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J
Jill R. Murrell
children's hospital of philadelphia
57H-index
258Paper Count
1.5WCitation Count
Published Papers 67
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2025-10-27
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Maryam Erfanian Omidvar; Jill R Murrell; Anna J Prentice; Ingo Helbig; Holger Lerche; Patrick May; Epi25 Collaborative
BrainIF11.7
2025-10-270PREAI
Maryam Erfanian Omidvar; Jill R Murrell; Anna J Prentice; Ingo Helbig; Holger Lerche; Patrick May; Epi25 Collaborative.png){kind=icon}
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SaveTau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W2025-03-051
OAAIQi, Chao; Loevestam, Sofia; Murzin, Alexey G.; Peak-Chew, Sew; Franco, Catarina; Bogdani, Marika; Latimer, Caitlin; Murrell, Jill R.; Cullinane, Patrick W.; Jaunmuktane, Zane; Bird, Thomas D.; Ghetti, Bernardino; Scheres, Sjors H. W.
2025-03-051OAAIQi, Chao; Loevestam, Sofia; Murzin, Alexey G.; Peak-Chew, Sew; Franco, Catarina; Bogdani, Marika; Latimer, Caitlin; Murrell, Jill R.; Cullinane, Patrick W.; Jaunmuktane, Zane; Bird, Thomas D.; Ghetti, Bernardino; Scheres, Sjors H. W.ShareSaveHeterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability2025-01-011Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M.
2025-01-011PREAI
Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M.ShareSavePSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response2024-07-013
OAAIDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic
2024-07-013OAAIDeb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, FredericShareSaveMutation increment K281 in MAPT causes Pick's disease2023-06-238OAAISchweighauser, Manuel; Garringer, Holly J.; Klingstedt, Therese; Nilsson, K. Peter R.; Masuda-Suzukake, Masami; Murrell, Jill R.; Risacher, Shannon L.; Vidal, Ruben; Scheres, Sjors H. W.; Goedert, Michel; Ghetti, Bernardino; Newell, Kathy L.
2023-06-238OAAISchweighauser, Manuel; Garringer, Holly J.; Klingstedt, Therese; Nilsson, K. Peter R.; Masuda-Suzukake, Masami; Murrell, Jill R.; Risacher, Shannon L.; Vidal, Ruben; Scheres, Sjors H. W.; Goedert, Michel; Ghetti, Bernardino; Newell, Kathy L.ShareSaveMonoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions2023-06-016OAAISchonauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C.; Poschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M.; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M.; Munch, Johannes; Heyne, Henrik; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noe, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J.; Neatu, Ruxandra; Guyader, Gwenael Le; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A.; Buchan, Jillian G.; Glissmeyer, Margaret; Popp, Bernt; Bluher, Matthias; Sayer, John A.; Halbritter, Jan
2023-06-016OAAISchonauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C.; Poschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M.; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M.; Munch, Johannes; Heyne, Henrik; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noe, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J.; Neatu, Ruxandra; Guyader, Gwenael Le; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A.; Buchan, Jillian G.; Glissmeyer, Margaret; Popp, Bernt; Bluher, Matthias; Sayer, John A.; Halbritter, JanShareSaveHuman germline heterozygous gain-of-function STAT6 variants cause severe allergic disease2023-03-0841OAAISharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E.
2023-03-0841OAAISharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E.ShareSaveLoss-of-function variants in SRRM2 cause a neurodevelopmental disorderGENETICS IN MEDICINE2022-08-0114OAAICuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin
GENETICS IN MEDICINEIF6.2
2022-08-0114OAAICuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, BenjaminShareSaveExpanding the phenotypic spectrum of ARCN1-related syndromeGENETICS IN MEDICINE2022-06-015OAAIRitter, Alyssa L.; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M.; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amelie; Ohl, Jeanine; Kukolich, Mary K.; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R.; Sullivan, Jennifer A.; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C.; Izumi, Kosuke
GENETICS IN MEDICINEIF6.2
2022-06-015OAAIRitter, Alyssa L.; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M.; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amelie; Ohl, Jeanine; Kukolich, Mary K.; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R.; Sullivan, Jennifer A.; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C.; Izumi, KosukeShareSaveMolecular Diagnostic Outcomes from 700 Cases What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?2022-03-016OAAIMurrell, Jill R.; Nesbitt, Addie May, I; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D.; Dulik, Matthew C.; Conlin, Laura K.; Luo, Minjie; Gibson, Kristin McDonald; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H.; Bedoukian, Emma C.; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M.; Deardorff, Matthew A.; Medne, Livija; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.
2022-03-016OAAIMurrell, Jill R.; Nesbitt, Addie May, I; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D.; Dulik, Matthew C.; Conlin, Laura K.; Luo, Minjie; Gibson, Kristin McDonald; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H.; Bedoukian, Emma C.; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M.; Deardorff, Matthew A.; Medne, Livija; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.ShareSave11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerousBRAIN2021-12-1612OAAIAbrahamson, Eric E.; Kofler, Julia K.; Becker, Carl R.; Price, Julie C.; Newell, Kathy L.; Ghetti, Bernardino; Murrell, Jill R.; McLean, Catriona A.; Lopez, Oscar L.; Mathis, Chester A.; Klunk, William E.; Villemagne, Victor L.; Ikonomovic, Milos D.
BRAINIF11.7
2021-12-1612OAAIAbrahamson, Eric E.; Kofler, Julia K.; Becker, Carl R.; Price, Julie C.; Newell, Kathy L.; Ghetti, Bernardino; Murrell, Jill R.; McLean, Catriona A.; Lopez, Oscar L.; Mathis, Chester A.; Klunk, William E.; Villemagne, Victor L.; Ikonomovic, Milos D.ShareSaveDisruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorGENETICS IN MEDICINE2021-06-0133OAAIHarris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
GENETICS IN MEDICINEIF6.2
2021-06-0133OAAIHarris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.ShareSaveDe Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay2020-07-0134OAAIVissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M.
2020-07-0134OAAIVissers, Lisenka E. L. M.; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L.; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E., V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J.; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G.; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; de Villemeur, Thierry Billette; Nugent, Kimberly; Raymond, F. Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D. Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E.; Murrell, Jill R.; Wood, Kathleen; Cho, Megan T.; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P. M.ShareSaveMN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisBRAIN2019-12-1336OAAIMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T.
BRAINIF11.7
2019-12-1336OAAIMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T.ShareSaveDiffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation2019-06-058OAAIGondim, Dibson D.; Oblak, Adrian; Murrell, Jill R.; Richardson, Rose; Epperson, Francine; Ross, Owen A.; Ghetti, Bernardino
2019-06-058OAAIGondim, Dibson D.; Oblak, Adrian; Murrell, Jill R.; Richardson, Rose; Epperson, Francine; Ross, Owen A.; Ghetti, BernardinoShareSaveAutomated Clinical Exome Reanalysis Reveals Novel Diagnoses2019-01-0171OAAIBaker, Samuel W.; Murrell, Jill R.; Nesbitt, Addie I.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wilkens, Alisha B.; Bhoj, Elizabeth J.; Guan, Qiaoning; Dulik, Matthew C.; Conlin, Laura K.; Abou Tayoun, Ahmad N.; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mandi; Bedoukian, Emma C.; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M.; Deardorff, Matthew A.; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.
2019-01-0171OAAIBaker, Samuel W.; Murrell, Jill R.; Nesbitt, Addie I.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Yu, Zhenming; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wilkens, Alisha B.; Bhoj, Elizabeth J.; Guan, Qiaoning; Dulik, Matthew C.; Conlin, Laura K.; Abou Tayoun, Ahmad N.; Luo, Minjie; Wu, Chao; Cao, Kajia; Sarmady, Mandi; Bedoukian, Emma C.; Tarpinian, Jennifer; Medne, Livija; Skraban, Cara M.; Deardorff, Matthew A.; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.ShareSaveDysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variantBRAIN PATHOLOGY2018-12-2722OAAINewell, Kathy; Paron, Francesca; Mompean, Miguel; Murrell, Jill; Salis, Elisa; Stuani, Cristiana; Pattee, Gary; Romano, Maurizio; Laurents, Douglas; Ghetti, Bernardino; Buratti, Emanuele
BRAIN PATHOLOGYIF6.2
2018-12-2722OAAINewell, Kathy; Paron, Francesca; Mompean, Miguel; Murrell, Jill; Salis, Elisa; Stuani, Cristiana; Pattee, Gary; Romano, Maurizio; Laurents, Douglas; Ghetti, Bernardino; Buratti, EmanueleShareSaveDetection of tau in Gerstmann-Straussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET2018-10-299OAAIRisacher, Shannon L.; Farlow, Martin R.; Bateman, Daniel R.; Epperson, Francine; Tallman, Eileen F.; Richardson, Rose; Murrell, Jill R.; Unverzagt, Frederick W.; Apostolova, Liana G.; Bonnin, Jose M.; Ghetti, Bernardino; Saykin, Andrew J.
2018-10-299OAAIRisacher, Shannon L.; Farlow, Martin R.; Bateman, Daniel R.; Epperson, Francine; Tallman, Eileen F.; Richardson, Rose; Murrell, Jill R.; Unverzagt, Frederick W.; Apostolova, Liana G.; Bonnin, Jose M.; Ghetti, Bernardino; Saykin, Andrew J.ShareSaveRare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's diseaseNATURE GENETICS2017-07-17696OAAISims, Rebecca; van der Lee, Sven J.; Naj, Adam C.; Bellenguez, Celine; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W.; Boland, Anne; Raybould, Rachel; Bis, Joshua C.; Martin, Eden R.; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B.; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R.; Olaso, Robert; Hoffmann, Per; Grove, Megan L.; Vardarajan, Badri N.; Hiltunen, Mikko; Noethen, Markus M.; White, Charles C.; Hamilton-Nelson, Kara L.; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W.; Dulary, Cecile; Herms, Stefan; Smith, Albert V.; Funk, Cory C.; Derbois, Celine; Forstner, Andreas J.; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L.; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A.; Qu, Liming; Sanchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J.; Zhao, Yi; Sanchez Garcia, Florentino; Denning, Nicola; Fornage, Myriam; Malamon, John; Deniz Naranjo, Maria Candida; Majounie, Elisa; Mosley, Thomas H.; Dombroski, Beth; Wallon, David; Lupton, Michelle K.; Dupuis, Josee; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B.; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D.; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H.; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L. Adrienne; Price, Nathan D.; Hannequin, Didier; Frank-Garcia, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S.; Giedraitis, Vilmantas; Hampel, Harald; Garcia, Melissa E.; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K.; Pasquier, Florence; Boccardi, Virginia; Henandez, Isabel; Barber, Robert C.; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M.; Leber, Markus; Chen, Yuning; Albert, Marilyn S.; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S.; Spalletta, Gianfranco; Longstreth, W. T., Jr.; Fairchild, Thomas J.; Bossu, Paola; Lopez, Oscar L.; Frosch, Matthew P.; Sacchinelli, Eleonora; Ghetti, Bernardino; Yang, Qiong; Huebinger, Ryan M.; Jessen, Frank; Li, Shuo; Kamboh, M. Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J.; Corcoran, Chris; Dunstan, Melanie; Braddel, Amy; Thomas, Charlene; Meggy, Alun; Marshall, Rachel; Gerrish, Amy; Chapman, Jade; Aguilar, Miquel; Taylor, Sarah; Hill, Matt; Diez Fairen, Mnica; Hodges, Angela; Vellas, Bruno; Soininen, Hilkka; Kloszewska, Iwona; Daniilidou, Makrina; Uphill, James; Patel, Yogen; Hughes, Joseph T.; Lord, Jenny; Turton, James; Hartmann, Annette M.; Cecchetti, Roberta; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Caltagirone, Carlo; Orfei, Maria Donata; Ciaramella, Antonio; Pichler, Sabrina; Mayhaus, Manuel; Gu, Wei; Lleo, Alberto; Forte, Juan; Blesa, Rafael; Barber, Imelda S.; Brookes, Keeley; Cupidi, Chiara; Maletta, Raffaele Giovanni; Carrell, David; Sorbi, Sandro; Moebus, Susanne; Urbano, Maria; Pilotto, Alberto; Kornhuber, Johannes; Bosco, Paolo; Todd, Stephen; Craig, David; Johnston, Janet; Gill, Michael; Lawlor, Brian; Lynch, Aoibhinn; Fox, Nick C.; Hardy, John; Albin, Roger L.; Apostolova, Liana G.; Arnold, Steven E.; Asthana, Sanjay; Atwood, Craig S.; Baldwin, Clinton T.; Barnes, Lisa L.; Barral, Sandra; Beach, Thomas G.; Becker, James T.; Bigio, Eileen H.; Bird, Thomas D.; Boeve, Bradley F.; Bowen, James D.; Boxer, Adam; Burke, James R.; Burns, Jeffrey M.; Buxbaum, Joseph D.; Cairns, Nigel J.; Cao, Chuanhai; Carlson, Chris S.; Carlsson, Cynthia M.; Carney, Regina M.; Carrasquillo, Minerva M.; Carroll, Steven L.; Diaz, Carolina Ceballos; Chui, Helena C.; Clark, David G.; Cribbs, David H.; Crocco, Elizabeth A.; DeCarli, Charles; Dick, Malcolm; Duara, Ranjan; Evans, Denis A.; Faber, Kelley M.; Fallon, Kenneth B.; Fardo, David W.; Farlow, Martin R.; Ferris, Steven; Foroud, Tatiana M.; Galasko, Douglas R.; Gearing, Marla; Geschwind, Daniel H.; Gilbert, John R.; Graff-Radford, Neill R.; Green, Robert C.; Growdon, John H.; Hamilton, Ronald L.; Harrell, Lindy E.; Honig, Lawrence S.; Huentelman, Matthew J.; Hulette, Christine M.; Hyman, Bradley T.; Jarvik, Gail P.; Abner, Erin; Jin, Lee-Way; Jun, Gyungah; Karydas, Anna; Kaye, Jeffrey A.; Kim, Ronald; Kowall, Neil W.; Kramer, Joel H.; LaFerla, Frank M.; Lah, James J.; Leverenz, James B.; Levey, Allan I.; Li, Ge; Lieberman, Andrew P.; Lunetta, Kathryn L.; Lyketsos, Constantine G.; Marson, Daniel C.; Martiniuk, Frank; Mash, Deborah C.; Masliah, Eliezer; McCormick, Wayne C.; McCurry, Susan M.; McDavid, Andrew N.; Mckee, Ann C.; Mesulam, Marsel; Miller, Bruce L.; Miller, Carol A.; Miller, Joshua W.; Morris, John C.; Murrell, Jill R.; Myers, Amanda J.; O'Bryant, Sid; Pankratz, Vernon S.; Pankratz, Vernon S.; Parisi, Joseph E.; Paulson, Henry L.; Perry, William; Peskind, Elaine; Pierce, Aimee; Poon, Wayne W.; Potter, Huntington; Quinn, Joseph F.; Raj, Ashok; Raskind, Murray; Reisberg, Barry; Reitz, Christiane; Ringman, John M.; Roberson, Erik D.; Rogaeva, Ekaterina; Rosen, Howard J.; Rosenberg, Roger N.; Sager, Mark A.; Saykin, Andrew J.; Schneider, Julie A.; Schneider, Lon S.; Seeley, William W.; Smith, Amanda G.; Sonnen, Joshua A.; Spina, Salvatore; Stern, Robert A.; Swerdlow, Russell H.; Tanzi, Rudolph E.; Thornton-Wells, Tricia A.; Trojanowski, John Q.; Troncoso, Juan C.; Van Deerlin, Vivianna M.; Van Eldik, Linda J.; Vinters, Harry V.; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A.; Wilhelmsen, Kirk C.; Williamson, Jennifer; Woltjer, Randall L.; Wright, Clinton B.; Yu, Chang-En; Yu, Lei; Garzia, Fabienne; Golamaully, Feroze; Septier, Gislain; Engelborghs, Sebastien; Vandenberghe, Rik; De Deyn, Peter P.; Munoz Fernadez, Carmen; Aladro Benito, Yoland; Thonberg, Hakan; Forsell, Charlotte; Lilius, Lena; Kinhult-Stahlbom, Anne; Kilander, Lena; Brundin, RoseMarie; Concari, Letizia; Helisalmi, Seppo; Koivisto, Anne Maria; Haapasalo, Annakaisa; Dermecourt, Vincent; Fievet, Nathalie; Hanon, Olivier; Dufouil, Carole; Brice, Alexis; Ritchie, Karen; Dubois, Bruno; Himali, Jayanadra J.; Keene, C. Dirk; Tschanz, Joann; Fitzpatrick, Annette L.; Kukull, Walter A.; Norton, Maria; Aspelund, Thor; Larson, Eric B.; Munger, Ron; Rotter, Jerome I.; Lipton, Richard B.; Bullido, Maria J.; Hofman, Albert; Montine, Thomas J.; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C.; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M.; Gallo, Maura; O'Donnell, Christopher J.; Reisch, Joan S.; Bruni, Amalia Cecilia; Royall, Donald R.; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W.; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R.; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C.; Bras, Jose; Guerreiro, Rita; Al-Chalabi, Ammar; Shaw, Christopher E.; Collinge, John; Mann, David; Tsolaki, Magda; Clarimon, Jordi; Sussams, Rebecca; Lovestone, Simon; O'Donovan, Michael C.; Owen, Michael J.; Behrens, Timothy W.; Mead, Simon; Goate, Alison M.; Uitterlinden, Andre G.; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A.; Powell, John; Golde, Todd E.; Graff, Caroline; De Jager, Philip L.; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M.; Passmore, Peter; Younkin, Steven G.; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W.; Dartigues, Jean-Francois; DeStefano, Anita L.; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John Keoni; Farrer, Lindsay A.; Van Broeckhoven, Christine; Ikram, M. Arfan; Jones, Lesley; Haines, Jonathan L.; Tzourio, Christophe; Launer, Lenore J.; Escott-Price, Valentina; Mayeux-, Richard; Deleuze, Jean-Francois; Amin, Najaf; Holmans, Peter A.; Pericak-Vance, Margaret A.; Amouyel, Philippe; van Duijn, Cornelia M.; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D.
NATURE GENETICSIF31.8
2017-07-17696OAAISims, Rebecca; van der Lee, Sven J.; Naj, Adam C.; Bellenguez, Celine; Badarinarayan, Nandini; Jakobsdottir, Johanna; Kunkle, Brian W.; Boland, Anne; Raybould, Rachel; Bis, Joshua C.; Martin, Eden R.; Grenier-Boley, Benjamin; Heilmann-Heimbach, Stefanie; Chouraki, Vincent; Kuzma, Amanda B.; Sleegers, Kristel; Vronskaya, Maria; Ruiz, Agustin; Graham, Robert R.; Olaso, Robert; Hoffmann, Per; Grove, Megan L.; Vardarajan, Badri N.; Hiltunen, Mikko; Noethen, Markus M.; White, Charles C.; Hamilton-Nelson, Kara L.; Epelbaum, Jacques; Maier, Wolfgang; Choi, Seung-Hoan; Beecham, Gary W.; Dulary, Cecile; Herms, Stefan; Smith, Albert V.; Funk, Cory C.; Derbois, Celine; Forstner, Andreas J.; Ahmad, Shahzad; Li, Hongdong; Bacq, Delphine; Harold, Denise; Satizabal, Claudia L.; Valladares, Otto; Squassina, Alessio; Thomas, Rhodri; Brody, Jennifer A.; Qu, Liming; Sanchez-Juan, Pascual; Morgan, Taniesha; Wolters, Frank J.; Zhao, Yi; Sanchez Garcia, Florentino; Denning, Nicola; Fornage, Myriam; Malamon, John; Deniz Naranjo, Maria Candida; Majounie, Elisa; Mosley, Thomas H.; Dombroski, Beth; Wallon, David; Lupton, Michelle K.; Dupuis, Josee; Whitehead, Patrice; Fratiglioni, Laura; Medway, Christopher; Jian, Xueqiu; Mukherjee, Shubhabrata; Keller, Lina; Brown, Kristelle; Lin, Honghuang; Cantwell, Laura B.; Panza, Francesco; McGuinness, Bernadette; Moreno-Grau, Sonia; Burgess, Jeremy D.; Solfrizzi, Vincenzo; Proitsi, Petra; Adams, Hieab H.; Allen, Mariet; Seripa, Davide; Pastor, Pau; Cupples, L. Adrienne; Price, Nathan D.; Hannequin, Didier; Frank-Garcia, Ana; Levy, Daniel; Chakrabarty, Paramita; Caffarra, Paolo; Giegling, Ina; Beiser, Alexa S.; Giedraitis, Vilmantas; Hampel, Harald; Garcia, Melissa E.; Wang, Xue; Lannfelt, Lars; Mecocci, Patrizia; Eiriksdottir, Gudny; Crane, Paul K.; Pasquier, Florence; Boccardi, Virginia; Henandez, Isabel; Barber, Robert C.; Scherer, Martin; Tarraga, Lluis; Adams, Perrie M.; Leber, Markus; Chen, Yuning; Albert, Marilyn S.; Riedel-Heller, Steffi; Emilsson, Valur; Beekly, Duane; Braae, Anne; Schmidt, Reinhold; Blacker, Deborah; Masullo, Carlo; Schmidt, Helena; Doody, Rachelle S.; Spalletta, Gianfranco; Longstreth, W. T., Jr.; Fairchild, Thomas J.; Bossu, Paola; Lopez, Oscar L.; Frosch, Matthew P.; Sacchinelli, Eleonora; Ghetti, Bernardino; Yang, Qiong; Huebinger, Ryan M.; Jessen, Frank; Li, Shuo; Kamboh, M. Ilyas; Morris, John; Sotolongo-Grau, Oscar; Katz, Mindy J.; Corcoran, Chris; Dunstan, Melanie; Braddel, Amy; Thomas, Charlene; Meggy, Alun; Marshall, Rachel; Gerrish, Amy; Chapman, Jade; Aguilar, Miquel; Taylor, Sarah; Hill, Matt; Diez Fairen, Mnica; Hodges, Angela; Vellas, Bruno; Soininen, Hilkka; Kloszewska, Iwona; Daniilidou, Makrina; Uphill, James; Patel, Yogen; Hughes, Joseph T.; Lord, Jenny; Turton, James; Hartmann, Annette M.; Cecchetti, Roberta; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Caltagirone, Carlo; Orfei, Maria Donata; Ciaramella, Antonio; Pichler, Sabrina; Mayhaus, Manuel; Gu, Wei; Lleo, Alberto; Forte, Juan; Blesa, Rafael; Barber, Imelda S.; Brookes, Keeley; Cupidi, Chiara; Maletta, Raffaele Giovanni; Carrell, David; Sorbi, Sandro; Moebus, Susanne; Urbano, Maria; Pilotto, Alberto; Kornhuber, Johannes; Bosco, Paolo; Todd, Stephen; Craig, David; Johnston, Janet; Gill, Michael; Lawlor, Brian; Lynch, Aoibhinn; Fox, Nick C.; Hardy, John; Albin, Roger L.; Apostolova, Liana G.; Arnold, Steven E.; Asthana, Sanjay; Atwood, Craig S.; Baldwin, Clinton T.; Barnes, Lisa L.; Barral, Sandra; Beach, Thomas G.; Becker, James T.; Bigio, Eileen H.; Bird, Thomas D.; Boeve, Bradley F.; Bowen, James D.; Boxer, Adam; Burke, James R.; Burns, Jeffrey M.; Buxbaum, Joseph D.; Cairns, Nigel J.; Cao, Chuanhai; Carlson, Chris S.; Carlsson, Cynthia M.; Carney, Regina M.; Carrasquillo, Minerva M.; Carroll, Steven L.; Diaz, Carolina Ceballos; Chui, Helena C.; Clark, David G.; Cribbs, David H.; Crocco, Elizabeth A.; DeCarli, Charles; Dick, Malcolm; Duara, Ranjan; Evans, Denis A.; Faber, Kelley M.; Fallon, Kenneth B.; Fardo, David W.; Farlow, Martin R.; Ferris, Steven; Foroud, Tatiana M.; Galasko, Douglas R.; Gearing, Marla; Geschwind, Daniel H.; Gilbert, John R.; Graff-Radford, Neill R.; Green, Robert C.; Growdon, John H.; Hamilton, Ronald L.; Harrell, Lindy E.; Honig, Lawrence S.; Huentelman, Matthew J.; Hulette, Christine M.; Hyman, Bradley T.; Jarvik, Gail P.; Abner, Erin; Jin, Lee-Way; Jun, Gyungah; Karydas, Anna; Kaye, Jeffrey A.; Kim, Ronald; Kowall, Neil W.; Kramer, Joel H.; LaFerla, Frank M.; Lah, James J.; Leverenz, James B.; Levey, Allan I.; Li, Ge; Lieberman, Andrew P.; Lunetta, Kathryn L.; Lyketsos, Constantine G.; Marson, Daniel C.; Martiniuk, Frank; Mash, Deborah C.; Masliah, Eliezer; McCormick, Wayne C.; McCurry, Susan M.; McDavid, Andrew N.; Mckee, Ann C.; Mesulam, Marsel; Miller, Bruce L.; Miller, Carol A.; Miller, Joshua W.; Morris, John C.; Murrell, Jill R.; Myers, Amanda J.; O'Bryant, Sid; Pankratz, Vernon S.; Pankratz, Vernon S.; Parisi, Joseph E.; Paulson, Henry L.; Perry, William; Peskind, Elaine; Pierce, Aimee; Poon, Wayne W.; Potter, Huntington; Quinn, Joseph F.; Raj, Ashok; Raskind, Murray; Reisberg, Barry; Reitz, Christiane; Ringman, John M.; Roberson, Erik D.; Rogaeva, Ekaterina; Rosen, Howard J.; Rosenberg, Roger N.; Sager, Mark A.; Saykin, Andrew J.; Schneider, Julie A.; Schneider, Lon S.; Seeley, William W.; Smith, Amanda G.; Sonnen, Joshua A.; Spina, Salvatore; Stern, Robert A.; Swerdlow, Russell H.; Tanzi, Rudolph E.; Thornton-Wells, Tricia A.; Trojanowski, John Q.; Troncoso, Juan C.; Van Deerlin, Vivianna M.; Van Eldik, Linda J.; Vinters, Harry V.; Vonsattel, Jean Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A.; Wilhelmsen, Kirk C.; Williamson, Jennifer; Woltjer, Randall L.; Wright, Clinton B.; Yu, Chang-En; Yu, Lei; Garzia, Fabienne; Golamaully, Feroze; Septier, Gislain; Engelborghs, Sebastien; Vandenberghe, Rik; De Deyn, Peter P.; Munoz Fernadez, Carmen; Aladro Benito, Yoland; Thonberg, Hakan; Forsell, Charlotte; Lilius, Lena; Kinhult-Stahlbom, Anne; Kilander, Lena; Brundin, RoseMarie; Concari, Letizia; Helisalmi, Seppo; Koivisto, Anne Maria; Haapasalo, Annakaisa; Dermecourt, Vincent; Fievet, Nathalie; Hanon, Olivier; Dufouil, Carole; Brice, Alexis; Ritchie, Karen; Dubois, Bruno; Himali, Jayanadra J.; Keene, C. Dirk; Tschanz, Joann; Fitzpatrick, Annette L.; Kukull, Walter A.; Norton, Maria; Aspelund, Thor; Larson, Eric B.; Munger, Ron; Rotter, Jerome I.; Lipton, Richard B.; Bullido, Maria J.; Hofman, Albert; Montine, Thomas J.; Coto, Eliecer; Boerwinkle, Eric; Petersen, Ronald C.; Alvarez, Victoria; Rivadeneira, Fernando; Reiman, Eric M.; Gallo, Maura; O'Donnell, Christopher J.; Reisch, Joan S.; Bruni, Amalia Cecilia; Royall, Donald R.; Dichgans, Martin; Sano, Mary; Galimberti, Daniela; St George-Hyslop, Peter; Scarpini, Elio; Tsuang, Debby W.; Mancuso, Michelangelo; Bonuccelli, Ubaldo; Winslow, Ashley R.; Daniele, Antonio; Wu, Chuang-Kuo; Peters, Oliver; Nacmias, Benedetta; Riemenschneider, Matthias; Heun, Reinhard; Brayne, Carol; Rubinsztein, David C.; Bras, Jose; Guerreiro, Rita; Al-Chalabi, Ammar; Shaw, Christopher E.; Collinge, John; Mann, David; Tsolaki, Magda; Clarimon, Jordi; Sussams, Rebecca; Lovestone, Simon; O'Donovan, Michael C.; Owen, Michael J.; Behrens, Timothy W.; Mead, Simon; Goate, Alison M.; Uitterlinden, Andre G.; Holmes, Clive; Cruchaga, Carlos; Ingelsson, Martin; Bennett, David A.; Powell, John; Golde, Todd E.; Graff, Caroline; De Jager, Philip L.; Morgan, Kevin; Ertekin-Taner, Nilufer; Combarros, Onofre; Psaty, Bruce M.; Passmore, Peter; Younkin, Steven G.; Berr, Claudine; Gudnason, Vilmundur; Rujescu, Dan; Dickson, Dennis W.; Dartigues, Jean-Francois; DeStefano, Anita L.; Ortega-Cubero, Sara; Hakonarson, Hakon; Campion, Dominique; Boada, Merce; Kauwe, John Keoni; Farrer, Lindsay A.; Van Broeckhoven, Christine; Ikram, M. Arfan; Jones, Lesley; Haines, Jonathan L.; Tzourio, Christophe; Launer, Lenore J.; Escott-Price, Valentina; Mayeux-, Richard; Deleuze, Jean-Francois; Amin, Najaf; Holmans, Peter A.; Pericak-Vance, Margaret A.; Amouyel, Philippe; van Duijn, Cornelia M.; Ramirez, Alfredo; Wang, Li-San; Lambert, Jean-Charles; Seshadri, Sudha; Williams, Julie; Schellenberg, Gerard D.ShareSaveDevelopment and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases2017-03-2119OAAISantani, Avni; Murrell, Jill; Funke, Birgit; Yu, Zhenming; Hegde, Madhuri; Mao, Rong; Ferreira-Gonzalez, Andrea; Voelkerding, Karl V.; Weck, Karen E.
2017-03-2119OAAISantani, Avni; Murrell, Jill; Funke, Birgit; Yu, Zhenming; Hegde, Madhuri; Mao, Rong; Ferreira-Gonzalez, Andrea; Voelkerding, Karl V.; Weck, Karen E.ShareSaveResearch Directions
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