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Chad Haldeman‐Englert
University of Auckland
20H-index
67Paper Count
2.4KCitation Count
Published Papers 18
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Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.png)
2025-11-01
0
OAAI
Haanpaa, Maria K.; Haldeman-englert, Chad R.; Hietala, Marja; Tanverdi, Melisa S.; Koty, Patrick P.; Brightman, Diana; Dosunmu, Eniolami; Tibrewal, Shailja; Kaur, Savleen; Kaur, Anupriya; Verma, Raj Kumar; De Alba Campomanes, Alejandra G.; Utz, Virginia; Slavotinek, Anne M.; Curry, Cynthia
2025-11-010OAAIHaanpaa, Maria K.; Haldeman-englert, Chad R.; Hietala, Marja; Tanverdi, Melisa S.; Koty, Patrick P.; Brightman, Diana; Dosunmu, Eniolami; Tibrewal, Shailja; Kaur, Savleen; Kaur, Anupriya; Verma, Raj Kumar; De Alba Campomanes, Alejandra G.; Utz, Virginia; Slavotinek, Anne M.; Curry, Cynthia.png){kind=icon}
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SaveFurther delineation of the SCAF4-associated neurodevelopmental disorder2024-12-120OAAISchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane
2024-12-120OAAISchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, ChristianeShareSaveMolecular and Phenotypic Characterization of the RORB-Related Disorder.png)
NEUROLOGY2024-01-231Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan
NEUROLOGYIF8.5
2024-01-231PREAI
Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noemie; Korff, Christian M.; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A.; Labalme, Audrey; Cuddapah, Vishnu A.; Ruggiero, Sarah M.; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O.; Helbig, Katherine L.; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A.; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S.; Rosenfeld, Jill A.; Au, Margaret; Grand, Katheryn; Graham Jr, John M.; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E.; Koop, Klaas; Rudolf, Gabrielle; Kury, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, GaetanShareSaveRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies2023-11-012OAAINil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
2023-11-012OAAINil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.ShareSaveResponse to Biesecker et al.2021-09-010OAAIBiesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.
2021-09-010OAAIBiesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.ShareSaveVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painGENETICS IN MEDICINE2021-08-0115OAAIMarbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
GENETICS IN MEDICINEIF6.2
2021-08-0115OAAIMarbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.ShareSaveTranscriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genesSCIENTIFIC REPORTS2021-05-288OAAIMullegama, Sureni, V; Klein, Steven D.; Williams, Stephen R.; Innis, Jeffrey W.; Probst, Frank J.; Haldeman-Englert, Chad; Martinez-Agosto, Julian A.; Yang, Ying; Tian, Yuchen; Elsea, Sarah H.; Ezashi, Toshihiko
SCIENTIFIC REPORTSIF3.9
2021-05-288OAAIMullegama, Sureni, V; Klein, Steven D.; Williams, Stephen R.; Innis, Jeffrey W.; Probst, Frank J.; Haldeman-Englert, Chad; Martinez-Agosto, Julian A.; Yang, Ying; Tian, Yuchen; Elsea, Sarah H.; Ezashi, ToshihikoShareSaveDLG4-related synaptopathy: a new rare brain disorderGENETICS IN MEDICINE2021-05-0128OAAIRodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep
GENETICS IN MEDICINEIF6.2
2021-05-0128OAAIRodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, ZeynepShareSaveA dyadic approach to the delineation of diagnostic entities in clinical genomics2021-01-0183OAAIBiesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.
2021-01-0183OAAIBiesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.ShareSavePIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome2015-04-0829OAAINevado, Julian; Rosenfeld, Jill A.; Mena, Rocio; Palomares-Bralo, Maria; Vallespin, Elena; Angeles Mori, Maria; Tenorio, Jair A.; Gripp, Karen W.; Denenberg, Elizabeth; del Campo, Miguel; Plaja, Alberto; Martin-Arenas, Ruben; Santos-Simarro, Fernando; Armengol, Lluis; Gowans, Gordon; Orera, Maria; Carmen Sanchez-Hombre, M.; Corbacho-Fernandez, Esther; Fernandez-Jaen, Alberto; Haldeman-Englert, Chad; Saitta, Sulagna; Dubbs, Holly; Benedicte, Duban B.; Li, Xia; Devaney, Lani; Dinulos, Mary Beth; Vallee, Stephanie; Carmen Crespo, M.; Fernandez, Blanca; Fernandez-Montano, Victoria E.; Rueda-Arenas, Inmaculada; Luisa de Torres, Maria; Ellison, Jay W.; Raskin, Salmo; Venegas-Vega, Carlos A.; Fernandez-Ramirez, Fernando; Delicado, Alicia; Garcia-Minaur, Sixto; Lapunzina, Pablo
2015-04-0829OAAINevado, Julian; Rosenfeld, Jill A.; Mena, Rocio; Palomares-Bralo, Maria; Vallespin, Elena; Angeles Mori, Maria; Tenorio, Jair A.; Gripp, Karen W.; Denenberg, Elizabeth; del Campo, Miguel; Plaja, Alberto; Martin-Arenas, Ruben; Santos-Simarro, Fernando; Armengol, Lluis; Gowans, Gordon; Orera, Maria; Carmen Sanchez-Hombre, M.; Corbacho-Fernandez, Esther; Fernandez-Jaen, Alberto; Haldeman-Englert, Chad; Saitta, Sulagna; Dubbs, Holly; Benedicte, Duban B.; Li, Xia; Devaney, Lani; Dinulos, Mary Beth; Vallee, Stephanie; Carmen Crespo, M.; Fernandez, Blanca; Fernandez-Montano, Victoria E.; Rueda-Arenas, Inmaculada; Luisa de Torres, Maria; Ellison, Jay W.; Raskin, Salmo; Venegas-Vega, Carlos A.; Fernandez-Ramirez, Fernando; Delicado, Alicia; Garcia-Minaur, Sixto; Lapunzina, PabloShareSaveDe Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay2015-03-01124OAAIChong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C. M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J. M.; Wassink-Ruiter, Jolien S. Klein; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.
2015-03-01124OAAIChong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C. M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J. M.; Wassink-Ruiter, Jolien S. Klein; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.ShareSaveMutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy (vol 94, pg 62, 2014)2014-02-010OAAITuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Au; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J.
2014-02-010OAAITuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Au; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J.ShareSaveMutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy2014-01-01105OAAITuz, Karma; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J.
2014-01-01105OAAITuz, Karma; Bachmann-Gagescu, Ruxandra; O'Day, Diana R.; Hua, Kiet; Isabella, Christine R.; Phelps, Ian G.; Stolarski, Allan E.; O'Roak, Brian J.; Dempsey, Jennifer C.; Lourenco, Charles; Alswaid, Abdulrahman; Boennemann, Carsten G.; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J.; Topcu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E.; Glass, Ian A.; Shendure, Jay; Neuhauss, Stephan C. F.; Haldeman-Englert, Chad R.; Doherty, Dan; Ferland, Russell J.ShareSaveGenes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes2010-12-0823OAAIShaikh, Tamim H.; Haldeman-Englert, Chad; Geiger, Elizabeth A.; Ponting, Chris P.; Webber, Caleb
2010-12-0823OAAIShaikh, Tamim H.; Haldeman-Englert, Chad; Geiger, Elizabeth A.; Ponting, Chris P.; Webber, CalebShareSaveA Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)2010-08-0138OAAISheridan, Molly B.; Kato, Takema; Haldeman-Englert, Chad; Jalali, G. Reza; Milunsky, Jeff M.; Zou, Ying; Klaes, Ruediger; Gimelli, Georgio; Gimelli, Stefania; Gemmill, Robert M.; Drabkin, Harry A.; Hacker, April M.; Brown, Julia; Tomkins, David; Shaikh, Tamim H.; Kurahashi, Hiroki; Zackai, Elaine H.; Emanuel, Beverly S.
2010-08-0138OAAISheridan, Molly B.; Kato, Takema; Haldeman-Englert, Chad; Jalali, G. Reza; Milunsky, Jeff M.; Zou, Ying; Klaes, Ruediger; Gimelli, Georgio; Gimelli, Stefania; Gemmill, Robert M.; Drabkin, Harry A.; Hacker, April M.; Brown, Julia; Tomkins, David; Shaikh, Tamim H.; Kurahashi, Hiroki; Zackai, Elaine H.; Emanuel, Beverly S.ShareSaveMicroduplications of 16p11.2 are associated with schizophreniaNATURE GENETICS2009-10-25636OAAIMcCarthy, Shane E.; Makarov, Vladimir; Kirov, George; Addington, Anjene M.; McClellan, Jon; Yoon, Seungtai; Perkins, Diana O.; Dickel, Diane E.; Kusenda, Mary; Krastoshevsky, Olga; Krause, Verena; Kumar, Ravinesh A.; Grozeva, Detelina; Malhotra, Dheeraj; Walsh, Tom; Zackai, Elaine H.; Kaplan, Paige; Ganesh, Jaya; Krantz, Ian D.; Spinner, Nancy B.; Roccanova, Patricia; Bhandari, Abhishek; Pavon, Kevin; Lakshmi, B.; Leotta, Anthony; Kendall, Jude; Lee, Yoon-ha; Vacic, Vladimir; Gary, Sydney; Iakoucheva, Lilia M.; Crow, Timothy J.; Christian, Susan L.; Lieberman, Jeffrey A.; Stroup, T. Scott; Lehtimaki, Terho; Puura, Kaija; Haldeman-Englert, Chad; Pearl, Justin; Goodell, Meredith; Willour, Virginia L.; DeRosse, Pamela; Steele, Jo; Kassem, Layla; Wolff, Jessica; Chitkara, Nisha; McMahon, Francis J.; Malhotra, Anil K.; Potash, James B.; Schulze, Thomas G.; Noethen, Markus M.; Cichon, Sven; Rietschel, Marcella; Leibenluft, Ellen; Kustanovich, Vlad; Lajonchere, Clara M.; Sutcliffe, James S.; Skuse, David; Gill, Michael; Gallagher, Louise; Mendell, Nancy R.; Craddock, Nick; Owen, Michael J.; O'Donovan, Michael C.; Shaikh, Tamim H.; Susser, Ezra; DeLisi, Lynn E.; Sullivan, Patrick F.; Deutsch, Curtis K.; Rapoport, Judith; Levy, Deborah L.; King, Mary-Claire; Sebat, Jonathan
NATURE GENETICSIF31.8
2009-10-25636OAAIMcCarthy, Shane E.; Makarov, Vladimir; Kirov, George; Addington, Anjene M.; McClellan, Jon; Yoon, Seungtai; Perkins, Diana O.; Dickel, Diane E.; Kusenda, Mary; Krastoshevsky, Olga; Krause, Verena; Kumar, Ravinesh A.; Grozeva, Detelina; Malhotra, Dheeraj; Walsh, Tom; Zackai, Elaine H.; Kaplan, Paige; Ganesh, Jaya; Krantz, Ian D.; Spinner, Nancy B.; Roccanova, Patricia; Bhandari, Abhishek; Pavon, Kevin; Lakshmi, B.; Leotta, Anthony; Kendall, Jude; Lee, Yoon-ha; Vacic, Vladimir; Gary, Sydney; Iakoucheva, Lilia M.; Crow, Timothy J.; Christian, Susan L.; Lieberman, Jeffrey A.; Stroup, T. Scott; Lehtimaki, Terho; Puura, Kaija; Haldeman-Englert, Chad; Pearl, Justin; Goodell, Meredith; Willour, Virginia L.; DeRosse, Pamela; Steele, Jo; Kassem, Layla; Wolff, Jessica; Chitkara, Nisha; McMahon, Francis J.; Malhotra, Anil K.; Potash, James B.; Schulze, Thomas G.; Noethen, Markus M.; Cichon, Sven; Rietschel, Marcella; Leibenluft, Ellen; Kustanovich, Vlad; Lajonchere, Clara M.; Sutcliffe, James S.; Skuse, David; Gill, Michael; Gallagher, Louise; Mendell, Nancy R.; Craddock, Nick; Owen, Michael J.; O'Donovan, Michael C.; Shaikh, Tamim H.; Susser, Ezra; DeLisi, Lynn E.; Sullivan, Patrick F.; Deutsch, Curtis K.; Rapoport, Judith; Levy, Deborah L.; King, Mary-Claire; Sebat, JonathanShareSaveHigh-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applicationsGENOME RESEARCH2009-07-10338OAAIShaikh, Tamim H.; Gai, Xiaowu; Perin, Juan C.; Glessner, Joseph T.; Xie, Hongbo; Murphy, Kevin; O'Hara, Ryan; Casalunovo, Tracy; Conlin, Laura K.; D'Arcy, Monica; Frackelton, Edward C.; Geiger, Elizabeth A.; Haldeman-Englert, Chad; Imielinski, Marcin; Kim, Cecilia E.; Medne, Livija; Annaiah, Kiran; Bradfield, Jonathan P.; Dabaghyan, Elvira; Eckert, Andrew; Onyiah, Chioma C.; Ostapenko, Svetlana; Otieno, F. George; Santa, Erin; Shaner, Julie L.; Skraban, Robert; Smith, Ryan M.; Elia, Josephine; Goldmuntz, Elizabeth; Spinner, Nancy B.; Zackai, Elaine H.; Chiavacci, Rosetta M.; Grundmeier, Robert; Rappaport, Eric F.; Grant, Struan F. A.; White, Peter S.; Hakonarson, Hakon
GENOME RESEARCHIF5.5
2009-07-10338OAAIShaikh, Tamim H.; Gai, Xiaowu; Perin, Juan C.; Glessner, Joseph T.; Xie, Hongbo; Murphy, Kevin; O'Hara, Ryan; Casalunovo, Tracy; Conlin, Laura K.; D'Arcy, Monica; Frackelton, Edward C.; Geiger, Elizabeth A.; Haldeman-Englert, Chad; Imielinski, Marcin; Kim, Cecilia E.; Medne, Livija; Annaiah, Kiran; Bradfield, Jonathan P.; Dabaghyan, Elvira; Eckert, Andrew; Onyiah, Chioma C.; Ostapenko, Svetlana; Otieno, F. George; Santa, Erin; Shaner, Julie L.; Skraban, Robert; Smith, Ryan M.; Elia, Josephine; Goldmuntz, Elizabeth; Spinner, Nancy B.; Zackai, Elaine H.; Chiavacci, Rosetta M.; Grundmeier, Robert; Rappaport, Eric F.; Grant, Struan F. A.; White, Peter S.; Hakonarson, HakonShareSaveIdentification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region2009-01-2766OAAICoppinger, Justine; McDonald-McGinn, Donna; Zackai, Elaine; Shane, Kate; Atkin, Joan F.; Asamoah, Alexander; Leland, Robert; Weaver, David D.; Lansky-Shafer, Susan; Schmidt, Karen; Feldman, Heidi; Cohen, William; Phalin, Judy; Powell, Berkley; Ballif, Blake C.; Theisen, Aaron; Geiger, Elizabeth; Haldeman-Englert, Chad; Shaikh, Tamim H.; Saitta, Sulagna; Bejjani, Bassem A.; Shaffer, Lisa G.
2009-01-2766OAAICoppinger, Justine; McDonald-McGinn, Donna; Zackai, Elaine; Shane, Kate; Atkin, Joan F.; Asamoah, Alexander; Leland, Robert; Weaver, David D.; Lansky-Shafer, Susan; Schmidt, Karen; Feldman, Heidi; Cohen, William; Phalin, Judy; Powell, Berkley; Ballif, Blake C.; Theisen, Aaron; Geiger, Elizabeth; Haldeman-Englert, Chad; Shaikh, Tamim H.; Saitta, Sulagna; Bejjani, Bassem A.; Shaffer, Lisa G.ShareSaveResearch Directions
No research directions