by Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin
Published in Cell (16.09.2011)

by Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Published in Genome medicine (28.09.2018)

by Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Brosens, Erwin, Gurha, Priyatansh, Kołodziejska, Katarzyna E., Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K. Naga, Chen, Bo, Person, Richard E., Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, Sixto F., Hustead, Virginia A., Jessurun, Jose, Hirsch, Russel, Witte, David P., Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł
Published in Genome research (01.01.2013)

by Dharmadhikari, Avinash V., Szafranski, Przemyslaw, V. Kalinichenko, Vladimir, Stankiewicz, Pawel
Published in Current genomics (01.04.2015)

by Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin
Published in Genome medicine (17.05.2019)

by Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Published in Frontiers in genetics (19.07.2022)

by Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Published in Orphanet journal of rare diseases (13.11.2020)

by Hahn, Elan, Dharmadhikari, Avinash V., Markowitz, Alexander L., Estrine, Dolores, Quindipan, Catherine, Maggo, Simran D. S., Sharma, Ankit, Lee, Brian, Maglinte, Dennis T., Shams, Soheil, Deardorff, Matthew A., Biegel, Jaclyn A., Gai, Xiaowu, Sun, Miao, Schmidt, Ryan J., Raca, Gordana, Ji, Jianling
Published in Npj genomic medicine (21.02.2025)

by Sen, Partha, Dharmadhikari, Avinash V., Majewski, Tadeusz, Mohammad, Mahmoud A., Kalin, Tanya V., Zabielska, Joanna, Ren, Xiaomeng, Bray, Molly, Brown, Hannah M., Welty, Stephen, Thevananther, Sundararajah, Langston, Claire, Szafranski, Przemyslaw, Justice, Monica J., Kalinichenko, Vladimir V., Gambin, Anna, Belmont, John, Stankiewicz, Pawel
Published in PloS one (01.04.2014)

by Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V, Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J, Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S, Robak, Laurie, Bostwick, Bret L, Schaaf, Christian P, Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A, Hanchard, Neil A, Wangler, Michael F, Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W, Burrage, Lindsay C, Graham, Brett H, Sutton, Vernon Reid, Craigen, William J, Plon, Sharon E, Lupski, James R, Beaudet, Arthur L, Gibbs, Richard A, Muzny, Donna M, Miller, Marcus J, Wang, Xia, Leduc, Magalie S, Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine M, Yang, Yaping, Lalani, Seema R
Published in JAMA pediatrics (04.12.2017)

by Dharmadhikari, Avinash V., Sun, Jenny J., Gogolewski, Krzysztof, Carofino, Brandi L., Ustiyan, Vladimir, Hill, Misty, Majewski, Tadeusz, Szafranski, Przemyslaw, Justice, Monica J., Ray, Russell S., Dickinson, Mary E., Kalinichenko, Vladimir V., Gambin, Anna, Stankiewicz, Paweł
Published in Biology open (15.11.2016)

by Stanley, Kate E, Giordano, Jessica, Thorsten, Vanessa, Buchovecky, Christie, Thomas, Amanda, Ganapathi, Mythily, Liao, Jun, Dharmadhikari, Avinash V, Revah-Politi, Anya, Ernst, Michelle, Lippa, Natalie, Holmes, Halie, Povysil, Gundula, Hostyk, Joseph, Parker, Corette B, Goldenberg, Robert, Saade, George R, Dudley, Donald J, Pinar, Halit, Hogue, Carol, Reddy, Uma M, Silver, Robert M, Aggarwal, Vimla, Allen, Andrew S, Wapner, Ronald J, Goldstein, David B
Published in The New England journal of medicine (17.09.2020)

by Dharmadhikari, Avinash V., Markowitz, Alexander L., Han, Jennifer, Estrine, Dolores B., Xu, Dong, Ma, Katherine, Fong, Cindy, Fernandez, Bridget A., Deardorff, Matthew A., Schmidt, Ryan J., Ji, Jianling, Raca, Gordana
Published in Genetics in medicine (01.08.2025)

by Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.
Published in American journal of human genetics (03.05.2018)

by Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi, Abellar, Rosanna G., Bateman, David A., Wilson, Ashley L., Markham, Melinda H., Slamon, Jill, Santos-Simarro, Fernando, Palomares, María, Nevado, Julián, Lapunzina, Pablo, Chung, Brian Hon-Yin, Wong, Wai-Lap, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Kerem, Eitan, Reiter, Joel, Ambalavanan, Namasivayam, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret L., Hamilton, Sara Jane, Schlade-Bartusiak, Kamilla, English, Dawn, Hendson, Glenda, Roeder, Elizabeth R., DeNapoli, Thomas S., Littlejohn, Rebecca Okashah, Wolff, Daynna J., Wagner, Carol L., Yeung, Alison, Francis, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Janssens, Sandra, De Baere, Elfride, Menten, Björn, Loccufier, Anne, Vanwalleghem, Lieve, Moerman, Philippe, Sznajer, Yves, Lay, Amy S., Kussmann, Jennifer L., Chawla, Jasneek, Payton, Diane J., Phillips, Gael E., Brosens, Erwin, Tibboel, Dick, de Klein, Annelies, Maystadt, Isabelle, Fisher, Richard, Sebire, Neil, Male, Alison, Chopra, Maya, Pinner, Jason, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Lees, Melissa, Mead, Zoe, Quarrell, Oliver, Sayers, Richard, Owens, Martina, Shaw-Smith, Charles, Lioy, Janet, McKay, Eileen, de Leeuw, Nicole, Feenstra, Ilse, Spruijt, Liesbeth, Elmslie, Frances, Thiruchelvam, Timothy, Bacino, Carlos A., Langston, Claire, Lupski, James R., Sen, Partha, Popek, Edwina, Stankiewicz, Paweł
Published in Human genetics (01.05.2016)

by Dharmadhikari, Avinash V., Abad, Maria Alba, Khan, Sheraz, Maroofian, Reza, Sands, Tristan T., Ullah, Farid, Samejima, Itaru, Shen, Yanwen, Wear, Martin A., Moore, Kiara E., Kondakova, Elena, Mitina, Natalia, Schaub, Theres, Lee, Grace K., Umandap, Christine H., Berger, Sara M., Iglesias, Alejandro D., Popp, Bernt, Abou Jamra, Rami, Gabriel, Heinz, Rentas, Stefan, Rippert, Alyssa L., Gray, Christopher, Izumi, Kosuke, Conlin, Laura K., Koboldt, Daniel C., Mosher, Theresa Mihalic, Hickey, Scott E., Albert, Dara V. F., Norwood, Haley, Lewanda, Amy Feldman, Dai, Hongzheng, Liu, Pengfei, Mitani, Tadahiro, Marafi, Dana, Eker, Hatice Koçak, Pehlivan, Davut, Posey, Jennifer E., Lippa, Natalie C., Vena, Natalie, Heinzen, Erin L., Goldstein, David B., Mignot, Cyril, de Sainte Agathe, Jean-Madeleine, Al-Sannaa, Nouriya Abbas, Zamani, Mina, Sadeghian, Saeid, Azizimalamiri, Reza, Seifia, Tahere, Zaki, Maha S., Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Alabdi, Lama, Alkuraya, Fowzan Sami, Dawoud, Heba, Lofty, Aya, Bauer, Peter, Zifarelli, Giovanni, Afzal, Erum, Zafar, Faisal, Efthymiou, Stephanie, Gossett, Daniel, Towne, Meghan C., Yeneabat, Raey, Perez-Duenas, Belen, Cazurro-Gutierrez, Ana, Verdura, Edgard, Cantarin-Extremera, Veronica, Marques, Ana do Vale, Helwak, Aleksandra, Tollervey, David, Wontakal, Sandeep N., Aggarwal, Vimla S., Rosenfeld, Jill A., Tarabykin, Victor, Ohta, Shinya, Lupski, James R., Houlden, Henry, Earnshaw, William C., Davis, Erica E., Jeyaprakash, A. Arockia, Liao, Jun
Published in Nature communications (17.02.2025)

by Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., Schaaf, Christian P.
Published in Genetics in medicine (01.09.2022)

by Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick E., Garvin, A. Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan F. M., Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Robert M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Published in Human mutation (01.06.2013)

by Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Wambach, Jennifer A., Towe, Chris T., White, Frances V., Grady, R. Mark, Eghtesady, Pirooz, Cole, F. Sessions, Deutsch, Gail, Sen, Partha, Stankiewicz, Paweł
Published in American journal of medical genetics. Part A (01.08.2014)

by Thomas-Wilson, Amanda, Dharmadhikari, Avinash V, Heymann, Jonas J, Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B, Ganapathi, Mythily
Published in Cold Spring Harbor molecular case studies (01.02.2022)