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1
De novo variants in DENND5B cause a neurodevelopmental disorder
학술저널
issue
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
Author
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth
,
Aimee
Andrews, Ashley
Ashley, Euan A.
Afzali, Ben
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen Peter
Chanprasert, Sirisak
Chao, HsiaoTuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Delgado, Margaret
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fu, Jiayu
Gahl, William A.
Glass, Ian
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Gropman, Andrea
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Petcharet, Leoyklang
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N. Pusey
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
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Rives, Lynette
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Rodan, Lance H.
Rosenfeld, Jill A.
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Tran, Alyssa A.
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Urv, Tiina K.
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Wangler, Michael F.
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Wegner, Daniel
Weisz Hubshman, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Scala, Marcello
Tomati, Valeria
Ferla, Matteo
Lena, Mariateresa
Cohen, Julie S.
Fatemi, Ali
Brokamp, Elly
Koziura, Mary E.
Nicouleau, Michael
Rio, Marlene
Siquier, Karine
Boddaert, Nathalie
Musante, Ilaria
Tamburro, Serena
Baldassari, Simona
Iacomino, Michele
Scudieri, Paolo
Bellus, Gary
Reed, Sara
Al Saif, Hind
Russo, Rossana Sanchez
Walsh, Matthew B.
Cantagrel, Vincent
Crunk, Amy
Gustincich, Stefano
Ruggiero, Sarah M.
Fitzgerald, Mark P.
Helbig, Ingo
Striano, Pasquale
Severino, Mariasavina
Salpietro, Vincenzo
Pedemonte, Nicoletta
Zara, Federico
DB Label
Database : ScienceDirect
원문보기
등재 - Web of Science (SCIE)
등재 - SCOPUS
조회 - Impact Factor (JCR)
2
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
학술저널
issue
In
Genetics in Medicine
June 2024 26(6)
Author
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth
,
Aimee
Andrews, Ashley
Ashley, Euan A.
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennett, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Peter Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D’Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Gochuico, Bernadette
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Hadley, Don
Halley, Meghan C.
Hamid, Rizwan
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine V.
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
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
Pusey Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe M.
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin K.
Sinsheimer, Janet S.
Sisco, Kathy
Smith, Edward C.
Smith, Kevin S.
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca C.
Stergachis, Andrew
Stoler, Joan M.
Sullivan, Kathleen
Sullivan, Jennifer A.
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.M.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia J.
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Hubshman, Monika Weisz
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Worley, Kim
Xiao, Changrui
Yamamoto, Shinya
Yang, John
Zhang, Zhe
Zuchner, Stephan
Pucel, Jenna
Reuter, Chloe
Gochyyev, Perman
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Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores
학술저널
issue
In
Genetics in Medicine
September 2023 25(9)
Author
Connolly, John J.
Berner, Eta S.
Smith, Maureen
Levy, Samuel
Terek, Shannon
Harr, Margaret
Karavite, Dean
Suckiel, Sabrina
Holm, Ingrid A.
Dufendach, Kevin
Nelson, Catrina
Khan, Atlas
Chisholm, Rex L.
Allworth
,
Aimee
Wei, Wei-Qi
Bland, Harris T.
Clayton, Ellen Wright
Soper, Emily R.
Linder, Jodell E.
Limdi, Nita A.
Miller, Alexandra
Nigbur, Scott
Bangash, Hana
Hamed, Marwan
Sherafati, Alborz
Lewis, Anna C.F.
Perez, Emma
Orlando, Lori A.
Rakhra-Burris, Tejinder K.
Al-Dulaimi, Mustafa
Cifric, Selma
Scherr, Courtney Lynam
Wynn, Julia
Hakonarson, Hakon
Sabatello, Maya
DB Label
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4
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
학술저널
issue
In
The American Journal of Human Genetics
3 August 2023 110(8):1414-1435
Author
Ambrose, J.C.
Arumugam, P.
Bevers, R.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Brown, M.A.
Caulfield, M.J.
Chan, G.C.
Giess, A.
Griffin, J.N.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Lakey, A.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
McEntagart, M.
Minneci, F.
Mitchell, J.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
O‘Donovan, P.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Pereira, M.B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smith, S.C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Taylor Tavares, A.L.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Zarowiecki, M.
Acosta, Maria T.
Adams, David R.
Alvarez, Raquel L.
Alvey, Justin
Allworth
,
Aimee
Andrews, Ashley
Ashley, Euan A.
Afzali, Ben
Bacino, Carlos A.
Bademci, Guney
Balasubramanyam, Ashok
Baldridge, Dustin
Bale, Jim
Bamshad, Michael
Barbouth, Deborah
Bayrak-Toydemir, Pinar
Beck, Anita
Beggs, Alan H.
Behrens, Edward
Bejerano, Gill
Bellen, Hugo J.
Bennet, Jimmy
Bernstein, Jonathan A.
Berry, Gerard T.
Bican, Anna
Bivona, Stephanie
Blue, Elizabeth
Bohnsack, John
Bonner, Devon
Botto, Lorenzo
Briere, Lauren C.
Brown, Gabrielle
Burke, Elizabeth A.
Burrage, Lindsay C.
Butte, Manish J.
Byers, Peter
Byrd, William E.
Carey, John
Carrasquillo, Olveen
Cassini, Thomas
Chang, Ta Chen
Chanprasert, Sirisak
Chao, Hsiao-Tuan
Chinn, Ivan
Clark, Gary D.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Coggins, Matthew
Cole, F. Sessions
Colley, Heather A.
Cope, Heidi
Corona, Rosario
Craigen, William J.
Crouse, Andrew B.
Cunningham, Michael
D'Souza, Precilla
Dai, Hongzheng
Dasari, Surendra
Davis, Joie
Dayal, Jyoti G.
Delgado, Margaret
Dell'Angelica, Esteban C.
Dipple, Katrina
Doherty, Daniel
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Earl, Dawn
Eckstein, David J.
Emrick, Lisa T.
Eng, Christine M.
Falk, Marni
Fieg, Elizabeth L.
Fisher, Paul G.
Fogel, Brent L.
Forghani, Irman
Fu, Jiayu
Gahl, William A.
Glass, Ian
Goddard, Page C.
Godfrey, Rena A.
Grajewski, Alana
Halley, Meghan C.
Hamid, Rizwan
Hanchard, Neal
Hassey, Kelly
Hayes, Nichole
High, Frances
Hing, Anne
Hisama, Fuki M.
Holm, Ingrid A.
Hom, Jason
Horike-Pyne, Martha
Huang, Alden
Huang, Yan
Hutchison, Sarah
Introne, Wendy
Isasi, Rosario
Izumi, Kosuke
Jarvik, Gail P.
Jarvik, Jeffrey
Jayadev, Suman
Jean-Marie, Orpa
Jobanputra, Vaidehi
Kaitryn, Emerald
Ketkar, Shamika
Kiley, Dana
Kilich, Gonench
Kobren, Shilpa N.
Kohane, Isaac S.
Kohler, Jennefer N.
Korrick, Susan
Krakow, Deborah
Krasnewich, Donna M.
Kravets, Elijah
Lalani, Seema R.
Lam, Byron
Lam, Christina
Lanpher, Brendan C.
Lanza, Ian R.
LeBlanc, Kimberly
Lee, Brendan H.
Levitt, Roy
Lewis, Richard A.
Liu, Pengfei
Liu, Xue Zhong
Longo, Nicola
Loo, Sandra K.
Loscalzo, Joseph
Maas, Richard L.
Macnamara, Ellen F.
MacRae, Calum A.
Maduro, Valerie V.
Maghiro, AudreyStephannie
Mahoney, Rachel
Malicdan, May Christine
Mamounas, Laura A.
Manolio, Teri A.
Mao, Rong
Marom, Ronit
Marth, Gabor
Martin, Beth A.
Martin, Martin G.
Martínez-Agosto, Julian A.
Marwaha, Shruti
McCauley, Jacob
McConkie-Rosell, Allyn
McCray, Alexa T.
McGee, Elisabeth
Might, Matthew
Miller, Danny
Mirzaa, Ghayda
Morava, Eva
Moretti, Paolo
Morimoto, Marie
Mulvihill, John J.
Nakano-Okuno, Mariko
Nelson, Stanley F.
Nieves-Rodriguez, Shirley
Novacic, Donna
Oglesbee, Devin
Orengo, James P.
Pace, Laura
Pak, Stephen
Pallais, J. Carl
Papp, Jeanette C.
Parker, Neil H.
Petcharet, Leoyklang
Phillips, John A., III
Posey, Jennifer E.
Potocki, Lorraine
Swerdzewski, Barbara N.
Quinlan, Aaron
Rao, Deepak A.
Raper, Anna
Raskind, Wendy
Renteria, Genecee
Reuter, Chloe
Rives, Lynette
Robertson, Amy K.
Rodan, Lance H.
Rosenfeld, Jill A.
Rosenthal, Elizabeth
Rossignol, Francis
Ruzhnikov, Maura
Sabaii, Marla
Sacco, Ralph
Sampson, Jacinda B.
Saporta, Mario
Schaechter, Judy
Schedl, Timothy
Schoch, Kelly
Scott, Daryl A.
Seto, Elaine
Sharma, Prashant
Shashi, Vandana
Shelkowitz, Emily
Sheppeard, Sam
Shin, Jimann
Silverman, Edwin
Sinsheimer, Janet
Sisco, Kathy
Smith, Edward
Smith, Kevin
Solnica-Krezel, Lilianna
Solomon, Ben
Spillmann, Rebecca
Stergachis, Andrew
Stoler, Joan
Sullivan, Kathleen
Sullivan, Jennifer
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Tabor, Holly K.
Tan, Queenie K.-G.
Tan, Amelia L.
Tarakad, Arjun
Tekin, Mustafa
Telischi, Fred
Thorson, Willa
Tifft, Cynthia
Toro, Camilo
Tran, Alyssa A.
Ungar, Rachel A.
Urv, Tiina K.
Vanderver, Adeline
Velinder, Matt
Viskochil, Dave
Vogel, Tiphanie P.
Wahl, Colleen E.
Walker, Melissa
Walley, Nicole M.
Wambach, Jennifer
Wan, Jijun
Wang, Lee-kai
Wangler, Michael F.
Ward, Patricia A.
Wegner, Daniel
Weisz, Monika
Wener, Mark
Wenger, Tara
Westerfield, Monte
Wheeler, Matthew T.
Whitlock, Jordan
Wolfe, Lynne A.
Yamamoto, Shinya
Zhang, Zhe
Zuchner, Stephan
Niggl, Eva
Bouman, Arjan
Hoogenboezem, Remco M.
Wallaard, Ilse
Park, Joohyun
Admard, Jakob
Wilke, Martina
Harris-Mostert, Emilio D.R.O.
Elgersma, Minetta
Bain, Jennifer
Balasubramanian, Meena
Banka, Siddharth
Benke, Paul J.
Bertrand, Miriam
Blesson, Alyssa E.
Clayton-Smith, Jill
Ellingford, Jamie M.
Gillentine, Madelyn A.
Goodloe, Dana H.
Haack, Tobias B.
Jain, Mahim
Krantz, Ian
Luu, Sharon M.
McPheron, Molly
Muss, Candace L.
Raible, Sarah E.
Robin, Nathaniel H.
Spiller, Michael
Starling, Susan
Thiffault, Isabelle
Vetrini, Francesco
Witt, Dennis
Woods, Emily
Zhou, Dihong
Elgersma, Ype
van Esbroeck, Annelot C.M.
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5
Returning integrated genomic risk and clinical recommendations: The eMERGE study
학술저널
issue
In
Genetics in Medicine
December 2022
Author
Gordon, Adam
Sobowale, Agboade
Allworth
,
Aimee
Patel, Akshar
DiVietro, Alanna
Strong, Alanna
Sherafati, Alborz
Sherfati, Alborz
Bick, Alex
Miller, Alexandra
Chandel, Alka
Rosenthal, Alyssa
Khera, Amit
Kontorovich, Amy
Beck, Andrew
Beck, Andy
Espinoza, Angelica
Lewis, Anna
Prince, Anya
Khan, Atlas
Iverson, Ayuko
Khales, Bahram Namjou
Benoit, Barbara
Hernan, Becca
Kallman, Ben
Kerman, Ben
Shoemaker, Ben
Satterfield, Benjamin
Devine, Beth
Etheridge, Bethany
Goff, Blake
Freimuth, Bob
Grundmeier, Bob
Collier, Brenae
Mutai, Brenda
Harnett, Brett
Chang, Brian
Piening, Brian
Davis, Brittney
Korf, Bruce
Patterson, Candace
Demetriou, Carmen
Ta, Casey
Hammack, Catherine
Nelson, Catrina
Gascoigne, Caytie
Dorn, Chad
Moretz, Chad
Kachulis, Chris
Hoell, Christie
Cowles, Christine
Lange, Christoph
Weng, Chunhua
Prows, Cindy
Brokamp, Cole
Liu, Cong
Scherr, Courtney
Gonzalez, Crystal
Ramirez, Cynthia
Shimbo, Daichi
Roden, Dan
Schaid, Daniel
Kaufman, Dave
Crosslin, David
Kochan, David
Veenstra, David
Singh, Davinder
Karavite, Dean
Abrams, Debbie
Absher, Devin
Edwards, Digna Velez
Haverfield, Eden
Morales, Eduardo
Esplin, Edward
Malolepsza, Edyta
Alipour, Ehsan
Kenny, Eimear
Rosenthal, Elisabeth
Duvall, Eliza
McNally, Elizabeth
Bhoj, Elizabeth
Cohn, Elizabeth
Hibler, Elizabeth
Karlson, Elizabeth
Clayton, Ellen
Chesnut, Emily
DeFranco, Emily
Gallagher, Emily
Soper, Emily
Perez, Emma
Cash, Erin
Berner, Eta
Wang, Fei
Wehbe, Firas
Ricci, Francisco
Mentch, Frank
Shaibi, Gabriel
Jarvik, Gail
Hahn, George
Hripcsak, George
Wiesner, Georgia
Belbin, Gillian
Davogustto, Gio
Nadkarni, Girish
Qiu, Haijun
Hakonarson, Hakon
Bangash, Hana
Beasley, Hannah
Liu, Hao
Aungst, Heide
Tiwari, Hemant
Duckham, Hillary
Thomas, Hope
Kullo, Iftikhar
Holm, Ingrid
Allen, Isabelle
Ionita-Laza, Iuliana
Hellwege, Jacklyn
Petrzelka, Jacob
Odgis, Jacqueline
Narula, Jahnavi
Petrzelka, Jake
Patel, Jalpa
Cimino, James
Meigs, James
Snyder, James
Olson, Janet
Zahner, Janet
Pennington, Jeff
Pacheco, Jen
Pacheco, Jennifer Allen
Morse, Jennifer
Corsmo, Jeremy
Thayer, Jeritt
Cimino, Jim
Chen, Jingheng
Fournier, Jocelyn
Jackson, Jodell
Glessner, Joe
Pacyna, Joel
Smith, Johanna
Connolly, John
Lynch, John
Shelley, John
Mosley, Jonathan
Nestor, Jordan
Smoller, Jordan
Alsip, Jorge
Kannry, Joseph
Sutton, Joseph
Peterson, Josh
Smith, Joshua
Galasso, Julia
Smith, Julia
Wynn, Julia
Gundelach, Justin
Starren, Justin
Choi, Karmel
Mittendorf, Kate
Anderson, Katherine
Bonini, Katherine
Leppig, Kathleen
Muenzen, Kathleen
Larkin, Katie
Stuttgen, Kelsey
Wiley, Ken
Nguyen, Kenny
Dufendach, Kevin
Atkins, Kiley
Sawicki, Konrad
Norland, Kristjan
Kiryluk, Krzysztof
Beskow, Laura
Rasmussen-Torvik, Laura
Kottyan, Leah
Hsu, Li
Tian, Lifeng
Mahanta, Lisa
Martin, Lisa
Wang, Lisa
Gomez, Lizbeth
Thompson, Lorenzo
Orlando, Lori
Richter, Lucas
Rasmussen, Luke
Petukhova, Lynn
Seabolt, Lynn
O’Brien, Madison
Harden, Maegan
Fullerton, Malia
Harr, Margaret
Beasley, Mark
Guindo, Marta
Horike, Martha
Horike-Pyne, Martha
Abdalla, Marwah
Hamed, Marwan
Terry, Mary Beth
Maradik, Mary
Wyatt, Matt
Davis, Matthew
Lebo, Matthew
Smith, Maureen
Rosario, Maya del
Sabatello, Maya
Behr, Meckenzie
Roy-Puckelwartz, Meg
Habrat, Mel
Myers, Melanie
Yetisgen, Meliha
Iris, Merve
DaSilva, Michael
Preuss, Michael
McGowan, Michelle
Shi, Mingjian
Perera, Minoli
Thomas, Minta
Elkind, Mitch
Abbass, Mohammad
Saadatagah, Mohammad
Hess, Molly
Maradik, Molly
Vaitinadin, Nataraja “RJ”
Vaitinadin, Nataraja
Muthu, Naveen
Netherly, Neil
Lennon, Niall
Shang, Ning
Limdi, Nita
Forrest, Noah
Romero, Noheli
Robinson, Nora
Abul-Husn, Noura
Elsekaily, Omar
Dikilitas, Ozan
Kovatch, Patricia
Davis, Patrick
Appelbaum, Paul
Francaviglia, Paul
O’Reilly, Paul
Chandler, Paulette
Caraballo, Pedro
Tarczy-Hornoch, Peter
Shum, Pierre
Marathe, Priya
Murali, Priyanka
Feng, Qiping
Wells, Quinn
Atchley, Rachel
Narla, Radhika
Barton, Rene
Sterling, Rene
Chisholm, Rex
Green, Richard
Sharp, Richard
Peters, Riki
Kukafka, Rita
Rowley, Robb
Freimuth, Robert
Green, Robert
Winter, Robert
Mueller, Roger
Loos, Ruth
Irvin, Ryan
Suckiel, Sabrina
Hussain, Sajjad
Sharba, Samer
Aronson, Sandy
Jones, Sarah
Knerr, Sarah
Nigbur, Scott
Weiss, Scott
Mooney, Sean
Terek, Shannon
Aufox, Sharon
Nirenberg, Sharon
Murphy, Shawn
O’Byrne, Sheila
Wang (Sam) Choi, Shing
Aguilar, Sienna
Bland, S.T.
Rodrigues, Stefanie
Ledbetter, Stephanie
Rutledge, Stephanie
Booth, Stuart James
Xian, Su
Trinidad, Susan Brown
Bakken, Suzanne
Schmidlen, Tara
Rakhra-Burris, Tejinder
Manolio, Teri
Mersha, Tesfaye
Walunas, Theresa
Chandereng, Thevaa
May, Thomas
Ge, Tian
Edwards, Todd
Kaszemacher, Tom
Hernandez, Valentina
Willis, Valerie
Desai, Vemi
Desai, Vimi
Lorenzi, Virginia
Gainer, Vivian
Wei, Wei-Qi
Chung, Wendy
Su, Wu-Chen
Chang, Xiao
Zhao, Yiqing
Luo, Yuan
Shen, Yufeng
Linder, Jodell E.
Bland, Sarah T.
Caraballo, Pedro J.
Chisholm, Rex L.
Clayton, Ellen Wright
Crosslin, David R.
Esplin, Edward D.
Forman, Sophie
Freimuth, Robert R.
Gordon, Adam S.
Harden, Maegan V.
Holm, Ingrid A.
Jarvik, Gail P.
Karlson, Elizabeth W.
Labrecque, Sofia
Lennon, Niall J.
Limdi, Nita A.
Mittendorf, Kathleen F.
Murphy, Shawn N.
Prows, Cynthia A.
Rasmussen, Luke V.
Sawicki, Konrad Teodor
Velez Edwards, Digna R.
Abul-Husn, Noura S.
Below, Jennifer E.
Berner, Eta S.
Booth, James
Chung, Wendy K.
Cimino, James J.
Fullerton, Stephanie M.
Guiducci, Candace
Habrat, Melissa L.
Hain, Heather
Hoell, Christin
Irvin, Marguerite R.
Kachulis, Christopher
Kenny, Eimear E.
Kullo, Iftikhar J.
Manolio, Teri A.
McNally, Elizabeth M.
Mooney, Sean D.
Namjou, Bahram
Perez, Emma F.
Puckelwartz, Megan J.
Roden, Dan M.
Rosenthal, Elisabeth A.
Saadatagah, Seyedmohammad
Schaid, Dan J.
Schultz, Baergen
Shaibi, Gabriel Q.
Sharp, Richard R.
Shirts, Brian
Smith, Maureen E.
Smoller, Jordan W.
Suckiel, Sabrina A.
Tiwari, Hemant K.
Trinidad, Susan B.
Wells, Quinn S.
Wiesner, Georgia L.
Peterson, Josh F.
DB Label
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6
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
학술저널
issue
Annals of Clinical & Translational Neurology; Apr2024, Vol. 11 Issue 4, p1075-1079, 5p
Author
Dohrn, Maike F.
Bademci, Guney
Rebelo, Adriana P.
Jeanne, Médéric
Borja, Nicholas A.
Beijer, Danique
Danzi, Matt C.
Bivona, Stephanie A.
Gueguen, Paul
Zafeer, Mohammad F.
Tekin, Mustafa
Züchner, Stephan
Acosta, Maria T.
Adams, David R.
Afzali, Ben
Allworth
,
Aimee
Alvarez, Raquel L.
Alvey, Justin
Andrews, Ashley
Ashley, Euan A.
DB Label
Database : Complementary Index
원문보기
Open Access (Wiley)
등재 - Web of Science (SCIE)
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7
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
학술저널
issue
Neurology: Genetics; Oct2023, Vol. 9 Issue 5, p1-14, 14p
Author
Stergachis, Andrew B.
Blue, Elizabeth E.
Gillentine, Madelyn A.
Lee-Kai Wang
Schwarze, Ulrike
Cortés, Adriana Sedeño
Ranchalis, Jane
Allworth
,
Aimee
Bland, Austin E.
Chanprasert, Sirisak
Jingheng Chen
Doherty, Daniel
Folta, Andrew B.
Glass, Ian
Horike-Pyne, Martha
Huang, Alden Y.
Khan, Alyna T.
Leppig, Kathleen A.
Miller, Danny E.
Mirzaa, Ghayda
DB Label
Database : Complementary Index
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8
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
학술저널
issue
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
; MAY 16 2023, 8p.
Author
Pujol-Gimenez, Jonai
Mirzaa, Ghayda
Blue, Elizabeth E.
Albano, Giuseppe
Miller, Danny E.
Allworth
,
Aimee
Bennett, James T.
Byers, Peter H.
Chanprasert, Sirisak
Chen, Jingheng
Doherty, Daniel
Folta, Andrew B.
Gillentine, Madelyn A.
Glass, Ian
Hing, Anne
Horike-Pyne, Martha
Leppig, Kathleen A.
Parhin, Azma
Ranchalis, Jane
Raskind, Wendy H.
Rosenthal, Elisabeth A.
Schwarze, Ulrike
Sheppeard, Sam
Strohbehn, Samuel
Sybert, Virginia P.
Timms, Andrew
Wener, Mark
Bamshad, Michael J.
Hisama, Fuki M.
Jarvik, Gail P.
Dipple, Katrina M.
Hediger, Matthias A.
Stergachis, Andrew B.
Univ Washington Ctr Mendelian
Undiagnosed Dis Network UDN
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (Wiley)
등재 - Web of Science
등재 - SCOPUS
조회 - Impact Factor (JCR)
9
Returning integrated genomic risk and clinical recommendations: The eMERGE study
학술저널
issue
GENETICS IN MEDICINE
; APR 2023, 25 4, p100006 14p.
Author
Linder, Jodell E.
Allworth
,
Aimee
Bland, Sarah T.
Caraballo, Pedro J.
Chisholm, Rex L.
Clayton, Ellen Wright
Crosslin, David R.
Dikilitas, Ozan
DiVietro, Alanna
Esplin, Edward D.
Forman, Sophie
Freimuth, Robert R.
Gordon, Adam S.
Green, Richard
Harden, Maegan, V
Holm, Ingrid A.
Jarvik, Gail P.
Karlson, Elizabeth W.
Labrecque, Sofia
Lennon, Niall J.
Limdi, Nita A.
Mittendorf, Kathleen F.
Murphy, Shawn N.
Orlando, Lori
Prows, Cynthia A.
Rasmussen, Luke, V
Rasmussen-Torvik, Laura
Rowley, Robb
Sawicki, Konrad Teodor
Schmidlen, Tara
Terek, Shannon
Veenstra, David
Edwards, Digna R. Velez
Absher, Devin
Abul-Husn, Noura S.
Alsip, Jorge
Bangash, Hana
Beasley, Mark
Below, Jennifer E.
Berner, Eta S.
Booth, James
Chung, Wendy K.
Cimino, James J.
Connolly, John
Davis, Patrick
Devine, Beth
Fullerton, Stephanie M.
Guiducci, Candace
Habrat, Melissa L.
Hain, Heather
Hakonarson, Hakon
Harr, Margaret
Haverfield, Eden
Hernandez, Valentina
Hoell, Christin
Horike-Pyne, Martha
Hripcsak, George
Irvin, Marguerite R.
Kachulis, Christopher
Karavite, Dean
Kenny, Eimear E.
Khan, Atlas
Kiryluk, Krzysztof
Korf, Bruce
Kottyan, Leah
Kullo, Iftikhar J.
Larkin, Katie
Liu, Cong
Malolepsza, Edyta
Manolio, Teri A.
May, Thomas
McNally, Elizabeth M.
Mentch, Frank
Miller, Alexandra
Mooney, Sean D.
Murali, Priyanka
Mutai, Brenda
Muthu, Naveen
Namjou, Bahram
Perez, Emma F.
Puckelwartz, Megan J.
Rakhra-Burris, Tejinder
Roden, Dan M.
Rosenthal, Elisabeth A.
Saadatagah, Seyedmohammad
Sabatello, Maya
Schaid, Dan J.
Schultz, Baergen
Seabolt, Lynn
Shaibi, Gabriel Q.
Sharp, Richard R.
Shirts, Brian
Smith, Maureen E.
Smoller, Jordan W.
Sterling, Rene
Suckiel, Sabrina A.
Thayer, Jeritt
Tiwari, Hemant K.
Trinidad, Susan B.
Walunas, Theresa
Wei, Wei-Qi
Wells, Quinn S.
Weng, Chunhua
Wiesner, Georgia L.
Wiley, Ken
eMERGE Consortium, Josh F.
Peterson, Josh F.
DB Label
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원문보기
Full Text (ScienceDirect O/A)
등재 - Web of Science
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조회 - Impact Factor (JCR)
10
P364: Mosaic copy gain of 16p with supernumerary chromosome formation: An emerging phenotype
학술저널
issue
In
Genetics in Medicine Open
2024 2 Supplement 1
Author
Lenahan, Arthur
Glass, Ian
Stergachis, Andrew
Paschal, Cate
Blue, Elizabeth
Allworth
,
Aimee
Cristian, Ingrid
Miller, Danny
Morrison, Jennifer
DB Label
Database : ScienceDirect
원문보기
Full Text (Clinical Key)
Full Text (ScienceDirect O/A)
1
2
3
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