학술논문

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
ㅜ	う u	ぅ	く ku	ぐ gu	す su	ず zu	つ tu	づ du	っ	ぬ nu	ふ hu	ぶ bu	ぷ pu	む mu	ゆ yu	ゅ lyu	る ru
ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	ア a	ァ	カ ka	ガ ga	サ sa	ザ za	タ ta	ダ da		ナ na	ハ ha	バ ba	パ pa	マ ma	ヤ ya	ャ lya	ラ ra	ワ wa	ヮ lwa		ン n
l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

독일어
ä	Ä	ö	Ö	ü	Ü	ß
프랑스어
á	à	Á	À	é	è	É	È	ç	Ç	ê
스페인어
à	á	Á	é	É	í	Í	Ó	ó	Ú	ú	Ñ	ñ	ä	Ä

발행년	- (예 : 2010-2015)

The Somatic Mosaicism across Human Tissues Network

Academic Journal

Tim H. H. Coorens; Ji Won Oh; Yujin Angelina Choi; Nam Seop Lim; Boxun Zhao; Adam Voshall; Alexej Abyzov; Lucinda Antonacci-Fulton; Samuel Aparicio; Kristin G. Ardlie; Thomas J. Bell; James T. Bennett; Bradley E. Bernstein; Thomas G. Blanchard; Alan P. Boyle; Jason D. Buenrostro; Kathleen H. Burns; Fei Chen; Rui Chen; Sangita Choudhury; Harsha V. Doddapaneni; Evan E. Eichler; Gilad D. Evrony; Melissa A. Faith; Thomas G. Fazzio; Robert S. Fulton; Manuel Garber; Nils Gehlenborg; Soren Germer; Gad Getz; Richard A. Gibbs; Raquel G. Hernandez; Fulai Jin; Jan O. Korbel; Dan A. Landau; Heather A. Lawson; Niall J. Lennon; Heng Li; Yan Li; Po-Ru Loh; Gabor Marth; Michael J. McConnell; Ryan E. Mills; Stephen B. Montgomery; Pradeep Natarajan; Peter J. Park; Rahul Satija; Fritz J. Sedlazeck; Diane D. Shao; Hui Shen; Andrew B. Stergachis; Hunter R. Underhill; Alexander E. Urban; Melissa W. VonDran; Christopher A. Walsh; Ting Wang; Tao P. Wu; Chenghang Zong; Eunjung Alice Lee; Flora M. Vaccarino; Richard S. Conroy; Brionna Y. Hair; Walter J. Koroshetz; Roger Little; Amy C. Lossie; Jill A. Morris; Dena C. Procaccini; Wendy Wang; Casey Andrews; Sarah Cody; Milinn Kremitzki; Daofeng Li; Tina Lindsay; Wenjin Zhang; Valerie J. Estela-Pro; Kayla Giancarlo; Melissa Grimm; Azra Hasan; M. Kathryn Leonard; Phoebe McDermott; Mary Pfeiffer; Isabel Sleeman; Stephanie Bohaczuk; Colleen P. Davis; Christian D. Frazar; Kendra Hoekzema; Meng-Fan Huang; Caitlin Jacques; Dana M. Jensen; J. Thomas Kolar; Youngjun Kwon; Kelsey Loy; Yizi Mao; Min-Hwan Sohn; Katherine M. Munson; Shane Neph; Jeffrey Ou; Nancy L. Parmalee; Meranda M. Pham; Jane Ranchalis; Luyao Ren; Adriana E. Sedeño-Cortés; Joshua D. Smith; Melanie Sorensen; Lila Sutherlin; Mitchell R. Vollger; Chia-Lin Wei; Jeffrey M. Weiss; Christina Zakarian; Natalie Y. T. Au; Amy Leonardson; Jiadong Lin; Taralynn Mack; Sean R. McGee; Anna Minkina; Patrick M. Nielsen; Chris Oliveira; Erica Ryke; Tristan Shaffer; Elliott G. Swanson; Elizabeth G. Atkinson; Sravya Bhamidipati; Hsu Chao; Christopher M. Grochowski; Divya Kalra; Ziad Khan; Kavya Kottapalli; Marie-Claude Gingras; Walker Hale; Heer Mehta; Donna M. Muzny; Muchun Niu; Luis F. Paulin; Jeffrey Rogers; Evette Scott; Kimberly Walker; Tao Wu; Viktor Adalsteinsson; Lisa Anderson; Carrie Cibulskis; Laura Domènech; Kiran Garimella; Whitney Hornsby; Steve Huang; Satoshi Koyama; Tetsushi Nakao; Azeet Narayan; Evin Padhi; Constantijn Scharlee; Md Mesbah Uddin; Liying Xue; Zhi Yu; Shadi Zaheri; Ruolin Liu; Ning Stella Li; Hang Su; Derek Albracht; Eddie Belter; Emma Casey; Justin Chen; Yuchen Cheng; Shihua Dong; Qichen Fu; Robert Fulton; John Garza; H. Josh Jang; Sheng Chih Jin; Benjamin K. Johnson; Nahyun Kong; Zefan Li; Shane Liu; Juan F. Macias-Velasco; Elvisa Mehinovic; Benpeng Miao; Theron Palmer; Purva Patel; Mary F. Majewski; Daniel C. Rohrer; Andrew Ruttenberg; Ayush Semwal; Jiawei Shen; Zitian Tang; Chad Tomlinson; Zilan Xin; Christina Missler; Brianne E. Livermore; Jade E. B. Carter; William Driscoll; Uday S. Evani; Heather Geiger; M. Tausif Hasan; Manisha Kher; Rajeeva Musunuri; Giuseppe Narzisi; Nicolas Robine; Alexi Runnels; Mingyun Bae; Michele Berselli; Ann Caplin; Hye-Jung Elizabeth Chun; Niklas L. Engel; William C. Feng; Yan Gao; Dominik Glodzik; Yoo-Jin Jiny Ha; Hu Jin; Sehi L’Yi; Lovelace J. Luquette; Maximilian Marin; Julia Markowski; Dominika Maziec; Huang Neng; Sarah Nicholson; Junseok Park; Qin Qian; Han Qu; Douglas Rioux; William Ronchetti; Andrew Schroeder; Corinne E. Sexton; Yichen Si; Kar-Tong Tan; David Tang; Alexander D. Veit; Vinayak V. Viswanadham; Suenghyun Wang; Kyung Ah Woo; Xi Zeng; Yuwei Zhang; Yifan Zhao; Ying Zhou; Michail Andreopoulos; Shannon Ehmsen; Cesar Ferreyra-Mansilla; Clara TaeHee Kim; David Michaels; Bianca Morris; Brandt A. Bessell; Ingrid Flashpohler; Steve Losh; Torrin L. McDonald; Camille Mumm; Jessica A. Switzenberg; Jinhao Wang; Weichen Zhou; Guanlan Dong; Nazia Hilal; Se-Young Jo; Shayna L. Mallett; Monica Devi Manam; Shulin Mao; Christopher Walsh; Sijing Zhao; Yiling Elaine Huang; Abhiram Natu; Reenal Pattni; Carolin Purman; Bo Zhou; Xiaowei Zhu; Jiayi Luo; Yichi Niu; Rohan Thakur; David A. Weitz; Yang Zhang; Yilei Fu; Michal B. Izydorczyk; Xiaomei Zhan; Xinchang Zheng; Geon Hue Bae; Taejeong Bae; Areum Cho; June Hyug Choi; Hyungbin Chun; Mrunal Dehankar; Yeongjun Jang; Seok-Won Jeong; Min Ji; Mee Sook Jun; Su Rim Kim; Seong Gyu Kwon; Soung-Hoon Lee; Nanda Maya Mali; Arijit Panda; Jung Min Park; JaeEun Shin; Milovan Suvakov; Gabor T. Marth; Brad Demarest; Stephanie Gardiner; Stephanie J. Georges; Yingqi Zhang; Sammantha Avaylon; Alexandre Pellan Cheng; Wei-Yu Chi; Mariela Cortés-López; Andrew R. D’Avino; Husain Danish; Elliot Eton; Foteini Fotopoulo; Saravanan Ganesan; Yiyun Lin; Qing Luo; Levan Mekerishvili; Joe Pelt; Catherine Potenski; Tamara Prieto; Jake Qiu; Ivan Raimondi; Mandeep Singh; Dennis Yuan; John Zinno; Benjamin Costa; Jonathan Evan Shoag; Jimin Tan; Aristotelis Tsirigos; Nisrine T. Jabara; Marta Grońska-Pęski; Emre Caglayan; Hayley Cline; Shelbi E. Gill; Robert Sean Hill; Andrea J. Kriz; Alisa Mo; Daniel Snellings; Justin S. Becker; Aidan H. Burn; Wen-Chih Cheng; Jennifer A. Karlow; Cheuk-Ting Law; Shayna L. Mallet; Carlos Mendez-Dorantes; Khue H. Nguyen; Benno Orr; Andrew J. C. Russell; He Li; Leina Lu; Xiaofeng Zhu; Trishita Basak; Azita Ghodssi; Katrina Newcomer; Yuqing Wang

Nature. 643:47-59

Full Text (Nature Journals) Web of Science Scopus JCR 저널정보 Find it@PNU

Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association

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 K.K.; 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., Jr. ; 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 January 2026

Full Text (ScienceDirect 종량제) Web of Science JCR 저널정보 Find it@PNU

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Academic Journal

Maria Carla Borroto; Heena Patel; Siddharth Srivastava; Lindsay C. Swanson; Boris Keren; Sandra Whalen; Cyril Mignot; Xiaodong Wang; Qian Chen; Jill A. Rosenfeld; Scott McLean; Rebecca O. Littlejohn; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Lisa Emrick; Ruben Attali; Gaetan Lesca; Cecile Acquaviva-Bourdain; Catherine Sarret; Laurie H. Seaver; Konrad Platzer; Tobias Bartolomaeus; Cornelia Wünsch; Susann Fischer; Ana Maria Rodriguez Barreto; Jorge L. Granadillo; Elisabeth Schreiner; Theresa Brunet; Ulrich A. Schatz; Isabelle Thiffault; Sureni V. Mullegama; Jacques L. Michaud; Fadi F. Hamdan; Elsa Rossignol; Philippe M. Campeau

Pediatric Neurology. 160:45-53

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

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

Full Text (ProQuest) Full Text (ProQuest) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Open Access (EBSCO) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

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)

Full Text (ScienceDirect 종량제) Web of Science Scopus JCR 저널정보 Find it@PNU

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Academic Journal

Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H.; La Spada, Albert R.; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; Mcminn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; 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.; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; Macrae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Pardo-Villamizar, Carlos A.; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A.; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M.; Eng, Christine M.; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Sayer, Dana; Rader, Daniel J.; Wegner, Daniel; Miller, Danny E.; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; Velasq, Francisco Bustos; 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.; Wohler, Elizabeth; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E.; Mcroy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Vairo, Filippo Pinto E.; 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.; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Stoler, Joan M.; Jen, Joanna; Gonzalez, Joanna M.; Phillips, John A.; Carey, John; Gorzynski, John E.; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martinez-Agosto, Julian A.; Hoover-Fong, Julie; Mccarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A.; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; Leblanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H.; Keehan, Laura; Cobban, Laurel A.; Blieden, Lauren; Briere, Lauren C.; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F.; Petcharet, Leoyklang; Peart, LeShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A.; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J.; Balwani, Manisha; Delgado, Margaret; Romero, Maria Jose Ortuno; Silva, Maria Paula; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, 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 T.; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; 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; Mcmullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Evard, Rachel; Li, Rachel; Quarells, Rakale C.; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Blackburn, Reaford; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Chang, Richard; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario, I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R.; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R.; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Montgomery, Stephen B.; Pak, Stephen C.; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D.; Mamidi, Tarun K. K.; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; 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; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan; Marth, Gabor T.

GENOME MEDICINE; OCT 21 2025, 17 1, p127 20p.

EBSCOHost PDF Full Text (ProQuest) Full Text (ProQuest) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Scopus Web of Science JCR 저널정보 Find it@PNU

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Academic Journal

Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner

Am. J. Hum. Genet. 111, 96-118 (2024)

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Academic Journal

Acosta, Maria T.; Adams, David R.; Afzali, Ben; Al-Beshri, Ali; Allenspach, Eric; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Baldwin, Erin; Bale, Jim; Balton, Elsa; 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.; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Callaway, Kaitlin; Carey, John; Carvalho, George; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Corner, Brian; Corona, Rosario I.; Craigen, William J.; Crouse, Andrew B.; Cuddapah, Vishnu; D’Souza, Precilla; Dai, Hongzheng; Dargie, Nitsuh K.; Darr, Kahlen; Dasari, Surendra; Davis, Joie; Delgado, Margaret; Dell’Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douglas, Jessica; Douine, Emilie D.; Earl, Dawn; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Ezell, Kimberly; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Ganetzky, Rebecca; Glanton, Emily; Glass, Ian; Goddard, Page C.; Gonzalez, Joanna M.; 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; Hurst, Anna; Introne, Wendy; Jarvik, Gail P.; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kanca, Oguz; Karasozen, Yigit; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Klee, Eric; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korf, Bruce; Korrick, Susan; Krakow, Deborah; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; LeBlanc, Kimberly; Lee, Brendan H.; Leppig, Kathleen A.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McConkie-Rosell, Allyn; McMinn, Ashley; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Mitchell, Breanna; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Mulvihill, Lindsay; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Parker, Neil H.; Peart, LéShon; Petcharet, Leoyklang; Phillips, John A., III; e Vairo, Filippo Pinto; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rader, Daniel J.; Rajagopalan, Ramakrishnan; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Reuter, Chloe M.; Rives, Lynette; Rodan, Lance H.; Rodriguez, Martin; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schimmenti, Lisa; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sirugo, Giorgio; Sisco, Kathy; Skelton, Tammi; Skraban, Cara; Smith, Carson A.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sunyaev, Shamil R.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz-Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Wood, Heidi; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Jangam, Sharayu V. ; von Hardenberg, Sandra ; Bergmann, Anke ; Richter, Manuela Friederike ; Rydzanicz, Malgorzata ; Ploski, Rafal ; Stembalska, Agnieszka ; Chung, Wendy K. ; Hernan, Rebecca R. ; Lim, Foong Y. ; Brunet, Theresa ; Syrbe, Steffen ; Keren, Boris ; Heide, Solveig ; Murdock, David R. ; Xia, Fan ; Dawson, Brian ; Narayanan, Vinodh ; Graves, Hillary K. ; Bacino, Carlos ; Lee, Brendan

In Genetics in Medicine April 2025 27(4)

Full Text (ScienceDirect 종량제) Web of Science Scopus JCR 저널정보 Find it@PNU

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

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

Full Text (ScienceDirect 종량제) Web of Science Scopus JCR 저널정보 Find it@PNU

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Academic Journal

Lane Fitzsimmons; Maria T. Acosta; David R. Adams; Ben Afzali; Ali Al-Beshri; Eric Allenspach; Aimee Allworth; Raquel L. Alvarez; Justin Alvey; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Erin Baldwin; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Nicholas Borja; Lorenzo Botto; Lauren C. Briere; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; Kaitlin Callaway; John Carey; George Carvalho; Thomas Cassini; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Brian Corner; Rosario I. Corona; William J. Craigen; Andrew B. Crouse; Vishnu Cuddapah; Precilla D’Souza; Hongzheng Dai; Kahlen Darr; Surendra Dasari; Joie Davis; Margaret Delgado; Esteban C. Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Jessica Douglas; Emilie D. Douine; Dawn Earl; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Kimberly Ezell; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Jiayu Fu; William A. Gahl; Rebecca Ganetzky; Emily Glanton; Ian Glass; Page C. Goddard; Joanna M. Gonzalez; Andrea Gropman; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yan Huang; Anna Hurst; Wendy Introne; Gail P. Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Oguz Kanca; Yigit Karasozen; Shamika Ketkar; Dana Kiley; Gonench Kilich; Eric Klee; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Bruce Korf; Susan Korrick; Deborah Krakow; Elijah Kravets; Seema R. Lalani; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kumarie Latchman; Kimberly LeBlanc; Brendan H. Lee; Kathleen A. Leppig; Richard A. Lewis; Pengfei Liu; Nicola Longo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Allyn McConkie-Rosell; Ashley McMinn; Matthew Might; Mohamad Mikati; Danny Miller; Ghayda Mirzaa; Breanna Mitchell; Paolo Moretti; Marie Morimoto; John J. Mulvihill; Lindsay Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; Serena Neumann; Dargie Nitsuh; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Neil H. Parker; LéShon Peart; Leoyklang Petcharet; John A. Phillips; Filippo Pinto e Vairo; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; 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; Jill A. Rosenfeld; Elizabeth Rosenthal; Francis Rossignol; Maura Ruzhnikov; Marla Sabaii; Jacinda B. Sampson; Timothy Schedl; Lisa Schimmenti; Kelly Schoch; Daryl A. Scott; Elaine Seto; Vandana Shashi; Emily Shelkowitz; Sam Sheppeard; Jimann Shin; Edwin K. Silverman; Giorgio Sirugo; Kathy Sisco; Tammi Skelton; Cara Skraban; Carson A. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Andrew Stergachis; Joan M. Stoler; Kathleen Sullivan; Shamil R. Sunyaev; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie Tan; Arjun Tarakad; Herman Taylor; Mustafa Tekin; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Heidi Wood; Kim Worley; Shinya Yamamoto; Zhe Zhang; Stephan Zuchner; Brett Beaulieu-Jones; Shilpa Nadimpalli Kobren

BioData Min
BioData Mining, Vol 18, Iss 1, Pp 1-16 (2025)

EBSCOHost PDF Full Text (ProQuest) Full Text (ProQuest) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

Patterns and Trajectories of Behavioral and Neuropsychiatric Symptoms in Frontotemporal Dementia and Primary Progressive Aphasia

Academic Journal

Marth, Lena; Martinez-Murcia, Francisco J.; Gorriz-Saez, Juan-Manuel; Denecke, Jannis; Ewers, Michael; Prix, Catharina; Stockbauer, Anna Christina; Bernhardt, Alexander Maximilian; Wagemann, Olivia; Wlasich, Elisabeth; Kustermann, Julia; Peters, Oliver; Hellmann-Regen, Julian; Droste zu Senden, Louise; Priller, Josef; Spruth, Eike Jakob; Spottke, Annika; Asperger, Hannah; Schroeck, Friederike; Gamez, Anna; Schneider, Anja; Fliessbach, Klaus; Dinter, Elisabeth; Linn, Jennifer; Guenther, Rene; Wiltfang, Jens; Schott, Bjoern H.; Baehr, Mathias; Zerr, Inga; Floeel, Agnes; Malinowski, Robert; Buerger, Katharina; Janowitz, Daniel; Duzel, Emrah; Glanz, Wenzel; Luesebrink, Falk; Teipel, Stefan J.; Kilimann, Ingo; Prudlo, Johannes; Hermann, Andreas; Synofzik, Matthis; Mengel, David; Beichert, Lukas; Mueller, Doreen; Petzold, Gabor C.; Yakupov, Renat; Hetzer, Stefan; Dechent, Peter; Scheffler, Klaus; Schoenecker, Sonja; Levin, Johannes

NEUROLOGY; FEB 24 2026, 106 4, pe214510 13p.

Full Text (LWW total - Ovid) Web of Science JCR 저널정보 Find it@PNU

P257: ClinVar-based reanalysis in the UDN cohort

Academic Journal

Ward, Alistair; Cooperstein, Isabelle; Marth, Gabor; Kobren, Shilpa

Genetics in Medicine Open. 3

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Full Text (ScienceDirect O/A) Scopus Find it@PNU

O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts

Academic Journal

Cooperstein, Isabelle; Ward, Alistair; Moore, Barry; Marth, Gabor

Genetics in Medicine Open. 3

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Full Text (ScienceDirect O/A) Scopus Find it@PNU

Macrocephaly and developmental delay caused by missense variants in RAB5C

Academic Journal

Klaas Koop; Weimin Yuan; Federico Tessadori; Wilmer R Rodriguez-Polanco; Jeremy Grubbs; Bo Zhang; Matt Osmond; Gail Graham; Sarah Sawyer; Erin Conboy; Francesco Vetrini; Kayla Treat; Rafal Płoski; Victor Murcia Pienkowski; Anna Kłosowska; Elizabeth Fieg; Joel Krier; Coralie Mallebranche; Ziegler Alban; Kimberly A Aldinger; Deborah Ritter; Ellen Macnamara; Bonnie Sullivan; John Herriges; Joseph T Alaimo; Catherine Helbig; Colin A Ellis; Clare van Eyk; Jozef Gecz; Daniel Farrugia; Ikeoluwa Osei-Owusu; Lesley Adès; Marie-Jose van den Boogaard; Sabine Fuchs; Jeroen Bakker; Karen Duran; Zachary D Dawson; Anika Lindsey; Huiyan Huang; Dustin Baldridge; Gary A Silverman; Barth D Grant; David Raizen; Maria T Acosta; Margaret Adam; David R Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A Ashley; Mahshid S Azamian; Carlos A Bacino; Guney Bademci; Ashok Balasubramanyam; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H Beggs; Edward Behrens; Gill Bejerano; Hugo Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A Bernstein; Gerard T Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A Burke; Lindsay C Burrage; Manish J Butte; Peter Byers; William E Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D Clark; Terra R Coakley; Laurel A Cobban; Joy D Cogan; Matthew Coggins; F Sessions Cole; Heather A Colley; Cynthia M Cooper; Heidi Cope; William J Craigen; Andrew B Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G Dayal; Matthew Deardorff; Esteban C Dell’Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L Doss; Emilie D Douine; Laura Duncan; Dawn Earl; David J Eckstein; Lisa T Emrick; Christine M Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L Fieg; Laurie C Findley; Paul G Fisher; Brent L Fogel; Irman Forghani; William A Gahl; Ian Glass; Bernadette Gochuico; Rena A Godfrey; Katie Golden-Grant; Madison P Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M Hisama; Ingrid A Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N Kobren; Isaac S Kohane; Jennefer N Kohler; Deborah Krakow; Donna M Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R Lalani; Byron Lam; Christina Lam; Grace L LaMoure; Brendan C Lanpher; Ian R Lanza; Kimberly LeBlanc; Brendan H Lee; Hane Lee; Roy Levitt; Richard A Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K Loo; Joseph Loscalzo; Richard L Maas; Ellen F Macnamara; Calum A MacRae; Valerie V Maduro; Rachel Mahoney; Bryan C Mak; May Christine V Malicdan; Laura A Mamounas; Teri A Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A Martin; Martin G Martin; Julian A Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T McCray; Elisabeth McGee; Heather Mefford; J Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M Moretti; John J Mulvihill; Mariko Nakano-Okuno; Stan F Nelson; John H Newman; Sarah K Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P Orengo; Laura Pace; Stephen C Pak; J Carl Pallais; Christina G S Palmer; Jeanette C Papp; Neil H Parker; John A Phillips III; Jennifer E Posey; Lorraine Potocki; Barbara N Pusey; Aaron Quinlan; Wendy Raskind; Archana N Raja; Deepak A Rao; Anna Raper; Genecee Renteria; Chloe M Reuter; Lynette Rives; Amy K Robertson; Lance H Rodan; Jill A Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B Sampson; Mario Saporta; C Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A Scott; Vandana Shashi; Jimann Shin; Rebecca Signer; Edwin K Silverman; Janet S Sinsheimer; Kathy Sisco; Edward C Smith; Kevin S Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C Spillmann; Joan M Stoler; Jennifer A Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A Sweetser; Virginia Sybert; Holly K Tabor; Amelia L M Tan; Queenie K-G Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J Tifft; Camilo Toro; Alyssa A Tran; Brianna M Tucker; Tiina K Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P Vogel; Colleen E Wahl; Stephanie Wallace; Nicole M Walley; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F Wangler; Patricia A Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T Wheeler; Jordan Whitlock; Lynne A Wolfe; Jeremy D Woods; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Gijs van Haaften; Holger Rehmann; Tim Schedl; Peter van Hasselt

Hum Mol Genet

EBSCOHost PDF Full Text (OUP Near Archive) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Academic Journal

Acosta, Maria T.; Adams, David R.; Raquel; Alvarez, 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; Carvhalo Neto, George D.; 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, Audrey Stephannie; 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; Moore, Ryan M.; 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; Huang, Yue ; Jay, Kristy L. ; Yen-Wen Huang, Alden ; Jangam, Sharayu V. ; Chorin, Odelia ; Rothschild, Annick ; Barel, Ortal ; Mariani, Milena ; Iascone, Maria ; Xue, Han ; Huang, Jing ; Mignot, Cyril ; Keren, Boris ; Saillour, Virginie ; Mah-Som, Annelise Y. ; Sacharow, Stephanie ; Rajabi, Farrah ; Costin, Carrie ; Kanca, Oguz ; Martinez-Agosto, Julian A.

In Genetics in Medicine November 2024 26(11)

Full Text (ProQuest) Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science Scopus JCR 저널정보 Find it@PNU

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Academic Journal

Eva Niggl; Arjan Bouman; Lauren C. Briere; Remco M. Hoogenboezem; Ilse Wallaard; Joohyun Park; Jakob Admard; Martina Wilke; Emilio D.R.O. Harris-Mostert; Minetta Elgersma; Jennifer Bain; Meena Balasubramanian; Siddharth Banka; Paul J. Benke; Miriam Bertrand; Alyssa E. Blesson; Jill Clayton-Smith; Jamie M. Ellingford; Madelyn A. Gillentine; Dana H. Goodloe; Tobias B. Haack; Mahim Jain; Ian Krantz; Sharon M. Luu; Molly McPheron; Candace L. Muss; Sarah E. Raible; Nathaniel H. Robin; Michael Spiller; Susan Starling; David A. Sweetser; Isabelle Thiffault; Francesco Vetrini; Dennis Witt; Emily Woods; Dihong Zhou; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Ben Afzali; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey; Alana Grajewski; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yan Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Emerald Kaitryn; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Matthew Might; Danny Miller; Ghayda Mirzaa; Eva Morava; Paolo Moretti; Marie Morimoto; John J. Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Jeanette C. Papp; Neil H. Parker; Leoyklang Petcharet; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Elizabeth Rosenthal; Francis Rossignol; Maura Ruzhnikov; Marla Sabaii; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Elaine Seto; Prashant Sharma; Vandana Shashi; Emily Shelkowitz; Sam Sheppeard; Jimann Shin; Edwin Silverman; Janet Sinsheimer; Kathy Sisco; Edward Smith; Kevin Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca Spillmann; Andrew Stergachis; Joan Stoler; Kathleen Sullivan; Jennifer Sullivan; Shirley Sutton; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Shinya Yamamoto; Zhe Zhang; Stephan Zuchner; Ype Elgersma; Annelot C.M. van Esbroeck

Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E, Bouman, A, Briere, L C, Hoogenboezem, R M, Wallaard, I, Park, J, Admard, J, Wilke, M, Harris-Mostert, E D R O, Elgersma, M, Balasubramanian, M, Banka, S, Benke, P J, Bertrand, M, Blesson, A E, Clayton-Smith, J, Ellingford, J M, Gillentine, M A, Goodloe, D H, Haack, T B, Jain, M, Krantz, I, Luu, S M, McPheron, M, Muss, C L, Raible, S E, Robin, N H, Sweetser, D A, Thiffault, I, Vetrini, F, Witt, D, Woods, E, Zhou, D, Elgersma, Y & van Esbroeck, A C M 2023, 'HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 8, pp. 1414-1435. https://doi.org/10.1016/j.ajhg.2023.07.005

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Academic Journal

Manuela Morleo; Rossella Venditti; Evangelos Theodorou; Lauren C. Briere; Marion Rosello; Alfonsina Tirozzi; Roberta Tammaro; Nour Al-Badri; Frances A. High; Jiahai Shi; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner; Vincenzo Nigro; Annalaura Torella; Carmine Spampanato; Michele Pinelli; Sandro Banfi; Alessandra Varavallo; Angelo Selicorni; Milena Mariani; Marta Massimello; Cecilia Daolio; Valeria Capra; Andrea Accogli; Marcello Scala; Vincenzo Leuzzi; Francesca Nardecchia; Serena Galosi; Mario Mastrangelo; Donatella Milani; Giuseppina Vitiello; Giulio Piluso; Corrado Romano; Pinella Failla; Donatella Greco; Chiara Pantaleoni; Claudia Ciaccio; Stefano D’Arrigo; Nicola Brunetti Pierri; Giancarlo Parenti; Antonietta Coppola; Teresa Mattina; Marcella Zollino; Simona Amenta; Albina Tummolo; Claudia Santoro; Anna Grandone; Daniele De Brasi; Antonio Varone; Livia Garavelli; Carla Marini; Stefania Bigoni; Carmelo Piscopo; Antonio Trabacca; Marta De Rinaldis; Angela Peron; Elena Putti; Luigi Ferrante; Viviana Cetrangolo; Melissa A. Walker; Romano Tenconi; Maria Iascone; Davide Mei; Renzo Guerrini; Jasper van der Smagt; Hester Y. Kroes; Koen L.I. van Gassen; Muhammad Bilal; Muhammad Umair; Veronica Pingault; Tania Attie-Bitach; Jeannine Amiel; Resham Ejaz; Lance Rodan; Pankaj B. Agrawal; Filippo Del Bene; Brunella Franco

American Journal of Human Genetics

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Open Access (OpenAIRE) Web of Science Scopus JCR 저널정보 Find it@PNU

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Academic Journal

Acosta, Maria T.; Adams, David R.; Afzali, Ben; Al-Beshri, Ali; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; 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; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Callaway, Kaitlin; Carey, John; Carvalho, George; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Corner, Brian; Corona, Rosario I.; Craigen, William J.; Crouse, Andrew B.; Cuddapah, Vishnu; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Delgado, Margaret; Dell’Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douglas, Jessica; Douine, Emilie D.; Earl, Dawn; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Ganetzky, Rebecca; Glanton, Emily; Glass, Ian; Goddard, Page C.; Gonzalez, Joanna M.; 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; Hurst, Anna; Introne, Wendy; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Marie, Orpa Jean; Jobanputra, Vaidehi; Kaitryn, Emerald; Kanca, Oguz; Karasozen, Yigit; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korf, Bruce; Korrick, Susan; Krakow, Deborah; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; LeBlanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McConkie-Rosell, Allyn; McCray, Alexa T.; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Parker, Neil H.; Peart, LéShon; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rajagopalan, Ramakrishnan; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rodriguez, Martin; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sisco, Kathy; Skelton, Tammi; Skraban, Cara; Smith, Carson A.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; 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.; Wood, Heidi; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Findley, Laura ; Ni, Weihong ; Sinsheimer, Janet S. ; Cole, F. Session ; Esteves, Cecilia ; Newman, John H. ; Mokry, Jill R.

In Genetics in Medicine October 2024 26(10)

Full Text (ProQuest) Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science Scopus JCR 저널정보 Find it@PNU

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Academic Journal

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; 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; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; 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, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cope, Heidi; Corner, Brian; 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.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; 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.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; 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; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; 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; Maravilla, Kenneth; 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; Mefford, Heather; Lawrence Merritt, J.; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Carl Pallais, J.; 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.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Ron Scott, C.; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; 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; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; 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; Legro, Nicole R. ; Bowman, Angela ; Ugur, Berrak ; Jackstadt, Madelyn M. ; Shriver, Leah P. ; Patti, Gary J. ; Zhang, Bo ; Feng, Wenjia ; McAdow, Anthony R. ; Goddard, Pagé ; Jensen, Tanner ; Fresard, Laure ; Alvarez, Raquel ; McCormack, Colleen ; Holt, James M. ; Worthey, Elizabeth A. ; Montgomery, Stephen B. ; Postlethwait, John ; De Camilli, Pietro ; Solnica-Krezel, Lila

In Genetics in Medicine September 2024 26(9)

Full Text (ProQuest) Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science Scopus JCR 저널정보 Find it@PNU

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Academic Journal

Burak Tepe; Erica L. Macke; Marcello Niceta; Monika Weisz Hubshman; Oguz Kanca; Laura Schultz-Rogers; Yuri A. Zarate; G. Bradley Schaefer; Jorge Luis Granadillo De Luque; Daniel J. Wegner; Benjamin Cogne; Brigitte Gilbert-Dussardier; Xavier Le Guillou; Eric J. Wagner; Lynn S. Pais; Jennifer E. Neil; Ganeshwaran H. Mochida; Christopher A. Walsh; Nurit Magal; Valerie Drasinover; Mordechai Shohat; Tanya Schwab; Chris Schmitz; Karl Clark; Anthony Fine; Brendan Lanpher; Ralitza Gavrilova; Pierre Blanc; Lydie Burglen; Alexandra Afenjar; Dora Steel; Manju A. Kurian; Prab Prabhakar; Sophie Gößwein; Nataliya Di Donato; Enrico S. Bertini; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Mariko Nakano-Okuno; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Deepak A. Rao; Anna Raper; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica- Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.- G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B. Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Marco Tartaglia; Eric W. Klee

The American Journal of Human Genetics. 110:774-789

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science Scopus JCR 저널정보 Find it@PNU

부산대학교 도서관

전자자료 공정이용 안내

공정이용 지침

불공정 이용 사례

위반 시 제재

부산대학교 도서관

학술논문

전자자료 공정이용 안내

공정이용 지침

불공정 이용 사례

위반 시 제재

메일 발송