학술논문
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'학술논문'
에서 검색결과 16건 | 목록
1~20
Academic Journal
Rebekah Barrick; Eshita Shah; Jonathan LoTempio; Hallie Andrew; Emmanuèle Délot; Vincent Fusaro; Seth Berger; Eric Vilain; Changrui Xiao
Genetics in Medicine Open, Vol 3, Iss , Pp 102382- (2025)
Academic Journal
Wei-Lin Huang; Maija R. Steenari; Rebekah Barrick; Mariella T. Simon; Richard Chang; Shaya S. Eftekharian; Alexander Stover; Philip H. Schwartz; Alexandra Latini; Jose E. Abdenur
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)
Academic Journal
Gudny A. Arnadottir; Asmundur Oddsson; Brynjar O. Jensson; Svanborg Gisladottir; Mariella T. Simon; Asgeir O. Arnthorsson; Hildigunnur Katrinardottir; Run Fridriksdottir; Erna V. Ivarsdottir; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Rebekah Barrick; Jona Saemundsdottir; Louise le Roux; Gudjon R. Oskarsson; Jurate Asmundsson; Thora Steffensen; Kjartan R. Gudmundsson; Petur Ludvigsson; Jon J. Jonsson; Gisli Masson; Ingileif Jonsdottir; Hilma Holm; Jon G. Jonasson; Olafur Th. Magnusson; Olafur Thorarensen; Jose Abdenur; Gudmundur L. Norddahl; Daniel F. Gudbjartsson; Hans T. Bjornsson; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Academic Journal
Uyen Vo; Alexander Stover; Wei-Lin Huang; Bianca Russell; Rebekah Barrick; Phillip Schwartz; Alexandra Latini; Jose Abdenur
Free Radical Biology and Medicine. 240:S24-S25
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; Kumarie Latchman; Lakshitha Perera; Lance H Rodan; Laura Keehan; Laurel A Cobban; Lauren Blieden; Lauren C Briere; Lauren Jeffries; Laurens Wiel; Layal F Abi Farraj; Leoyklang Petcharet; LéShon Peart; Lili Mantcheva; Lilianna Solnica-Krezel; Lindsay C Burrage; Lindsay Mulvihill; Lisa Bastarache; Lisa Schimmenti; Lisa T Emrick; Lorenzo Botto; Lorraine Potocki; Louise Bier; Lynette Rives; Lynne A Wolfe; Mafalda Barbosa; Maija-Rikka Steenari; Manish J Butte; Manisha Balwani; Margaret Delgado; María José Ortuño Romero; María Paula Silva; Maria T Acosta; Marie Morimoto; Mariko Nakano-Okuno; Mariya Shadrina; Mark Gerstein; Mark Wener; Marla Sabaii; Martha Horike-Pyne; Martin G Martin; Martin Rodriguez; Mary Koziura; Matt Velinder; Matthew Coggins; Matthew Might; Matthew Robinson; Matthew T Wheeler; MayChristine V Malicdan; Megan Bell; Meghan C Halley; Melissa Walker; Mia Levanto; Michael Bamshad; Michael F Wangler; Michael Muriello; Michael T Zimmermann; Michele Spencer-Manzon; Miranda Leitheiser; Mohamad Mikati; Mohamad Saifeddine; Monika Weisz Hubshman; Monkol Lek; Monte Westerfield; Mustafa Tekin; Nada Derar; Naghmeh Dorrani; Nara Sobreira; Neil H Parker; Neil Hanchard; Nicholas Borja; Nicola Longo; Nicole M Walley; Nitsuh K Dargie; Odelya Kaufman; Oguz Kanca; Orpa Jean-Marie; Page C Goddard; Paolo Moretti; Patricia A Ward; Patricia Dickson; Patrick McMullen; Paul Auwaerter; Paul Berger; Paul G Fisher; Pengfei Liu; Peter Byers; Philip Dane Witmer; Pinar Bayrak-Toydemir; Pongtawat Lertwilaiwittaya; Precilla D’Souza; Queenie Tan; Rachel A Ungar; Rachel Evard; Rachel Li; Rakale C Quarells; Ramakrishnan Rajagopalan; Raquel L Alvarez; Reaford Blackburn; Rebecca C Spillmann; Rebecca Ganetzky; Rebecca Overbury; Rebekah Barrick; Richard A Lewis; Richard Chang; Richard L Maas; Rizwan Hamid; Rong Mao; Ronit Marom; Rosario I Corona; Runjun Kumar; Russell Butterfield; Sanaz Attaripour; Sandesh Nagamani; Sara Emami; Saskia Shuman; Seema R Lalani; Seth Perlman; Shamika Ketkar; Shamil R Sunyaev; Shilpa N Kobren; Shinya Yamamoto; Shrikant Mane; Sirisak Chanprasert; Stanley F Nelson; Stephan Zuchner; Stephanie Bivona; Stephanie M Ware; Stephen B Montgomery; Stephen C Pak; Steven Boyden; Suha Bachir; Surendra Dasari; Susan Korrick; Susan Shin; Suzanne Sandmeyer; Tahseen Mozaffar; Tammi Skelton; Tanner D Jensen; Tarun KK Mamidi; Taylor Beagle; Taylor Maurer; Teneasha Washington; Teodoro Jerves Serrano; Terra R Coakley; Thomas Cassini; Thomas J Nicholas; Timothy Schedl; Tiphanie P Vogel; Vaidehi Jobanputra; Valerie V Maduro; Vandana Shashi; Vasilis Vasiliou; Virginia Sybert; Vishnu Cuddapah; Wendy Introne; Wendy Raskind; Willa Thorson; William A Gahl; William E Byrd; William J Craigen; Winston Halstead; Winston Timp; Yan Huang; Yigit Karasozen; Yong-Hui Jiang; Yuka Manabe; Zackary Dov Berger; Ziyuan Guo; Matthew T. Wheeler; Gabor T. Marth
Genome Med
Academic Journal
Rhys Dore; Chu-Ting Chang; Amber Declève; Gloria Brunori; W. Grant Ludlam; Alden Huang; Mojtaba Movahedinia; Nadirah S. Damseh; Ijaz Anwar; Mohammad Yahya Vahidi Mehrjardi; Annelii Ny; Mehdi Khorrami; Majid Kheirollahi; Helen Frederiksen; Fatemeh Eghbal; Mohammad Reza Mirjalili; Mohammadreza Dehghani; Ehsan Ghayoor Karimiani; Sergey Oreshkov; Cesar Alves; Pasquale Striano; Mohnish Suri; Julian Martinez-Agosto; Muhammad Ansar; Muhammad Zahid; Samra Akram; Stanley F. Nelson; Aaron Quinlan; Adeline Vanderver; Adriana Rebelo; Aimee Allworth; Alan H. Beggs; Alex Paul; Ali Al-Beshri; Alistair Ward; Allyn McConkie-Rosell; Alyssa A. Tran; Andrea Gropman; Andres Vargas; Andrew B. Crouse; Andrew Stergachis; Anita Beck; Anna Hurst; Anna Raper; Anne Hing; Arjun Tarakad; Ashley Andrews; Ashley McMinn; Ashok Balasubramanyam; AudreyStephannie C. Maghiro; Barbara N. Pusey Swerdzewski; Ben Afzali; Ben Solomon; Beth A. Martin; Breanna Mitchell; Brendan C. Lanpher; Brendan H. Lee; Brent L. Fogel; Brett H. Graham; Brian Corner; Bruce Korf; Calum A. MacRae; Camilo Toro; Cara Skraban; Carlos A. Bacino; Carson A. Smith; Cecilia Esteves; Changrui Xiao; Chloe M. Reuter; Christina Lam; Christine M. Eng; Claire Henchcliffe; Colleen E. Wahl; Corrine K. Welt; Cynthia J. Tifft; Dana Kiley; Daniel Doherty; Daniel J. Rader; Daniel Wegner; Danny Miller; Daryl A. Scott; Dave Viskochil; David A. Sweetser; David R. Adams; Dawn Earl; Deborah Barbouth; Deepak A. Rao; Devin Oglesbee; Devon Bonner; Donna Novacic; Dustin Baldridge; Edward Behrens; Edwin K. Silverman; Elaine Seto; Elijah Kravets; Elizabeth A. Burke; Elizabeth Blue; Elizabeth L. Fieg; Elizabeth Rosenthal; Ellen F. Macnamara; Elsa Balton; Emily Glanton; Emily Shelkowitz; Eric Allenspach; Eric Klee; Eric Vilain; Erin Baldwin; 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; Gill Bejerano; Giorgio Sirugo; Gonench Kilich; Guney Bademci; Heidi Wood; Herman Taylor; Holly K. Tabor; Hongzheng Dai; Hsiao-Tuan Chao; Hugo J. Bellen; Ian Glass; Ian R. Lanza; Ingrid A. Holm; Isaac S. Kohane; Ivan Chinn; J. Carl Pallais; Jacinda B. Sampson; James P. Orengo; Jason Hom; Jennefer N. Kohler; Jennifer E. Posey; Jennifer Wambach; Jessica Douglas; Jiayu Fu; Jill A. Rosenfeld; Jimann Shin; Jimmy Bennett; Joan M. Stoler; Joanna M. Gonzalez; John A. Phillips; John Carey; John J. Mulvihill; Joie Davis; Jonathan A. Bernstein; Jordan Whitlock; Jose Abdenur; Joseph Loscalzo; Joy D. Cogan; Julian A. Martínez-Agosto; Justin Alvey; Kahlen Darr; Kaitlin Callaway; Kathleen A. Leppig; Kathleen Sullivan; Kathy Sisco; Kathyrn Singh; Katrina Dipple; Kayla M. Treat; Kelly Hassey; Kelly Schoch; Kevin S. Smith; Khurram Liaqat; Kim Worley; Kimberly Ezell; Kimberly LeBlanc; Kumarie Latchman; Lance H. Rodan; Laura Pace; Laurel A. Cobban; Lauren C. Briere; Leoyklang Petcharet; LéShon Peart; Lili Mantcheva; Lilianna Solnica-Krezel; Lindsay C. Burrage; Lindsay Mulvihill; Lisa Schimmenti; Lisa T. Emrick; Lorenzo Botto; Lorraine Potocki; Lynette Rives; Lynne A. Wolfe; Manish J. Butte; Margaret Delgado; Maria T. Acosta; Marie Morimoto; Mariko Nakano-Okuno; Mark Wener; Marla Sabaii; Martha Horike-Pyne; Martin G. Martin; Martin Rodriguez; Matt Velinder; Matthew Coggins; Matthew Might; Matthew T. Wheeler; Maura Ruzhnikov; MayChristine V. Malicdan; Meghan C. Halley; Melissa Walker; Michael Bamshad; Michael F. Wangler; Miguel Almalvez; Mohamad Mikati; Monika Weisz Hubshman; Monte Westerfield; Mustafa Tekin; Naghmeh Dorrani; Neil H. Parker; Neil Hanchard; Nicholas Borja; Nicola Longo; Nicole M. Walley; Nina Movsesyan; Nitsuh K. Dargie; Oguz Kanca; Orpa Jean-Marie; Page C. Goddard; Paolo Moretti; Patricia A. Ward; Patricia Dickson; Paul G. Fisher; Pengfei Liu; Peter Byers; Pinar Bayrak-Toydemir; Precilla D'Souza; Queenie Tan; Rachel A. Ungar; Rachel Mahoney; Ramakrishnan Rajagopalan; Raquel L. Alvarez; Rebecca C. Spillmann; Rebecca Ganetzky; Rebecca Overbury; Rebekah Barrick; Richard A. Lewis; Richard L. Maas; Rizwan Hamid; Rong Mao; Ronit Marom; Rosario I. Corona; Russell Butterfield; Sam Sheppeard; Sanaz Attaripour; Seema R. Lalani; Serena Neumann; Shamika Ketkar; Shamil R. Sunyaev; Shilpa N. Kobren; Shinya Yamamoto; Shirley Sutton; Shruti Marwaha; Sirisak Chanprasert; Stephan Zuchner; Stephanie Bivona; Stephanie M. Ware; Stephen Pak; Steven Boyden; Suman Jayadev; Surendra Dasari; Susan Korrick; Suzanne Sandmeyer; Tahseen Mozaffar; Tammi Skelton; Tara Wenger; Terra R. Coakley; Thomas Cassini; Thomas J. Nicholas; Timothy Schedl; Tiphanie P. Vogel; Vaidehi Jobanputra; Valerie V. Maduro; Vandana Shashi; Virginia Sybert; Vishnu Cuddapah; Wendy Introne; Wendy Raskind; Willa Thorson; William A. Gahl; William E. Byrd; William J. Craigen; Yan Huang; Yigit Karasozen; Stylianos E. Antonarakis; Henry Houlden; Daniëlle Copmans; Kirill A. Martemyanov; Reza Maroofian
Genetics in Medicine. 27:101506
Academic Journal
Molecular Genetics and Metabolism. 146:109228
Academic Journal
Lekha Chilakamarri; Matthew B. Neu; Rebekah Barrick; Suzette M. Huguenin; Jose E. Abdenur; Tina M. Cowan; Kristina P. Cusmano-Ozog; Christina G. Tise
Molecular Genetics and Metabolism. 146:109225
Academic Journal
Annalisa Vetro; Cristiana Pelorosso; Simona Balestrini; Alessio Masi; Sophie Hambleton; Emanuela Argilli; Valerio Conti; Simone Giubbolini; Rebekah Barrick; Gaber Bergant; Karin Writzl; Emilia K. Bijlsma; Theresa Brunet; Pilar Cacheiro; Davide Mei; Anita Devlin; Mariëtte J.V. Hoffer; Keren Machol; Guido Mannaioni; Masamune Sakamoto; Manoj P. Menezes; Thomas Courtin; Elliott Sherr; Riccardo Parra; Ruth Richardson; Tony Roscioli; Marcello Scala; Celina von Stülpnagel; Damian Smedley; Francesca Pochiero; Francesco Mari; Venkateswaran Ramesh; Valeria Capra; Margherita Mancardi; Boris Keren; Cyiril Mignot; Matteo Lulli; Kendall Parks; Helen Griffin; Melanie Brugger; Vincenzo Nigro; Yuko Hirata; Reiko Koichihara; Borut Peterlin; Ryuto Maki; Yohei Nitta; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Daniel Perez-Gil; Marina B. Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Annalaura Torella; Jun Tohyama; Keisuke Hamada; Kazuhiro Ogata; Takashi Suzuki; Atsushi Sugie; Jasper J. van der Smagt; Koen van Gassen; Stephanie Valence; Emma Vittery; Stephen Malone; Mitsuhiro Kato; Naomichi Matsumoto; Gian Michele Ratto; Renzo Guerrini
Am J Hum Genet
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
Academic Journal
Sarah Fazal; Harriet Dashnow; Maike F. Dohrn; Jacquelyn Raposo; Laurel Hiatt; Matt C. Danzi; Isaac R.L. Xu; Camilo Toro; David R. Adams; Karen Usdin; Bruce Hayward; Shilpa Nadimpalli Kobren; Shamil R. Sunyaev; Rebecca C. Spillmann; Vandana Shashi; Adriana Rebelo; Guney Bademci; Aaron Quinlan; Abdul Elkadri; Adeline Vanderver; Alan H. Beggs; Albert R. La Spada; Alden Huang; Alex Paul; Alexander Miller; Ali Al-Beshri; Alistair Ward; Allen Bale; Allyn McConkie-Rosell; Alyssa A. Tran; Andrea Gropman; Andres Vargas; Andrew B. Crouse; Andrew Stergachis; Anna Hurst; Anna Raper; Arjun Tarakad; Ashley Andrews; Ashley McMinn; Ashok Balasubramanyam; 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; Brian Corner; Brianna Tucker; Bruce Korf; Calum A. MacRae; Cara Skraban; Carlos A. 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Smith; Khurram Liaqat; Kim Worley; Kimberly Ezell; Kimberly LeBlanc; Kumarie Latchman; Lance H. Rodan; Laura Keehan; Laura Pace; Laurel A. Cobban; Lauren Blieden; Lauren C. Briere; Lauren Jeffries; Laurens Wiel; Layal F. Abi Farraj; Leoyklang Petcharet; LéShon Peart; Lili Mantcheva; Lilianna Solnica-Krezel; Lindsay C. Burrage; Lindsay Mulvihill; Lisa Schimmenti; Lisa T. Emrick; Lorenzo Botto; Lorraine Potocki; Lynette Rives; Lynne A. Wolfe; Maija-Rikka Steenari; Manish J. Butte; Margaret Delgado; María José Ortuño Romero; Maria T. Acosta; Marie Morimoto; Mariko Nakano-Okuno; Mark Gerstein; Mark Wener; Marla Sabaii; Martha Horike-Pyne; Martin G. Martin; Martin Rodriguez; Matt Velinder; Matthew Coggins; Matthew Might; Matthew T. Wheeler; MayChristine V. Malicdan; Megan Bell; Meghan C. Halley; Melissa Walker; Mia Levanto; Michael Bamshad; Michael F. Wangler; Michael Muriello; Michael Zimmermann; Michele Spencer-Manzon; Miranda Leitheiser; Mohamad Mikati; Mohamad Saifeddine; Monika Weisz Hubshman; Monkol Lek; Monte Westerfield; Mustafa Tekin; Nada Derar; Naghmeh Dorrani; Neil H. Parker; Neil Hanchard; Nicholas Borja; Nicola Longo; Nicole M. Walley; Nitsuh K. Dargie; Odelya Kaufman; Oguz Kanca; Orpa Jean-Marie; Page C. Goddard; Paolo Moretti; Patricia A. Ward; Patricia Dickson; Paul Berger; Paul G. Fisher; Pengfei Liu; Peter Byers; Pinar Bayrak-Toydemir; Precilla D'Souza; Queenie Tan; Rachel A. Ungar; Rachel Li; Rachel Mahoney; Ramakrishnan Rajagopalan; Raquel L. Alvarez; Rebecca Ganetzky; Rebecca Overbury; Rebekah Barrick; Richard A. Lewis; Richard L. Maas; Rizwan Hamid; Rong Mao; Ronit Marom; Rosario I. Corona; Runjun Kumar; Russell Butterfield; Sanaz Attaripour; Sandesh Nagamani; Sara Emami; Seema R. Lalani; Serena Neumann; Seth Perlman; Shamika Ketkar; Shilpa N. Kobren; Shinya Yamamoto; Shrikant Mane; Shruti Marwaha; Sirisak Chanprasert; Stanley F. Nelson; Stephan Zuchner; Stephanie Bivona; Stephanie M. Ware; Stephen B. Montgomery; Stephen Pak; Steven Boyden; Suha Bachir; Surendra Dasari; Susan Korrick; Suzanne Sandmeyer; Tahseen Mozaffar; Tammi Skelton; Tanner D. Jensen; Tarun KK. Mamidi; Taylor Beagle; Taylor Maurer; Teodoro Jerves Serrano; Terra R. Coakley; Thomas Cassini; Thomas J. Nicholas; Timothy Schedl; Tiphanie P. Vogel; Vaidehi Jobanputra; Valerie V. Maduro; Vasilis Vasiliou; Virginia Sybert; Vishnu Cuddapah; Wendy Introne; Wendy Raskind; Willa Thorson; William A. Gahl; William E. Byrd; William J. Craigen; Winston Halstead; Yan Huang; Yigit Karasozen; Yong-Hui Jiang; Aaron R. Quinlan
Genetics in Medicine. 27:101462
Academic Journal
Shilpa Nadimpalli Kobren; Mikhail A. Moldovan; Rebecca Reimers; Daniel Traviglia; Xinyun Li; Danielle Barnum; Alexander Veit; Rosario I. Corona; George de V. Carvalho Neto; Julian Willett; Michele Berselli; William Ronchetti; Stanley F. Nelson; Julian A. Martinez-Agosto; Richard Sherwood; Joel Krier; Isaac S. Kohane; Jose Abdenur; Maria T. Acosta; David R. Adams; null Ben Afzali; Ali Al-Beshri; Eric Allenspach; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Beatriz Anguiano; Euan A. Ashley; Sanaz Attaripour; Suha Bachir; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Erin E. Baldwin; Allen Bale; Elsa Balton; Manisha Balwani; Michael Bamshad; Mafalda Barbosa; Deborah Barbouth; Rebekah Barrick; Donald Basel; Pinar Bayrak-Toydemir; Taylor Beagle; Alan H. Beggs; Edward Behrens; Megan Bell; Hugo J. Bellen; Paul Berger; Jonathan A. Bernstein; Gerard T. Berry; Louise Bier; Stephanie Bivona; Kirsten Blanco; Lauren Blieden; Elizabeth Blue; Devon Bonner; Brett Bordini; Nicholas Borja; Lorenzo Botto; Steven Boyden; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Francisco Bustos; Manish J. Butte; Russell Butterfield; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; Thomas Cassini; Chun-Hung Chan; Richard Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Elizabeth C. Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Erin Conboy; Brian Corner; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Charlotte Cunningham-Rundles; Precilla D’Souza; Hongzheng Dai; Nitsuh K. Dargie; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell’Angelica; Nada Derar; Patricia Dickson; Katrina Dipple; Naghmeh Dorrani; Jessica Douglas; Abdul Elkadri; Sara Emami; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Rachel Evard; Kimberly Ezell; Layal F. Abi Farraj; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Eric Gayle; Bruce Gelb; Mark Gerstein; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; John E. Gorzynski; Brett H. Graham; Andrea Gropman; Meghan C. Halley; Winston Halstead; Rizwan Hamid; Neil Hanchard; Kelly Hassey; Caroline Hendry; Frances High; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Yan Huang; Alden Huang; Monika Weisz Hubshman; Anna Hurst; John A. Phillips; Wendy Introne; Ayuko Iverson; Gail P. Jarvik; Orpa Jean-Marie; Lauren Jeffries; Joanna Jen; Tanner D. Jensen; Yong-Hui Jiang; Vaidehi Jobanputra; Oguz Kanca; Yigit Karasozen; Odelya Kaufman; Laura Keehan; Shamika Ketkar; Dana Kiley; Gonench Kilich; Eric Klee; Jennefer N. Kohler; Bruce Korf; Susan Korrick; Elijah Kravets; Runjun Kumar; Seema R. Lalani; Brendan C. Lanpher; Ian R. Lanza; Kumarie Latchman; Kimberly LeBlanc; Brendan H. Lee; Miranda Leitheiser; Monkol Lek; Kathleen A. Leppig; Mia Levanto; Richard A. Lewis; Rachel Li; Khurram Liaqat; Pengfei Liu; Nicola Longo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; MayChristine V. Malicdan; Tarun K. K. Mamidi; Shrikant Mane; Lili Mantcheva; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Taylor Maurer; Julie McCarrier; Allyn McConkie-Rosell; Ashley McMinn; Erin McRoy; Hector Rodrigo Mendez; Matthew Might; Mohamad Mikati; Danny Miller; Alexander Miller; Ghayda Mirzaa; Breanna Mitchell; Stephen B. Montgomery; Paolo Moretti; Jennifer Morgan; Marie Morimoto; Tahseen Mozaffar; Lindsay Mulvihill; John J. Mulvihill; Michael Muriello; Sandesh Nagamani; Mariko Nakano-Okuno; Serena Neumann; Thomas J. Nicholas; Donna Novacic; Devin Oglesbee; Carol Oladele; James P. Orengo; Rebecca Overbury; Laura Pace; Stephen C. Pak; J. Carl Pallais; Neil H. Parker; Alex Paul; LéShon Peart; Seth Perlman; Leoyklang Petcharet; Jennifer E. Posey; Lorraine Potocki; Rakale C. Quarells; Aaron Quinlan; Daniel J. Rader; Ramakrishnan Rajagopalan; Deepak A. Rao; Anna Raper; Wendy Raskind; Adriana Rebelo; Chloe M. Reuter; Lynette Rives; Lance H. Rodan; Martin Rodriguez; María José Ortuño Romero; Jill A. Rosenfeld; Elisabeth Rosenthal; Francis Rossignol; Bianca E. Russell; Marla Sabaii; Mohamad Saifeddine; Jacinda B. Sampson; Suzanne Sandmeyer; Timothy Schedl; Jason Schend; Lisa Schimmenti; Kelly Schoch; Jennifer Schymick; Daryl A. Scott; Teodoro Jerves Serrano; Elaine Seto; Mariya Shadrina; Vandana Shashi; Emily Shelkowitz; Susan Shin; Jimann Shin; Saskia Shuman; Edwin K. Silverman; Giorgio Sirugo; Kathy Sisco; Tammi Skelton; Cara Skraban; Carson A. Smith; Kevin S. Smith; Jared Sninsky; Lilianna Solnica-Krezel; null Ben Solomon; Albert R. La Spada; Michele Spencer-Manzon; Rebecca C. Spillmann; Maija-Rikka Steenari; Andrew Stergachis; Joan M. Stoler; Kathleen Sullivan; David A. Sweetser; Barbara N. Pusey Swerdzewski; Virginia Sybert; Holly K. Tabor; Queenie Tan; Arjun Tarakad; Herman Taylor; Mustafa Tekin; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Kayla M. Treat; Brianna Tucker; Rachel A. Ungar; Filippo Pinto e. Vairo; Adeline Vanderver; Andres Vargas; Vasilis Vasiliou; Matt Velinder; James Verbsky; Francesco Vetrini; Eric Vilain; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Emily Wang; Michael F. Wangler; Patricia A. Ward; Isum Ward; Alistair Ward; Stephanie M. Ware; Daniel Wegner; Corrine K. Welt; Mark Wener; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Laurens Wiel; Brandon M. Wilk; Lynne A. Wolfe; Heidi Wood; Kim Worley; Elizabeth A. Worthey; Changrui Xiao; Hua Xu; Shinya Yamamoto; Hui Zhang; Michael Zimmermann; Stephan Zuchner; Shamil R. Sunyaev
bioRxiv
Nat Commun
Nat Commun
Academic Journal
Georgia Pitsava; Megan Hawley; Light Auriga; Ivan de Dios; Arthur Ko; Sofia Marmolejos; Miguel Almalvez; Ingrid Chen; Kaylee Scozzaro; Jianhua Zhao; Rebekah Barrick; Nicholas Ah Mew; Vincent A. Fusaro; Jonathan LoTempio; Matthew Taylor; Luisa Mestroni; Sharon Graw; Dianna Milewicz; Dongchuan Guo; David R. Murdock; Kinga M. Bujakowska; Changrui Xiao; Emmanuèle C. Délot; Seth I. Berger; Eric Vilain
Genet Med
Academic Journal
Carlos F. Mares Beltran; Christina G. Tise; Rebekah Barrick; Annie D. Niehaus; Rebecca Sponberg; Richard Chang; Gregory M. Enns; Jose E. Abdenur
Genes (Basel)
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Academic Journal
Holly Melland; Fabian Bumbak; Anna Kolesnik-Taylor; Elise Ng-Cordell; Abinayah John; Panayiotis Constantinou; Shelagh Joss; Martin Larsen; Christina Fagerberg; Jenny Thies; Frances Emslie; Marjolein Willemsen; Tjitske Kleefstra; Rolf Pfundt; Rebekah Barrick; Richard Chang; Lucy Loong; Majid Alfadhel; Jasper van der Smagt; Mathilde Nizon; Manju Kurian; Daniel J Scott; Joshua J Ziarek; Sarah Gordon; Kate Baker
Academic Journal
Carlos Mares Beltran; Jose Abdenur; Richard Chang; Rebekah Barrick; Rebecca Spongberg; Christina G. Tise; Annie D. Niehaus; Gregory Enns
Molecular Genetics and Metabolism. 138:107455
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[AR] Rebekah Barrick
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