by Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.
Published in American journal of human genetics (07.08.2014)

by Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
Published in European journal of human genetics : EJHG (01.04.2019)

by Zernant, Jana, Xie, Yajing (Angela), Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B., Strom, Samuel P., Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M., Yuan, Bo, Ayyagari, Radha, Nagy, Peter L., Tsang, Stephen H., Gouras, Peter, Collison, Frederick T., Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Published in Human molecular genetics (20.12.2014)

by Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.
Published in Genetics in medicine (01.08.2020)

by Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tartaglia, Nicole R, Evans, Patricia, Campbell, William M, Chun-Hui Tsai, Anne, Parsley, Lea, Grayson, Stephanie W, Scheuerle, Angela, Luzzi, Carol D, Thomas, Sandra K, Eng, Patricia A, Kang, Sung-Hae L, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau W
Published in European journal of human genetics : EJHG (01.12.2012)

by Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Published in HGG advances (11.04.2024)

by James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Published in Genome medicine (02.02.2016)

by Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi, Ullah, Farid, Võsa, Urmo, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Milani, Lili, Esko, Tõnu, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Mägi, Reedik, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E.
Published in Cell (04.08.2022)

by Boone, Philip M., Buenaventura, Teresa, King, James W. D., Merkenschlager, Matthias
Published in Nature reviews. Genetics (01.08.2025)

by Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Published in American journal of human genetics (03.08.2023)

by Boone, Philip M., Scott, Rachel M., Marciniak, Stefan J., Henske, Elizabeth P., Raby, Benjamin A.
Published in American journal of respiratory and critical care medicine (01.06.2019)

by Gambin, Tomasz, Akdemir, Zeynep C., Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M.B., Shaw, Chad, Jhangiani, Shalini, Boone, Philip M., Eldomery, Mohammad K., Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W., Boerwinkle, Eric, Beaudet, Arthur L., Gibbs, Richard A., Lupski, James R.
Published in Nucleic acids research (28.02.2017)

by Mohajeri, Kiana, Yadav, Rachita, D'haene, Eva, Boone, Philip M., Erdin, Serkan, Gao, Dadi, Moyses-Oliveira, Mariana, Bhavsar, Riya, Currall, Benjamin B., O'Keefe, Kathryn, Burt, Nicholas D., Lowther, Chelsea, Lucente, Diane, Salani, Monica, Larson, Mathew, Redin, Claire, Dudchenko, Olga, Aiden, Erez Lieberman, Menten, Björn, Tai, Derek J.C., Gusella, James F., Vergult, Sarah, Talkowski, Michael E.
Published in American journal of human genetics (03.11.2022)

by Scott, Rachel M, Henske, Elizabeth P, Raby, Benjamin, Boone, Philip M, Rusk, Rosemary A, Marciniak, Stefan J
Published in Thorax (01.03.2018)

by Mostovoy, Yulia, Boone, Philip M., Huang, Yongqing, Garimella, Kiran V., Tan, Kar-Tong, Russell, Bianca E., Salani, Monica, de Esch, Celine E.F., Lemanski, John, Curall, Benjamin, Hauenstein, Jen, Lucente, Diane, Bowers, Tera, DeSmet, Tim, Gabriel, Stacey, Morton, Cynthia C., Meyerson, Matthew, Hastie, Alex R., Gusella, James, Quintero-Rivera, Fabiola, Brand, Harrison, Talkowski, Michael E.
Published in American journal of human genetics (05.12.2024)

by van Oirsouw, Amber S E, Hadders, Michael A, Koetsier, Martijn, Peters, Edith D J, Assia Batzir, Nurit, Barakat, Tahsin Stefan, Baralle, Diana, Beil, Adelyn, Bonnet-Dupeyron, Marie-Noëlle, Boone, Philip M, Bouman, Arjan, Carere, Deanna Alexis, Cogne, Benjamin, Dunnington, Leslie, Farach, Laura S, Genetti, Casie A, Isidor, Bertrand, Januel, Louis, Joshi, Aakash, Lahiri, Nayana, Lee, Kristen N, Maya, Idit, McEntagart, Meriel, Northrup, Hope, Pujalte, Mathilde, Richardson, Kate, Walker, Susan, Koeleman, Bobby P C, Alders, Mariëlle, van Jaarsveld, Richard H, Oegema, Renske
Published in Human molecular genetics (16.08.2025)

by de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., Richmond, Todd, Geoghegan, Joel, O'Moore, Kathleen, de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Published in Human mutation (01.10.2013)

by de Ligt, Joep, Boone, Philip M., Pfundt, Rolph, Vissers, Lisenka E.L.M., de Leeuw, Nicole, Shaw, Christine, Brunner, Han G., Lupski, James R., Veltman, Joris A., Hehir-Kwa, Jayne Y.
Published in Genomics data (01.12.2014)

by Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Published in Human mutation (01.12.2010)

by Boone, Philip M., Paterson, Scott, Mohajeri, Kiana, Zhu, Wenmiao, Genetti, Casie A., Tai, Derek J. C., Nori, Neeharika, Agrawal, Pankaj B., Bacino, Carlos A., Bi, Weimin, Talkowski, Michael E., Hogan, Benjamin M., Rodan, Lance H.
Published in American journal of medical genetics. Part A (01.01.2020)