., Nov 25 1996, In: Developmental Biology. 180, 1, p. 165-183 19 p.

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Open Access

229 Scopus citations

gld-1, a tumor suppressor gene required for oocyte development in Caenorhabditis elegans

Francis, R., Barton, M. K., Kimble, J. & Schedl, T., 1995, In: Genetics. 139, 2, p. 579-606 28 p.

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

300 Scopus citations

Glial cell line-derived neurotrophic factor-dependent recruitment of Ret into lipid rafts enhances signaling by partitioning Ret from proteasome-dependent degradation

Pierchala, B. A., Milbrandt, J. & Johnson, E. M., Mar 8 2006, In: Journal of Neuroscience. 26, 10, p. 2777-2787 11 p.

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

Open Access

82 Scopus citations

Glial cell-line derived neurotrophic factor-mediated RET signaling regulates spermatogonial stem cell fate

Naughton, C. K., Jain, S., Strickland, A. M., Gupta, A. & Milbrandt, J., Feb 2006, In: Biology of reproduction. 74, 2, p. 314-321 8 p.

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

Open Access

318 Scopus citations

Glial Cell Line-Derived Neurotrophic Factor Promotes the Survival of Early Postnatal Spinal Motor Neurons in the Lateral and Medial Motor Columns in Slice Culture

Rakowicz, W. P., Staples, C. S., Milbrandt, J., Brunstrom, J. E. & Johnson, E. M., May 15 2002, In: Journal of Neuroscience. 22, 10, p. 3953-3962 10 p.

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

Open Access

59 Scopus citations

Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier

Eshed, Y., Feinberg, K., Poliak, S., Sabanay, H., Sarig-Nadir, O., Spiegel, I., Bermingham, J. R. & Peles, E., Jul 21 2005, In: Neuron. 47, 2, p. 215-229 15 p.

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Open Access

265 Scopus citations

Global, cell non-autonomous gene regulation drives individual lifespan among isogenic c. Elegans

Kinser, H. E., Mosley, M. C., Plutzer, I. B. & Pincus, Z., Feb 2021, In: eLife. 10, p. 1-27 27 p., e65026.

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

Open Access

10 Scopus citations

Global analysis of Drosophila Cys₂-His₂ zinc finger proteins reveals a multitude of novel recognition motifs and binding determinants

Enuameh, M. S., Asriyan, Y., Richards, A., Christensen, R. G., Hall, V. L., Kazemian, M., Zhu, C., Pham, H., Cheng, Q., Blatti, C., Brasefield, J. A., Basciotta, M. D., Ou, J., McNulty, J. C., Zhu, L. J., Celniker, S. E., Sinha, S., Stormo, G. D., Brodsky, M. H. & Wolfe, S. A., Jun 2013, In: Genome research. 23, 6, p. 928-940 13 p.

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

Open Access

63 Scopus citations

Global gene deletion analysis exploring yeast filamentous growth

Ryan, O., Shapiro, R. S., Kurat, C. F., Mayhew, D., Baryshnikova, A., Chin, B., Lin, Z. Y., Cox, M. J., Vizeacoumar, F., Cheung, D., Bahr, S., Tsui, K., Tebbji, F., Sellam, A., Istel, F., Schwarzmüller, T., Reynolds, T. B., Kuchler, K., Gifford, D. K. & Whiteway, M. & 9 others, Giaever, G., Nislow, C., Costanzo, M., Gingras, A. C., Mitra, R. D., Andrews, B., Fink, G. R., Cowen, L. E. & Boone, C., Sep 14 2012, In: Science. 337, 6100, p. 1352-1356 5 p.

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

170 Scopus citations

Global transmission/disequilibrium tests based on haplotype sharing in multiple candidate genes

Yu, K., Gu, C. C., Xiong, C., An, P. & Province, M. A., Dec 2005, In: Genetic Epidemiology. 29, 4, p. 323-335 13 p.

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

7 Scopus citations

GLP-1 Notch-LAG-1 CSL control of the germline stem cell fate is mediated by transcriptional targets lst-1 and sygl-1

Chen, J., Mohammad, A., Pazdernik, N., Huang, H., Bowman, B., Tycksen, E. & Schedl, T., Mar 1 2020, In: PLoS genetics. 16, 3, e1008650.

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

Open Access

26 Scopus citations

Glucokinase gene is genetic marker for NIDDM in American blacks

Chiu, K. C., Province, M. A. & Permutt, M. A., Jul 1992, In: Diabetes. 41, 7, p. 843-849 7 p.

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

80 Scopus citations

Glutamate receptor activation evokes calpain-mediated degradation of Sp3 and Sp4, the prominent Sp-family transcription factors in neurons

Mao, X., Yang, S. H., Simpkins, J. W. & Barger, S. W., Mar 2007, In: Journal of Neurochemistry. 100, 5, p. 1300-1314 15 p.

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

Open Access

44 Scopus citations

Graph-theoretic approach to RNA modeling using comparative data.

Cary, R. B. & Stormo, G. D., 1995, In: Proceedings / ... International Conference on Intelligent Systems for Molecular Biology ; ISMB. International Conference on Intelligent Systems for Molecular Biology. 3, p. 75-80 6 p.

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

43 Scopus citations

Group and individual variability in mouse pup isolation calls recorded on the same day show stability

Barnes, T. D., Rieger, M. A., Dougherty, J. D. & Holy, T. E., Dec 15 2017, In: Frontiers in Behavioral Neuroscience. 11, 243.

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

Open Access

15 Scopus citations

Groups of p53 target genes involved in specific p53 downstream effects cluster into different classes of DNA binding sites

Qian, H., Wang, T., Naumovski, L., Lopez, C. D. & Brachmann, R. K., Nov 7 2002, In: Oncogene. 21, 51, p. 7901-7911 11 p.

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

116 Scopus citations

Growth and differentiation proceeds normally in cells deficient in the immediate early gene NGFI-A

Lee, S. L., Tourtellotte, L. C., Wesselschmidt, R. L. & Milbrandt, J., 1995, In: Journal of Biological Chemistry. 270, 17, p. 9971-9977 7 p.

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

Open Access

157 Scopus citations

Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models

Kopp, N., McCullough, K., Maloney, S. E. & Dougherty, J. D., Oct 15 2019, In: Human molecular genetics. 28, 20, p. 3443-3465 23 p.

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

Open Access

15 Scopus citations

Guide Positioning Sequencing identifies aberrant DNA methylation patterns that alter cell identity and tumor-immune surveillance networks

Li, J., Li, Y., Li, W., Luo, H., Xi, Y., Dong, S., Gao, M., Xu, P., Zhang, B., Liang, Y., Zou, Q., Hu, X., Peng, L., Zou, D., Wang, T., Yang, H., Jiang, C., Peng, S., Wu, F. & Yu, W., Feb 2019, In: Genome research. 29, 2, p. 270-280 11 p.

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

Open Access

25 Scopus citations

Gut DNA viromes of Malawian twins discordant for severe acute malnutrition

Reyes, A., Blanton, L. V., Cao, S., Zhao, G., Manary, M., Trehan, I., Smith, M. I., Wang, D., Virgin, S., Rohwer, F. & Gordon, J. I., Sep 22 2015, In: Proceedings of the National Academy of Sciences of the United States of America. 112, 38, p. 11941-11946 6 p.

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

Open Access

226 Scopus citations

GWAS of cerebrospinal fluid tau levels identifies risk variants for alzheimer's disease

Cruchaga, C., Kauwe, J. S. K., Harari, O., Jin, S. C., Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., Bertelsen, S., Bailey, M., McKean, D., Shulman, J. M., De Jager, P. L., Chibnik, L., Bennett, D. A., Arnold, S. E., Harold, D. & Sims, R. & 17 others, Gerrish, A., Williams, J., Van Deerlin, V. M., Lee, V. M. Y., Shaw, L. M., Trojanowski, J. Q., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Peskind, E. R., Galasko, D., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Apr 24 2013, In: Neuron. 78, 2, p. 256-268 13 p.

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

Open Access

306 Scopus citations

Department of Genetics

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