Effects of germination on antinutritional, colour, functional and physicochemical properties of millets von RP, Mane, RB, Kshirsagar, BS, Agarkar, BM, Patil, SD, Katke

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Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing von Kunstman, John W, Juhlin, C Christofer, Goh, Gerald, Brown, Taylor C, Stenman, Adam, Healy, James M, Rubinstein, Jill C, Choi, Murim, Kiss, Nimrod, Nelson-Williams, Carol, Mane, Shrikant, Rimm, David L, Prasad, Manju L, Höög, Anders, Zedenius, Jan, Larsson, Catharina, Korah, Reju, Lifton, Richard P, Carling, Tobias

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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children von Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Elmas Bozdemir, Sefika, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M, Jaffré, Fabrice, Hoffmann, H-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés A, Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, DeDiego, Marta L, Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan R, Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M, Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, Perez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen C, Lifton, Richard P, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles M, Silverman, Robert H

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Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma von Juhlin, C. Christofer, Goh, Gerald, Healy, James M, Fonseca, Annabelle L, Scholl, Ute I, Stenman, Adam, Kunstman, John W, Brown, Taylor C, Overton, John D, Mane, Shrikant M, Nelson-Williams, Carol, Bäckdahl, Martin, Suttorp, Anna-Carinna, Haase, Matthias, Choi, Murim, Schlessinger, Joseph, Rimm, David L, Höög, Anders, Prasad, Manju L, Korah, Reju, Larsson, Catharina, Lifton, Richard P, Carling, Tobias

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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 von Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Renkilaraj, MRLM, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Bilguvar, K, Zhang, Y, Neehus, AL, Ogishi, M, Pelham, SJ, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacin, P, Colobran, R, Riviere, JG, Tandjaoui-Lambiotte, Y, Chaibi, K, Shahrooei, M, Darazam, IA, Olyaei, NA, Mansouri, D, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Rojas, J, Reyes, LF, Bustos, IG, Arias, AA, Morelle, G, Kyheng, C, Troya, J, Planas-Serra, L, Schluter, A, Gut, M, Pujol, A, Allende, LM, Rodriguez-Gallego, C, Cabrera-Marante, O, Pleguezuelo, DE, de Diego, RP, Keles, S, Aytekin, G, Akcan, OM, Bryceson, YT, Bergman, P, Brodin, P, Smole, D, Smith, CIE, Norlin, AC, Campbell, TM, Covill, LE, Hammarstrom, L, Pan-Hammarstrom, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, AN, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Kahn-Kirby, A, Snow, AL, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, SY, Beziat, V, Lifton, RP, Bastard, P, Notarangelo, LD, Abel, L, Su, HC, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, JL

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Genome-wide association study identifies susceptibility loci for IgA nephropathy von Gharavi, Ali G, Kiryluk, Krzysztof, Choi, Murim, Li, Yifu, Hou, Ping, Xie, Jingyuan, Sanna-Cherchi, Simone, Men, Clara J, Julian, Bruce A, Wyatt, Robert J, Novak, Jan, He, John C, Wang, Haiyan, Lv, Jicheng, Zhu, Li, Wang, Weiming, Wang, Zhaohui, Yasuno, Kasuhito, Gunel, Murat, Mane, Shrikant, Umlauf, Sheila, Tikhonova, Irina, Beerman, Isabel, Savoldi, Silvana, Magistroni, Riccardo, Ghiggeri, Gian Marco, Bodria, Monica, Lugani, Francesca, Ravani, Pietro, Ponticelli, Claudio, Allegri, Landino, Boscutti, Giuliano, Frasca, Giovanni, Amore, Alessandro, Peruzzi, Licia, Coppo, Rosanna, Izzi, Claudia, Viola, Battista Fabio, Prati, Elisabetta, Salvadori, Maurizio, Mignani, Renzo, Gesualdo, Loreto, Bertinetto, Francesca, Mesiano, Paola, Amoroso, Antonio, Scolari, Francesco, Chen, Nan, Zhang, Hong, Lifton, Richard P

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy von Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.

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Ionic Liquid Promoted Synthesis of β-Enamino Ketones at Room Temperature von Bhosale, Rajesh S., Suryawanshi, Padmakar A., Ingle, Sachin A., Lokhande, Mahendra N., More, Sandeep P., Mane, Sandeep B., Bhosale, Sidthanath V., Pawar, Rajendra P.

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De novo mutations in congenital heart disease with neurodevelopmental and other birth defects von Homsy, J, Zaidi, S, Shen, Y, Ware, JS, Samocha, KE, Wakimoto, H, Gorham, J, Chih Jin, S, Deanfield, J, Giardini, A, Porter Jr., GA, Kim, R, Bilguvar, K, Lopez, F, Tikhonova, I, Mane, S, Romano Adesman, A, Qi, H, Vardarajan, B, Ma, L, Daly, M, Roberts, AE, Russell, MW, Mital, S, Newburger, JW, Gaynor, JW, Breitbart, RE, Iossifov, I, Ronemus, M, Sanders, SJ, Kaltman, JR, Seidman, JG, Brueckner, M, Gelb, BD, Goldmuntz, E, Lifton, RP, Seidman, CE, Chung, WK

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Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia von Dong, W, Jin, SC, Allocco, A, Zeng, X, Sheth, AH, Panchagnula, S, Castonguay, A, Lorenzo, LÉ, Islam, B, Brindle, G, Bachand, K, Hu, J, Sularz, A, Gaillard, J, Choi, J, Dunbar, A, Nelson-Williams, C, Kiziltug, E, Furey, CG, Conine, S, Duy, PQ, Kundishora, AJ, Loring, E, Li, B, Lu, Q, Zhou, G, Liu, W, Li, X, Sierant, MC, Mane, S, Castaldi, C, López-Giráldez, F, Knight, JR, Sekula, RF, Simard, JM, Eskandar, EN, Gottschalk, C, Moliterno, J, Günel, M, Gerrard, JL, Dib-Hajj, S, Waxman, SG, Barker, FG, Alper, SL, Chahine, M, Haider, S, De Koninck, Y, Lifton, RP, Kahle, KT

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SYNTHESIS OF NEW COUMARINYL 1,4-BENZOTHIAZINES von Bondgea, S.P., Ligdea, N.M., Bhingolikara, V.E., Sonawaneb, R.P., Mane, R.A.

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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus von Jin, SC, Dong, W, Kundishora, AJ, Panchagnula, S, Moreno-De-Luca, A, Furey, CG, Allocco, AA, Walker, RL, Nelson-Williams, C, Smith, H, Dunbar, A, Conine, S, Lu, Q, Zeng, X, Sierant, MC, Knight, JR, Sullivan, W, Duy, PQ, DeSpenza, T, Reeves, BC, Karimy, JK, Marlier, A, Castaldi, C, Tikhonova, IR, Li, B, Peña, HP, Broach, JR, Kabachelor, EM, Ssenyonga, P, Hehnly, C, Ge, L, Keren, B, Timberlake, AT, Goto, J, Mangano, FT, Johnston, JM, Butler, WE, Warf, BC, Smith, ER, Schiff, SJ, Limbrick, DD, Heuer, G, Jackson, EM, Iskandar, BJ, Mane, S, Haider, S, Guclu, B, Bayri, Y, Sahin, Y, Duncan, CC, Apuzzo, MLJ, DiLuna, ML, Hoffman, EJ, Sestan, N, Ment, LR, Alper, SL, Bilguvar, K, Geschwind, DH, Günel, M, Lifton, RP, Kahle, KT

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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy von Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, J, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, C, Zhang, J, Li, B, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, Y, Zhu, D, Zhang, B, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, López-Giráldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, M, Retterer, K, Millan, F, Wang, Y, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, Lin, AE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, X, Amor, DJ, Zarnescu, DC, Lu, Q, Xing, Q, Zhu, C, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC

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Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation von Duran, D, Zeng, X, Jin, SC, Choi, J, Nelson-Williams, C, Yatsula, B, Gaillard, J, Furey, CG, Lu, Q, Timberlake, AT, Dong, W, Sorscher, MA, Loring, E, Klein, J, Allocco, A, Hunt, A, Conine, S, Karimy, JK, Youngblood, MW, Zhang, J, DiLuna, ML, Matouk, CC, Mane, S, Tikhonova, IR, Castaldi, C, López-Giráldez, F, Knight, J, Haider, S, Soban, M, Alper, SL, Komiyama, M, Ducruet, AF, Zabramski, JM, Dardik, A, Walcott, BP, Stapleton, CJ, Aagaard-Kienitz, B, Rodesch, G, Jackson, E, Smith, ER, Orbach, DB, Berenstein, A, Bilguvar, K, Vikkula, M, Gunel, M, Lifton, RP, Kahle, KT

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome von Braun, DA, Lovric, S, Schapiro, D, Schneider, R, Marquez, J, Asif, M, Hussain, MS, Daga, A, Widmeier, E, Rao, J, Ashraf, S, Tan, W, Lusk, CP, Kolb, A, Jobst-Schwan, T, Schmidt, JM, Hoogstraten, CA, Eddy, K, Kitzler, TM, Shril, S, Moawia, A, Schrage, K, Khayyat, AIA, Lawson, JA, Gee, HY, Warejko, JK, Hermle, T, Majmundar, AJ, Hugo, H, Budde, B, Motameny, S, Altmüller, J, Noegel, AA, Fathy, HM, Gale, DP, Waseem, SS, Khan, A, Kerecuk, L, Hashmi, S, Mohebbi, N, Ettenger, R, Serdaroğlu, E, Alhasan, KA, Hashem, M, Goncalves, S, Ariceta, G, Ubetagoyena, M, Antonin, W, Baig, SM, Alkuraya, FS, Shen, Q, Xu, H, Antignac, C, Lifton, RP, Mane, S, Nürnberg, P, Khokha, MK, Hildebrandt, F

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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus von Furey, CG, Choi, J, Jin, SC, Zeng, X, Timberlake, AT, Nelson-Williams, C, Mansuri, MS, Lu, Q, Duran, D, Panchagnula, S, Allocco, A, Karimy, JK, Khanna, A, Gaillard, JR, DeSpenza, T, Antwi, P, Loring, E, Butler, WE, Smith, ER, Warf, BC, Strahle, JM, Limbrick, DD, Storm, PB, Heuer, G, Jackson, EM, Iskandar, BJ, Johnston, JM, Tikhonova, I, Castaldi, C, Lopez-Giraldez, F, Bjornson, RD, Knight, JR, Bilguvar, K, Mane, S, Alper, SL, Haider, S, Guclu, B, Bayri, Y, Sahin, Y, Apuzzo, MLJ, Duncan, CC, DiLuna, ML, Gunel, M, Lifton, RP, Kahle, KT

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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome von Warejko, JK, Tan, W, Daga, A, Schapiro, D, Lawson, JA, Shril, S, Lovric, S, Ashraf, S, Rao, J, Hermle, T, Jobst-Schwan, T, Widmeier, E, Majmundar, AJ, Schneider, R, Gee, HY, Schmidt, JM, Vivante, A, van der Ven, AT, Ityel, H, Chen, J, Sadowski, CE, Kohl, S, Pabst, WL, Nakayama, M, Somers, MJG, Rodig, NM, Daouk, G, Baum, M, Stein, DR, Ferguson, MA, Traum, AZ, Soliman, NA, Kari, JA, El Desoky, S, Fathy, H, Zenker, M, Bakkaloglu, SA, Mueller, D, Noyan, A, Ozaltin, F, Cadnapaphornchai, MA, Hashmi, S, Hopcian, J, Kopp, JB, Benador, N, Bockenhauer, D, Bogdanovic, R, Stajic, N, Chernin, G, Ettenger, R, Fehrenbach, H, Kemper, M, Munarriz, RL, Podracka, L, Buscher, R, Serdaroglu, E, Tasic, V, Mane, S, Lifton, RP, Braun, DA, Hildebrandt, F

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands von Jin, SC, Homsy, J, Zaidi, S, Lu, Q, Morton, S, DePalma, SR, Zeng, X, Qi, H, Chang, W, Sierant, MC, Hung, WC, Haider, S, Zhang, J, Knight, J, Bjornson, RD, Castaldi, C, Tikhonoa, IR, Bilguvar, K, Mane, SM, Sanders, SJ, Mital, S, Russell, MW, Gaynor, JW, Deanfield, J, Giardini, A, Porter Jr, GA, Srivastava, D, Lo, CW, Shen, Y, Watkins, WS, Yandell, M, Yost, HJ, Tristani-Firouzi, M, Newburger, JW, Roberts, AE, Kim, R, Zhao, H, Kaltman, JR, Goldmuntz, E, Chung, WK, Seidman, JG, Gelb, BD, Seidman, CE, Lifton, RP, Brueckner, M

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