학술논문
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'학술논문'
에서 검색결과 233건 | 목록
1~20
Academic Journal
Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J
Am J Hum Genet
Academic Journal
Tran, Alyssa A.; Tarakad, Arjun; Balasubramanyam, Ashok; Lee, Brendan H.; Bacino, Carlos A.; Scott, Daryl A.; Seto, Elaine; Clark, Gary D.; Dai, Hongzheng; Chao, Hsiao-Tuan; Chinn, Ivan; Orengo, James P.; Posey, Jennifer E.; Rosenfeld, Jill A.; Worley, Kim; Burrage, Lindsay C.; Emrick, Lisa T.; Potocki, Lorraine; Hubshman, Monika Weisz; Lewis, Richard A.; Marom, Ronit; Lalani, Seema R.; Ketkar, Shamika; Vogel, Tiphanie P.; Craigen, William J.; Sninsky, Jared; Blieden, Lauren; Nagamani, Sandesh; Bellen, Hugo J.; Wangler, Michael F.; Kanca, Oguz; Yamamoto, Shinya; Eng, Christine M.; Ward, Patricia A.; Liu, Pengfei; Vanderver, Adeline; Skraban, Cara; Behrens, Edward; Kilich, Gonench; Sullivan, Kathleen; Hassey, Kelly; Rajagopalan, Ramakrishnan; Ganetzky, Rebecca; Cuddapah, Vishnu; Raper, Anna; Rader, Daniel J.; Sirugo, Giorgio; Jobanputra, Vaidehi; McConkie-Rosell, Allyn; Schoch, Kelly; Mikati, Mohamad; Walley, Nicole M.; Spillmann, Rebecca C.; Shashi, Vandana; Beggs, Alan H.; MacRae, Calum A.; Sweetser, David A.; Rao, Deepak A.; Silverman, Edwin K.; Fieg, Elizabeth L.; High, Frances; Berry, Gerard T.; Holm, Ingrid A.; Pallais, J. Carl; Stoler, Joan M.; Loscalzo, Joseph; Rodan, Lance H.; Cobban, Laurel A.; Briere, Lauren C.; Coggins, Matthew; Walker, Melissa; Maas, Richard L.; Korrick, Susan; Douglas, Jessica; Esteves, Cecilia; Glanton, Emily; Kohane, Isaac S.; LeBlanc, Kimberly; Mahoney, Rachel; Sunyaev, Shamil R.; Kobren, Shilpa N.; Graham, Brett H.; Conboy, Erin; Vetrini, Francesco; Treat, Kayla M.; Liaqat, Khurram; Mantcheva, Lili; Ware, Stephanie M.; Mitchell, Breanna; Lanpher, Brendan C.; Oglesbee, Devin; Klee, Eric; Pinto e Vairo, Filippo; Lanza, Ian R.; Darr, Kahlen; Mulvihill, Lindsay; Schimmenti, Lisa; Tan, Queenie; Dasari, Surendra; Elkadri, Abdul; Bordini, Brett; Basel, Donald; Verbsky, James; McCarrier, Julie; Muriello, Michael; Zimmermann, Michael; Rebelo, Adriana; Smith, Carson A.; Barbouth, Deborah; Bademci, Guney; Gonzalez, Joanna M.; Latchman, Kumarie; Peart, LéShon; Tekin, Mustafa; Borja, Nicholas; Zuchner, Stephan; Bivona, Stephanie; Thorson, Willa; Taylor, Herman; Quarells, Rakale C.; Iverson, Ayuko; Gelb, Bruce; Cunningham-Rundles, Charlotte; Gayle, Eric; Jen, Joanna; Bier, Louise; Barbosa, Mafalda; Balwani, Manisha; Shadrina, Mariya; Evard, Rachel; Shuman, Saskia; Shin, Susan; Gropman, Andrea; Pusey Swerdzewski, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Novacic, Donna; Macnamara, Ellen F.; Mulvihill, John J.; Acosta, Maria T.; D'Souza, Precilla; Maduro, Valerie V.; Afzali, Ben; Solomon, Ben; Tifft, Cynthia J.; Adams, David R.; Burke, Elizabeth A.; Rossignol, Francis; Wood, Heidi; Fu, Jiayu; Davis, Joie; Petcharet, Leoyklang; Wolfe, Lynne A.; Delgado, Margaret; Morimoto, Marie; Sabaii, Marla; Malicdan, MayChristine V.; Hanchard, Neil; Jean-Marie, Orpa; Introne, Wendy; Gahl, William A.; Huang, Yan; Stergachis, Andrew; Miller, Danny; Rosenthal, Elisabeth; Blue, Elizabeth; Balton, Elsa; Shelkowitz, Emily; Allenspach, Eric; Hisama, Fuki M.; Jarvik, Gail P.; Mirzaa, Ghayda; Glass, Ian; Leppig, Kathleen A.; Dipple, Katrina; Wener, Mark; Horike-Pyne, Martha; Bamshad, Michael; Byers, Peter; Kumar, Runjun; Perlman, Seth; Chanprasert, Sirisak; Sybert, Virginia; Raskind, Wendy; Dargie, Nitsuh K.; Chan, Chun-Hung; Bustos Velasq, Dr. Francisco; Ward, Isum; Schend, Jason; Morgan, Jennifer; Bell, Megan; Leitheiser, Miranda; Saifeddine, Mohamad; Berger, Paul; Li, Rachel; Beagle, Taylor; Miller, Alexander; Anguiano, Beatriz; Martin, Beth A.; Tucker, Brianna; Reuter, Chloe M.; Bonner, Devon; Kravets, Elijah; Mendez, Hector Rodrigo; Tabor, Holly K.; Sampson, Jacinda B.; Hom, Jason; Kohler, Jennefer N.; Schymick, Jennifer; Gorzynski, John E.; Bernstein, Jonathan A.; Smith, Kevin S.; Keehan, Laura; Wiel, Laurens; Wheeler, Matthew T.; Halley, Meghan C.; Levanto, Mia; Goddard, Page C.; Fisher, Paul G.; Ungar, Rachel A.; Alvarez, Raquel L.; Emami, Sara; Marwaha, Shruti; Montgomery, Stephen B.; Bachir, Suha; Jensen, Tanner D.; Maurer, Taylor; Coakley, Terra R.; Ashley, Euan A.; Al-Beshri, Ali; Hurst, Anna; Wilk, Brandon M.; Korf, Bruce; Worthey, Elizabeth A.; Callaway, Kaitlin; Rodriguez, Martin; Skelton, Tammi; Mamidi, Tarun KK.; Crouse, Andrew B.; Whitlock, Jordan; Nakano-Okuno, Mariko; Might, Matthew; Byrd, William E.; La Spada, Albert R.; Xiao, Changrui; Chao, Elizabeth C.; Vilain, Eric; Abdenur, Jose; Blanco, Kirsten; Steenari, Maija-Rikka; Barrick, Rebekah; Chang, Richard; Attaripour, Sanaz; Sandmeyer, Suzanne; Mozaffar, Tahseen; Huang, Alden; Vargas, Andres; Russell, Bianca E.; Fogel, Brent L.; Dell'Angelica, Esteban C.; Carvalho, George; Martínez-Agosto, Julian A.; Abi Farraj, Layal F.; Butte, Manish J.; Martin, Martin G.; Dorrani, Naghmeh; Parker, Neil H.; Corona, Rosario I.; Nelson, Stanley F.; Karasozen, Yigit; Quinlan, Aaron; Ward, Alistair; Andrews, Ashley; Welt, Corrine K.; Viskochil, Dave; Baldwin, Erin E.; Carey, John; Alvey, Justin; Pace, Laura; Botto, Lorenzo; Longo, Nicola; Moretti, Paolo; Overbury, Rebecca; Butterfield, Russell; Boyden, Steven; Nicholas, Thomas J.; Velinder, Matt; Marth, Gabor; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Corner, Brian; Phillips, John A., III; Ezell, Kimberly; Rives, Lynette; Hamid, Rizwan; Neumann, Serena; McMinn, Ashley; Cogan, Joy D.; Cassini, Thomas; Paul, Alex; Kiley, Dana; Wegner, Daniel; McRoy, Erin; Wambach, Jennifer; Sisco, Kathy; Dickson, Patricia; Cole, F. Sessions; Baldridge, Dustin; Shin, Jimann; Solnica-Krezel, Lilianna; Pak, Stephen C.; Schedl, Timothy; Bale, Allen; Oladele, Carol; Hendry, Caroline; Wang, Emily; Xu, Hua; Zhang, Hui; Jeffries, Lauren; Ortuño Romero, María José; Gerstein, Mark; Spencer-Manzon, Michele; Lek, Monkol; Derar, Nada; Kaufman, Odelya; Mane, Shrikant; Serrano, Teodoro Jerves; Vasiliou, Vasilis; Halstead, Winston; Jiang, Yong-Hui; Keehan, Laura A. ; Ono-Minagi, Hitomi ; Hadhud, Mohamad ; Rips, Jonathan ; Hinds, Daniel M. ; Fischer, Anthony J. ; Bartlett, Jennifer A. ; McCray, Paul B. ; Qawasmi, Nada ; Nathan, Nadia ; Louvrier, Camille ; Desroziers, Tifenn ; Damme, Markus ; Griese, Matthias ; Wegner, Daniel J. ; Wambach, Jennifer A. ; Burbelo, Peter D. ; Bonner, Devon E. ; Chiorini, John A. ; Breuer, Oded ; Milla, Carlos
In Genetics in Medicine April 2026 28(4)
Academic Journal
Jiarna R. Zerella; Claire C. Homan; Peer Arts; Xuzhu Lin; Sam J. Spinelli; Parvathy Venugopal; Milena Babic; Peter J. Brautigan; Lynda Truong; Luis Arriola-Martinez; Sarah Moore; Rachel Hollins; Wendy T. Parker; Hung Nguyen; Karin S. Kassahn; Susan Branford; Simone Feurstein; Lise Larcher; Flore Sicre de Fontbrune; Serwet Demirdas; Sonja de Munnik; Hélène Antoine-Poirel; Benedicte Brichard; Sahar Mansour; Kristiana Gordon; Marcin W. Wlodarski; Ashwin Koppayi; Sara Dobbins; Pim G. N. J. Mutsaers; Kim E. Nichols; Ninad Oak; Desiree DeMille; Rong Mao; Ali Crawford; Julie McCarrier; Donald Basel; Josue Flores-Daboub; Michael W. Drazer; Kerry Phillips; Nicola K. Poplawski; Graeme M. Birdsey; Daniela Pirri; Pia Ostergaard; Annet Simons; Lucy A. Godley; David M. Ross; Devendra K. Hiwase; Jean Soulier; Anna L. Brown; Catherine L. Carmichael; Hamish S. Scott; Christopher N. Hahn
Blood
Blood, 144, 17, pp. 1765-1780
Blood, Vol. 144, no.17, p. 1765-1780 (2024)
Blood, 144, 17, pp. 1765-1780
Blood, Vol. 144, no.17, p. 1765-1780 (2024)
Academic Journal
Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H.; La Spada, Albert R.; Huang, Alden; Paul, Alex; Miller, Alexander; Al-Beshri, Ali; Ward, Alistair; Bale, Allen; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Pusey Swerdzewski, Barbara N.; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Russell, Bianca E.; Wilk, Brandon M.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Bordini, Brett; Graham, Brett H.; Corner, Brian; Tucker, Brianna; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Oladele, Carol; Hendry, Caroline; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Eng, Christine M.; Chan, Chun-Hung; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; Bustos velasq, Francisco; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A.; Burke, Elizabeth A.; Blue, Elizabeth; Chao, Elizabeth C.; Fieg, Elizabeth L.; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J.; Zhang, Hui; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Ward, Isum; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Morgan, Jennifer; Schymick, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Gorzynski, John E.; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Keehan, Laura; Pace, Laura; Cobban, Laurel A.; Blieden, Lauren; Briere, Lauren C.; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Steenari, Maija-Rikka; Butte, Manish J.; Delgado, Margaret; Romero, María José Ortuño; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Malicdan, MayChristine V.; Bell, Megan; Halley, Meghan C.; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F.; Muriello, Michael; Zimmermann, Michael; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Weisz Hubshman, Monika; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Dargie, Nitsuh K.; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Berger, Paul; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Li, Rachel; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Lalani, Seema R.; Neumann, Serena; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Mane, Shrikant; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Montgomery, Stephen B.; Pak, Stephen; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D.; Mamidi, Tarun KK.; Beagle, Taylor; Maurer, Taylor; Serrano, Teodoro Jerves; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Halstead, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Fazal, Sarah ; Dashnow, Harriet ; Dohrn, Maike F. ; Raposo, Jacquelyn ; Hiatt, Laurel ; Danzi, Matt C. ; Xu, Isaac R.L. ; Usdin, Karen ; Hayward, Bruce ; Kobren, Shilpa Nadimpalli ; Quinlan, Aaron R.
In Genetics in Medicine August 2025 27(8)
Academic Journal
Malhotra, Alka ; Thorpe, Erin ; Coffey, Alison J. ; Rajkumar, Revathi ; Adjeman, Josephine ; Naa Adjeley Adjetey, Naomi Dianne ; Aglobitse, Sharron ; Allotey, Felix ; Arsov, Todor ; Ashong, Joyce ; Badoe, Ebenezer Vincent ; Basel, Donald ; Brew, Yvonne ; Brown, Chester ; Bosfield, Kerri ; Casas, Kari ; Cornejo-Olivas, Mario ; Davis-Keppen, Laura ; Freed, Abbey ; Gibson, Kate ; Jayakar, Parul ; Jones, Marilyn C. ; Kawome, Martina ; Lumaka, Aimé ; Maier, Ursula ; Makay, Prince ; Manassero, Gioconda ; Marbell-Wilson, Marilyn ; Marcuccilli, Charles ; Masser-Frye, Diane ; McCarrier, Julie ; Mills, Hannah-Sharon ; Montoya, Jeny Balazar ; Mubungu, Gerrye ; Ngole, Mamy ; Perez, Jorge ; Pivnick, Eniko ; Duenas-Roque, Milagros M. ; Pena Salguero, Hildegard ; Serize, Arturo ; Shinawi, Marwan ; Sirchia, Fabio ; Soler-Alfonso, Claudia ; Taylor, Alan ; Thompson, Lauren ; Vance, Gail ; Vanderver, Adeline ; Vaux, Keith ; Velasco, Danita ; Wiafe, Samuel ; Taft, Ryan J. ; Perry, Denise L. ; Kesari, Akanchha
In Human Genetics and Genomics Advances 10 July 2025 6(3)
Academic Journal
Journal of Thoracic Oncology. 20:S810-S811
Academic Journal
James S. McGinley; Rikki Mangrum; Maya T. Gerstein; Kelly P. McCarrier; Carrie R. Houts; Dawn C. Buse; Alexandra L. Bryant; R. J. Wirth; Richard B. Lipton
Headache
Academic Journal
Isabelle B. Cooperstein; Shruti Marwaha; Alistair Ward; Shilpa N. Kobren; Jennefer N. Carter; Aaron Quinlan; Abdul Elkadri; Adeline Vanderver; Adriana Rebelo; Alan H Beggs; Albert R La Spada; Alden Huang; Alex Paul; Alexander Miller; Allen Bale; Allyn McConkie-Rosell; Alyson Krokosky; Alyssa A Tran; Andrea Gropman; Andres Vargas; Andrew B Crouse; Andrew Stergachis; Anna Hurst; Anna Raper; Anne Slavotinek; Arian Nouraee; Arjun Tarakad; Ashley Andrews; Ashley McMinn; Ashok Balasubramanyam; Ayuko Iverson; Barbara N Pusey Swerdzewski; Beatriz Anguiano; Ben Afzali; Ben Solomon; Beth A Martin; Bianca E Russell; Brandon M Wilk; Breanna Mitchell; Brendan C Lanpher; Brendan H Lee; Brent L Fogel; Brett Bordini; Brett H Graham; Brianna Tucker; Bruce Gelb; Bruce Korf; Calum A MacRae; Camilo Toro; Cara Skraban; Carlos A Bacino; Carlos A Pardo-Villamizar; Carlos Prada; Carol Oladele; Caroline Hendry; Carson A Smith; Cathy Shyr; Cecilia Esteves; Changrui Xiao; Charlotte Cunningham-Rundles; Chloe M Reuter; Christine M Eng; Christopher Mayhew; Chun-Hung Chan; Colleen E Wahl; Corrine K Welt; Cynthia J Tifft; Dana Kiley; Dana Sayer; Daniel J Rader; Daniel Wegner; Danny E Miller; Daryl A Scott; Dave Viskochil; David A Sweetser; David R Adams; Deborah Barbouth; Deepak A Rao; Devin Oglesbee; Devon Bonner; Donald Basel; Donna Novacic; Francisco Bustos velasq; Dustin Baldridge; Edward Behrens; Edwin K Silverman; Elaine Seto; Elijah Kravets; Elisabeth Rosenthal; Elizabeth A Worthey; Elizabeth A Burke; Elizabeth Blue; Elizabeth C Chao; Elizabeth L Fieg; Elizabeth Wohler; Ellen F Macnamara; Elsa Balton; Emily Glanton; Emily Shelkowitz; Emily Wang; Eneida Mendonca; Eric Allenspach; Eric Gamazon; Eric Gayle; Eric Klee; Eric Vilain; Erica Davis; Erin Conboy; Erin E Baldwin; Erin McRoy; Esteban C Dell’Angelica; Euan A Ashley; F Sessions Cole; Filippo Pinto E Vairo; Frances High; Francesco Vetrini; Francis Rossignol; Fuki M Hisama; Gabor Marth; Gail P Jarvik; Gary D Clark; George Carvalho; Gerard T Berry; Ghayda Mirzaa; Giorgio Sirugo; Gonench Kilich; Guney Bademci; Hector Rodrigo Mendez; Heidi Wood; Herman Taylor; Holly K Tabor; Hongzheng Dai; Hsiao-Tuan Chao; Hua Xu; Hugo J Bellen; Hui Zhang; Ian Glass; Ian R Lanza; Ingrid A Holm; Isaac S Kohane; Isum Ward; Ivan Chinn; J Carl Pallais; Jacinda B Sampson; James P Orengo; James Verbsky; Jared Sninsky; Jason Hom; Jason Schend; Jennefer N Kohler; Jennifer Morgan; Jennifer Schymick; Jennifer Tousseau; Jennifer Wambach; Jessica Douglas; Jiayu Fu; Jill A Rosenfeld; Jimann Shin; Joan M Stoler; Joanna Jen; Joanna M Gonzalez; John A Phillips; John Carey; John E Gorzynski; John J Mulvihill; Joie Davis; Jonathan A Bernstein; Jordan Whitlock; Jose Abdenur; Joseph Loscalzo; Joy D Cogan; Julian A Martínez-Agosto; Julie Hoover-Fong; Julie McCarrier; Justin Alvey; Kahlen Darr; Kai Lee Yap; Kaitlin Callaway; Kathleen A Leppig; Kathleen Page; Kathleen Sullivan; Kathy Sisco; Katrina Dipple; Kayla M Treat; Kelly Hassey; Kelly Regan-Fendt; Kelly Schoch; Kevin S Smith; Khurram Liaqat; Kim Worley; Kimberly Ezell; Kimberly LeBlanc; Kirsten Blanco; 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Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan
Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j .ajhg.2024.01.007
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Rikki Mangrum; Maya T. Gerstein; Calvin J. Hall; Dawn C. Buse; Carrie R. Houts; James S. McGinley; Kelly P. McCarrier; Richard B. Lipton; R. J. Wirth
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bioRxiv
Nat Commun
Nat Commun
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Dawn C, Buse; Maya T, Gerstein; Carrie R, Houts; James S, McGinley; Alyssa A, Uzumcu; Kelly P, McCarrier; Alexis, Cooke; Nancy M, Touba; Tracy K, Nishida; R J, Wirth; Richard B, Lipton
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Gastroenterology. 162:26-31
Academic Journal
Ryan J. Taft; Erin Thorpe; Taylor Williams; Chad A. Shaw; Evgenii Chekalin; Julia Ortega; Keisha Robinson; Jason Button; Marilyn C. Jones; Miguel del Campo; Donald Basel; Julie McCarrier; Laura Davis Keppen; Erin Royer; Romina Foster-Bonds; Milagros Dueñas‐Roque; Nora Urraca; Kerri Bosfield; Chester Brown; Holly Lydigsen; Henry J. Mroczkowski; Jewell C. Ward; Fabio Sirchia; Elisa Giorgio; Keith K. Vaux; Hildegard Peña Salguero; Aimé Lumaka Zola; Gerrye Mubungu; Prince Makay; Mamy Ngole; Prosper Tshilobo Lukusa; Adeline Vanderver; Kayla Muirhead; Omar Sherbini; Melissa Lah; Katelynn Anderson; Jeny Bazalar‐Montoya; Richard Rodríguez; Mario Cornejo Olivas; Karina Milla‐Neyra; Marwan Shinawi; Pilar L. Magoulas; Duncan Henry; Kate Gibson; Samuel Wiafe; Parul Jayakar; Daria Salyakina; Diane Masser‐Frye; Arturo Serize; Jorge Enrique Pérez; Alan Taylor; Shruti Shenbagam; Ahmad Abou Tayoun; Alka Malhotra; Maren Bennett; Vani Rajan; James Avecilla; Andrew Warren; Max Arseneault; Tasha Kalista; Ali Crawford; Subramanian S. Ajay; Denise L. Perry; John W. Belmont
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Parenti I; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hesters A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Duffy L; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Kanber D; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Steenpaß L; Human and Animal Cell Lines, Leibniz-Institute DSMZ-German Collection of Microorganisms and Cell Cultures GmbH, Inhoffenstraße 7B, 38124, Braunschweig, Germany.; Zoological Institute, Technische Universität Braunschweig, 38106, Braunschweig, Germany.; Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Woestefeld J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.; Alabdi L; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Aldhalaan HM; Autism Department King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lifera Omics, Riyadh 13519, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alshammari MJ; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Cassinari K; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; de Polli Cellin L; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; Clause AR; Illumina Laboratory Services, Illumina Inc., San Diego, CA, USA.; Neurology, Washington University in St. Louis, St. Louis, MO, USA.; de Lima Jorge AA; Genetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.; de Castro Leal A; Department of Integrated Health, State University of Para, Santarem 68010-200, Brazil.; Collins SC; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Eckhold J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Hashem MO; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Jayakar P; Division of Genetics & Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.; Khan AO; Ophthalmology, Integrated Surgical Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.; Kato K; School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Kubica R; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Lyon GJ; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, USA.; Marchi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Kimmig LK; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Mizuno S; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.; Nishio Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, 466-8550, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Prell J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.; Clinical Genetics Unit, Service of Pediatrics, University Hospital 'Lozano Blesa', University of Zaragoza School of Medicine, CIBERER-GV02, Zaragoza, Spain.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Redin C; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rush E; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO, USA.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.; Shamseldin HE; Department of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Starling S; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Astiazaran-Symonds E; Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ, USA.; Taher S; Department of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada.; Yalcin B; Université Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, France.; Wendt KS; Erasmus Medical Centre, Department of Developmental Biology, Rotterdam, The Netherlands.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Parambir S. Dulai; Vipul Jairath; Reena Khanna; Christopher Ma; Kelly P. McCarrier; Mona L. Martin; Claire E. Parker; Joan Morris; Brian G. Feagan; William J. Sandborn
Aliment Pharmacol Ther
Academic Journal
‘When the going gets tough’ – Difficult infection and non-tuberculous mycobacteria. :A162-A163
Academic Journal
Gupta, Aditi ; Dsouza, Nikita R. ; Zarate, Yuri A. ; Lombardo, Rachel ; Hopkin, Robert ; Linehan, Allison R. ; Simpson, Jamela ; McCarrier, Julie ; Agre, Katherine E. ; Gavrilova, Ralitza H. ; Stephens, Michael C. ; Grothe, Rayna M. ; Monaghan, Kristin G. ; Xie, Yili ; Basel, Donald ; Urrutia, Raul A. ; Cole, Conrad R. ; Klee, Eric W. ; Zimmermann, Michael T.
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Gonzalez T; Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Tyler RC; Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Schilter KF; Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Muriello M; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Reddi HV; Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
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