Search Results - "Coban Akdemir, Zeynep H"

Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine

Li, Mark M.^Aff4, Awasthi, Sharad^Aff5, Ghosh, Sumanta^Aff5, Bisht, Deepa^Aff5, Coban Akdemir, Zeynep H.^Aff11, Sheynkman, Gloria M.^{Aff12, Aff13, Aff14}, Sahni, Nidhi^{Aff5, Aff6, Aff7}, Yi, S. Stephen^{Aff4, Aff8, Aff9, Aff10}

Kasid, Usha N.^Aff2, Clarke, Robert^Aff3, Walker, John M.^Aff1

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Jolly, Angad ¹, Du, Haowei ¹, Borel, Christelle ², Chen, Na ³, Zhao, Sen ^{4, 5}, Grochowski, Christopher M. ¹, Duan, Ruizhi ¹, Fatih, Jawid M. ¹, Dawood, Moez ¹, Salvi, Sejal ⁶, Jhangiani, Shalini N. ⁶, Muzny, Donna M. ⁶, Koch, André ⁷, Rouskas, Konstantinos ^{8, 9}, Glentis, Stavros ⁸, Deligeoroglou, Efthymios ¹⁰, Bacopoulou, Flora ¹⁰, Wise, Carol A. ^{11, 12}, Dietrich, Jennifer E. ^{13, 14, 15}, Van den Veyver, Ignatia B. ^{1, 13, 15}, Dimas, Antigone S. ⁸, Brucker, Sara ⁷, Sutton, V. Reid ^{1, 15}, Gibbs, Richard A. ^{1, 6}, Antonarakis, Stylianos E. ^{2, 16, 17}, Wu, Nan ^{1, 4, 5}, Coban-Akdemir, Zeynep H. ¹, Zhu, Lan ³, Posey, Jennifer E. ¹, Lupski, James R. ^{1, 6, 14, 15, 18, ∗}

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Ngo, Kathie J, Rexach, Jessica E, Lee, Hane, Petty, Lauren E, Perlman, Susan, Valera, Juliana M, Deignan, Joshua L, Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E, Jhangiani, Shalini N, Coban‐Akdemir, Zeynep H, Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B, Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D, Grody, Wayne W, Gibbs, Richard, Geschwind, Daniel H, Lupski, James R, Below, Jennifer E, Nelson, Stanley F, Fogel, Brent L

application/pdf

AI-DrugNet: A network-based deep learning model for drug repurposing and combination therapy in neurological disorders

Pan, Xingxin, Yun, Jun, Coban Akdemir, Zeynep H., Jiang, Xiaoqian, Wu, Erxi, Huang, Jason H., Sahni, Nidhi, Yi, S. Stephen

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, Denommé-Pichon, Anne-Sophie

application/pdf

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Adams, Marcia, Aguet, François, Akay, Gulsen, Anderson, Peter, Antonescu, Corina, Arachchi, Harindra M., Atik, Mehmed M., Austin-Tse, Christina A., Babb, Larry, Bacus, Tamara J., Bahrambeigi, Vahid, Balasubramanian, Suganthi, Bayram, Yavuz, Beaudet, Arthur L., Beck, Christine R., Belmont, John W., Below, Jennifer E., Bilguvar, Kaya, Boehm, Corinne D., Boerwinkle, Eric, Boone, Philip M., Bowne, Sara J., Brand, Harrison, Buckingham, Kati J., Byrne, Alicia B., Calame, Daniel, Campbell, Ian M., Cao, Xiaolong, Carvalho, Claudia, Chander, Varuna, Chang, Jaime, Chao, Katherine R., Chinn, Ivan K., Clarke, Declan, Collins, Ryan L., Cummings, Beryl, Dardas, Zain, Dawood, Moez, Delano, Kayla, DiTroia, Stephanie P., Doddapaneni, Harshavardhan, Du, Haowei, Du, Renqian, Duan, Ruizhi, Eldomery, Mohammad, Eng, Christine M., England, Eleina, Evangelista, Emily, Everett, Selin, Fatih, Jawid, Felsenfeld, Adam, Francioli, Laurent C., Frazar, Christian D., Fu, Jack, Gamarra, Emmanuel, Gambin, Tomasz, Gan, Weiniu, Gandhi, Mira, Ganesh, Vijay S., Garimella, Kiran V., Gauthier, Laura D., Giroux, Danielle, Gonzaga-Jauregui, Claudia, Goodrich, Julia K., Gordon, William W., Griffith, Sean, Grochowski, Christopher M., Gu, Shen, Gudmundsson, Sanna, Hall, Stacey J., Hansen, Adam, Harel, Tamar, Harmanci, Arif O., Herman, Isabella, Hetrick, Kurt, Hijazi, Hadia, Horike-Pyne, Martha, Hsu, Elvin, Hu, Jianhong, Huang, Yongqing, Hurless, Jameson R., Jahl, Steve, Jarvik, Gail P., Jiang, Yunyun, Johanson, Eric, Jolly, Angad, Karaca, Ender, Khayat, Michael, Knight, James, Kolar, J. Thomas, Kumar, Sushant, Lalani, Seema, Laricchia, Kristen M., Larkin, Kathryn E., Leal, Suzanne M., Lemire, Gabrielle, Lewis, Richard A., Li, He, Ling, Hua, Lipson, Rachel B., Liu, Pengfei, Lovgren, Alysia Kern, López-Giráldez, Francesc, MacMillan, Melissa P., Mangilog, Brian E., Mano, Stacy, Marafi, Dana, Marosy, Beth, Marshall, Jamie L., Martin, Renan, Marvin, Colby T., Mawhinney, Michelle, McGee, Sean, McGoldrick, Daniel J., Mehaffey, Michelle, Mekonnen, Betselote, Meng, Xiaolu, Mitani, Tadahiro, Miyake, Christina Y., Mohr, David, Morris, Shaine, Mullen, Thomas E., Murdock, David R., Murugan, Mullai, Muzny, Donna M., Myers, Ben, Neira, Juanita, Nguyen, Kevin K., Nielsen, Patrick M., Nudelman, Natalie, O’Heir, Emily, O’Leary, Melanie C., Ongaco, Chrissie, Orange, Jordan, Osei-Owusu, Ikeoluwa A., Paine, Ingrid S., Pais, Lynn S., Paschall, Justin, Patterson, Karynne, Pehlivan, Davut, Pelle, Benjamin, Penney, Samantha, Perez de Acha Chavez, Jorge, Pierce-Hoffman, Emma, Poli, Cecilia M., Punetha, Jaya, Radhakrishnan, Aparna, Richardson, Matthew A., Rodrigues, Eliete, Roote, Gwendolin T., Rosenfeld, Jill A., Ryke, Erica L., Sabo, Aniko, Sanchez, Alice, Schrauwen, Isabelle, Scott, Daryl A., Sedlazeck, Fritz, Serrano, Jillian, Shaw, Chad A., Shelford, Tameka, Shively, Kathryn M., Singer-Berk, Moriel, Smith, Joshua D., Snow, Hana, Snyder, Grace, Solomonson, Matthew, Son, Rachel G., Song, Xiaofei, Stankiewicz, Pawel, Stephan, Taylorlyn, Sutton, V. Reid, Sveden, Abigail, Sánchez, Diana Cornejo, Tackett, Monica, Talkowski, Michael, Threlkeld, Machiko S., Tiao, Grace, Udler, Miriam S., Vail, Laura, Valivullah, Zaheer, Valkanas, Elise, VanNoy, Grace E., Wang, Qingbo S., Wang, Gao, Wang, Lu, Wangler, Michael F., Watts, Nicholas A., Weisburd, Ben, Weiss, Jeffrey M., Wheeler, Marsha M., White, Janson J., Williamson, Clara E., Wilson, Michael W., Wiszniewski, Wojciech, Withers, Marjorie A., Witmer, Dane, Witzgall, Lauren, Wohler, Elizabeth, Wojcik, Monica H., Wong, Isaac, Wood, Jordan C., Wu, Nan, Xing, Jinchuan, Yang, Yaping, Yi, Qian, Yuan, Bo, Zeiger, Jordan E., Zhang, Chaofan, Zhang, Peng, Zhang, Yan, Zhang, Xiaohong, Zhang, Yeting, Zhang, Shifa, Zoghbi, Huda, van den Veyver, Igna, Baxter, Samantha M., Posey, Jennifer E., Lake, Nicole J., Sobreira, Nara, Chong, Jessica X., Buyske, Steven, Blue, Elizabeth E., Chadwick, Lisa H., Coban-Akdemir, Zeynep H., Doheny, Kimberly F., Davis, Colleen P., Lek, Monkol, Wellington, Christopher, Jhangiani, Shalini N., Gerstein, Mark, Gibbs, Richard A., Lifton, Richard P., MacArthur, Daniel G., Matise, Tara C., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Mane, Shrikant, Nickerson, Deborah A., Rehm, Heidi L., O’Donnell-Luria, Anne

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Forbes, Lisa R., Eckstein, Olive S., Gulati, Nitya, Peckham-Gregory, Erin C., Ozuah, Nmazuo W., Lubega, Joseph, El-Mallawany, Nader K., Agrusa, Jennifer E., Poli, M. Cecilia, Vogel, Tiphanie P., Chaimowitz, Natalia S., Rider, Nicholas L., Mace, Emily M., Orange, Jordan S., Caldwell, Jason W., Aldave-Becerra, Juan C., Jolles, Stephen, Saettini, Francesco, Chong, Hey J., Stray-Pedersen, Asbjorg, Heslop, Helen E., Kamdar, Kala Y., Rouce, R. Helen, Muzny, Donna M., Jhangiani, Shalini N., Gibbs, Richard A., Coban-Akdemir, Zeynep H., Lupski, James R., McClain, Kenneth L., Allen, Carl E., Chinn, Ivan K.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Coban Akdemir, Zeynep H., Wilson, Theresa A., Jhangiani, Shalini N., Chen, Ed, Eng, Christine M., Muzny, Donna, Posey, Jennifer E., Yang, Yaping, Zhang, David Y., Shaw, Chad, Liu, Pengfei, Lupski, James R., Stankiewicz, Paweł

A Genocentric Approach to Discovery of Mendelian Disorders

Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Hansen, Adam W., Murugan, Mullai, Li, He, Khayat, Michael M., Wang, Liwen, Rosenfeld, Jill, Andrews, B. Kim, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Sedlazeck, Fritz J., Ashley-Koch, Allison E., Liu, Pengfei, Muzny, Donna M., Sabo, Aniko, Posey, Jennifer E., Yang, Yaping, Wangler, Michael F., Eng, Christine M., Sutton, V. Reid, Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A.

This result is not displayed to guests.
Login for full access.

Insights into genetics, human biology and disease gleaned from family based genomic studies

Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M.B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., 3rd, Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Chinn, Ivan K., Eckstein, Olive S., Peckham-Gregory, Erin C., Goldberg, Baruch R., Forbes, Lisa R., Nicholas, Sarah K., Mace, Emily M., Vogel, Tiphanie P., Abhyankar, Harshal A., Diaz, Maria I., Heslop, Helen E., Krance, Robert A., Martinez, Caridad A., Nguyen, Trung C., Bashir, Dalia A., Goldman, Jordana R., Stray-Pedersen, Asbjørg, Pedroza, Luis A., Poli, M. Cecilia, Aldave-Becerra, Juan C., McGhee, Sean A., Al-Herz, Waleed, Chamdin, Aghiad, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Cao, Tram N., Hong, Diana N., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., McClain, Kenneth L., Allen, Carl E.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Coban Akdemir, Zeynep H., Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla M., Canter, Debra L., Mace, Emily M., Vece, Timothy J., Allen, Carl E., Abhyankar, Harshal A., Boone, Philip M., Beck, Christine R., Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E., Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T.N., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas L., Chinen, Javier, Cao, Tram N., Smith, Eric A., Caldirola, Maria Soledad, Bezrodnik, Liliana, Lugo Reyes, Saul Oswaldo, Espinosa Rosales, Francisco J., Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Trujillo Vargas, Claudia M., Aldave Becerra, Juan Carlos, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M., Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra^{Aff4, Aff5}, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H.^{Aff11, Aff12}, van Dijck, Anke, Doummar, Diane^{Aff13, Aff14, Aff15}, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan^{Aff19, Aff20}, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu^{Aff22, Aff35}, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline^{Aff23, Aff25}, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary^{Aff3, Aff36}, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg^{Aff11, Aff29, Aff30}, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A.^{Aff1, Aff34}, Kooy, R. Frank, Vissers, Lisenka E. L. M., de Vries, Bert B. A.^Aff1

Two male sibs with severe micrognathia and a missense variant in MED12

Prescott, Trine E., Kulseth, Mari Ann, Heimdal, Ketil R., Stadheim, Barbro, Hopp, Einar, Gambin, Tomasz, Coban Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Stray-Pedersen, Asbjørg

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Makrythanasis, Periklis, Maroofian, Reza^{Aff2, Aff25}, Stray-Pedersen, Asbjørg^{Aff3, Aff4, Aff5, Aff6}, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N.^{Aff6, Aff10}, Coban Akdemir, Zeynep H., Gambin, Tomasz^{Aff6, Aff11}, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A.^{Aff1, Aff13}, Ahangari, Najmeh^{Aff14, Aff15}, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff^{Aff18, Aff19}, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R.^{Aff6, Aff10, Aff20, Aff21}, Karimiani, Ehsan Ghayoor^{Aff22, Aff23}, Antonarakis, Stylianos E.^{Aff1, Aff13, Aff24}