Kaya Bilgüvar
2005–2025 年に発表
- 85
- 論文数
- 24,803
- 被引用数
- 64
- h 指数
- 84
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine42.9%
- Biochemistry, Genetics and Molecular Biology36.2%
- Neuroscience11.1%
- Immunology and Microbiology5.5%
- Psychology1.3%
- Agricultural and Biological Sciences0.4%
- その他2.6%
トピック
- COVID-19 Clinical Research Studies5.2%
- SARS-CoV-2 and COVID-19 Research4.7%
- Genetics and Neurodevelopmental Disorders3.7%
- Genomics and Rare Diseases3.2%
- Autism Spectrum Disorder Research3%
- Long-Term Effects of COVID-192.7%
- その他77.5%
共著者
- Murat Günel28
- Shrikant Mane24
- Richard P. Lifton16
- Katsuhito Yasuno15
- Ahmet Okay Çağlayan14
- Jungmin Choi12
- Sheng Chih Jin12
- E. Zeynep Erson‐Omay11
- A. Gulhan Ercan‐Sencicek10
- Christopher Castaldi10
- Ketu Mishra-Gorur10
- Octavian Henegariu9
- Akdes Serin Harmancı8
- Carol Nelson‐Williams8
- Daniel Durán8
- Hande Kaymakçalan8
- Jacob F. Baranoski8
- James Knight8
- Mark W. Youngblood8
- Tanyeri Barak8
- Victoria Clark8
- Angeliki Louvi7
- Beyhan Tüysüz7
- Francesc López‐Giráldez7
全論文
- Autoantibodies against type I IFNs in patients with life-threatening COVID-19
著者: Paul Bastard, Lindsey B. Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Yu Zhang, Karim Dorgham, Quentin Philippot, Jérémie Rosain, Vivien Béziat, Jérémy Manry, Elana Shaw, Liis Haljasmägi, Pärt Peterson, Lazaro Lorenzo, Lucy Bizien, Sophie Trouillet‐Assant, Kerry Dobbs, Adriana A. de Jesus, Alexandre Bélot, Anne Kallaste, Émilie Catherinot, Yacine Tandjaoui-Lambiotte, Jérémie Le Pen, Gaspard Kerner, Benedetta Bigio, Yoann Seeleuthner, Rui Yang, Alexandre Bolze, András N. Spaan, Ottavia M. Delmonte, Michael S. Abers, Alessandro Aiuti, Giorgio Casari, Vito Lampasona, Lorenzo Piemonti, Fabio Ciceri, Kaya Bilgüvar, Richard P. Lifton, Marc Vasse, David M. Smadja, Mélanie Migaud, Jérôme Hadjadj, Benjamin Terrier, Darragh Duffy, Lluís Quintana‐Murci, Diederik van de Beek, Lucie Roussel, Donald C. Vinh, Stuart G. Tangye, Filomeen Haerynck, David Dalmau, Javier Martínez‐Picado, Petter Brodin, Michel C. Nussenzweig, Stéphanie Boisson‐Dupuis, Carlos Rodríguez-Gallego, Guillaume Vogt, Trine H. Mogensen, Andrew J. Oler, Jingwen Gu, Peter D. Burbelo, Jeffrey I. Cohen, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Paolo Bonfanti, Patrick Rossignol, Julien Mayaux, Frédéric Rieux‐Laucat, Eystein S. Husebye, Francesca Fusco, Matilde Valeria Ursini, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quirós-Roldán, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, Gian Luigi Marseglia, Xavier Duval, Jade Ghosn, HGID Lab, NIAID-USUHS Immune Response to COVID Group, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, COVID Human Genetic Effort, John S. Tsang, Raphaela Goldbach‐Mansky, Kai Kisand, Michail S. Lionakis, Anne Puel, Shen‐Ying Zhang, Steven M. Holland, Guy Gorochov, Emmanuelle Jouanguy ほか 652 名 - Science 2020 被引用: 2,872
- Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
著者: Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada‐Vélez, Jie Chen, Masato Ogishi, Ira K. D. Sabli, Stephanie Hodeib, Cecilia B. Korol, Jérémie Rosain, Kaya Bilgüvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Rui Yang, Andrés A. Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet‐Madin, Karim Dorgham, Nikaïa Smith, William M. Schneider, Brandon S. Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna‐Lena Neehus, Aileen Ugurbil, Aurélien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jérémy Manry, Cécile Masson, Yohann Schmitt, Agatha Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F. Alosaimi, Davood Mansouri, Haya Al‐Saud, Fahd Al‐Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Paolo Bonfanti, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quirós-Roldán, Camillo Rossi, Andrew J. Oler, Miranda F. Tompkins, Camille Alba, Isabelle Vandernoot, Jean‐Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler‐Palacín, Andrea Martín-Nalda, Roger Colobrán, Pierre‐Emmanuel Morange, Sevgi Keleş, Fatma Çölkesen, Tayfun Özçelık, Kadriye Kart Yaşar, Sevtap Şenoğlu, Şemsi̇ Nur Karabela, Carlos Rodríguez‐Gallego, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, Cédric Laouenan, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank ほか 646 名 - Science 2020 被引用: 2,413
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
著者: Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah U. Morton, Steven R. DePalma, Xue Zeng, Hongjian Qi, Wen-I Chang, Michael C. Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilgüvar, Shrikant Mane, Stephan Sanders, Seema Mital, Mark W. Russell, J. William Gaynor, John Deanfield, Anna Giardini, George A. Porter, Deepak Srivastava, Cecilia Lo, Yufeng Shen, W. Scott Watkins, Mark Yandell, H. Joseph Yost, Martin Tristani‐Firouzi, Jane W. Newburger, Amy E. Roberts, Richard Kim, Hongyu Zhao, Jonathan R. Kaltman, Elizabeth Goldmuntz, Wendy K. Chung, Jonathan G. Seidman, Bruce D. Gelb, Christine E. Seidman, Richard P. Lifton, Martina Brueckner - Nature Genetics 2017 被引用: 928
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
著者: Stephan Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein, Michael F. Walker, G Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, John D. Overton, Robert Bjornson, Nicholas Carriero, Kyle A. Meyer, Kaya Bilgüvar, Shrikant Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State - Nature 2012 被引用: 2,183
- X-linked recessive TLR7 deficiency in 1% of men under 60 years old with life-threatening COVID-19
著者: Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilgüvar, Yu Zhang, Anna‐Lena Neehus, Masato Ogishi, Simon J. Pelham, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Pere Soler‐Palacín, Roger Colobrán, Andrea Martín-Nalda, Jacques G. Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, COVID Human Genetic Effort, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis ほか 13 名 - Science Immunology 2021 被引用: 420
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
著者: Jason Homsy, Samir Zaidi, Yufeng Shen, James S. Ware, Kaitlin E. Samocha, Konrad J. Karczewski, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Anna Giardini, George A. Porter, Richard Kim, Kaya Bilgüvar, Francesc López‐Giráldez, Irina Tikhonova, Shrikant Mane, Angela Romano-Adesman, Hongjian Qi, Badri N. Vardarajan, Lijiang Ma, Mark J. Daly, Amy E. Roberts, Mark W. Russell, Seema Mital, Jane W. Newburger, J. William Gaynor, Roger E. Breitbart, Ivan Iossifov, Michael Ronemus, Stephan Sanders, Jonathan R. Kaltman, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Elizabeth Goldmuntz, Richard P. Lifton, Christine E. Seidman, Wendy K. Chung - Science 2015 被引用: 910
- Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
著者: Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordán, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurélie Bisiaux, Wei‐Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilgüvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andrés A. Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada‐Vélez, Francesca Pala, Tomi Lazarov, Romain Lévy, Anna‐Lena Neehus, Jérémie Rosain, Jessica N. Peel, Yi‐Hao Chan, Marie‐Paule Morin, Rosa Pino, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victòria Fumadó, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez‐Tur, Shuibing Chen, Todd Evans, Frédéric Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, CoV-Contact Cohort§, COVID Human Genetic Effort¶, Qiang Pan‐Hammarström, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho‐Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi D. Notarangelo, Vivien Béziat, Rebeca Pérez de Diego, Carlos Rodríguez‐Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keleş, Élie Haddad, Laurent Abel, Alexandre Bélot, Lluís Quintana‐Murci ほか 254 名 - Science 2022 被引用: 167
- Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
著者: Dora C. Tărlungeanu, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Rybiczka-Tešulov, Emanuela Morelli, Fatma Müjgan Sönmez, Kaya Bilgüvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben‐Omran, Meral Topçu, Avner Schlessinger, Cesare Indiveri, Kent E. Duncan, Ahmet Okay Çağlayan, Murat Günel, Joseph G. Gleeson, Gaia Novarino - Cell 2016 被引用: 370
- Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO
著者: Victoria Clark, E. Zeynep Erson‐Omay, Akdes Serin, Jun Yin, Justin Cotney, Koray Özduman, Timuçin Avşar, Jie Li, Phillip B. Murray, Octavian Henegariu, Saliha Yılmaz, Jennifer Moliterno Günel, Geneive Carrión-Grant, Baran Yılmaz, Conor Grady, Bahattin Tanrıkulu, Mehmet Bakırcıoğlu, Hande Kaymakçalan, Ahmet Okay Çağlayan, Leman Sencar, Emre Ceyhun, Ahmet Atik, Yaşar Bayri, Hanwen Bai, Luis Kolb, Ryan Hebert, Sacit Bulent Omay, Ketu Mishra-Gorur, Murim Choi, John D. Overton, Eric C. Holland, Shrikant Mane, Matthew W. State, Kaya Bilgüvar, Joachim M. Baehring, Philip H. Gutin, Joseph M. Piepmeier, Alexander O. Vortmeyer, Cameron Brennan, M. Necmettin Pamir, Türker Kılıç, Richard P. Lifton, James P. Noonan, Katsuhito Yasuno, Murat Günel - Science 2013 被引用: 904
- Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas
著者: Mark W. Youngblood, Daniel Durán, Julio D. Montejo, Chang Li, Sacit Bulent Omay, Koray Özduman, Amar H. Sheth, Amy Zhao, Evgeniya Tyrtova, Danielle Miyagishima, Elena I. Fomchenko, Christopher S. Hong, Victoria Clark, Maximilien Riche, Matthieu Peyre, Julien Boetto, Sadaf Sohrabi, Sarah Koljaka, Jacob F. Baranoski, James Knight, Hongda Zhu, M. Necmettin Pamir, Timuçin Avşar, Türker Kılıç, Johannes Schramm, Marco Timmer, Roland Goldbrunner, Ye Gong, Yaşar Bayri, Nduka Amankulor, Ronald L. Hamilton, Kaya Bilgüvar, Irina Tikhonova, Patrick Tomak, Anita Hüttner, Matthias Simon, Boris Krischek, Michel Kalamarides, E. Zeynep Erson‐Omay, Jennifer Moliterno, Murat Günel - Journal of neurosurgery 2019 被引用: 182
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
著者: Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2015 被引用: 688
- AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma
著者: Ryan D. Chow, Christopher D. Guzman, Guangchuan Wang, Florian Schmidt, Mark W. Youngblood, Lupeng Ye, Youssef Errami, Matthew B. Dong, Michael A. Q. Martinez, Sensen Zhang, Paul Renauer, Kaya Bilgüvar, Murat Günel, Phillip A. Sharp, Feng Zhang, Randall J. Platt, Sidi Chen - Nature Neuroscience 2017 被引用: 247
- Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas
著者: Victoria Clark, Akdes Serin Harmancı, Hanwen Bai, Mark W. Youngblood, Tong Ihn Lee, Jacob F. Baranoski, A. Gulhan Ercan‐Sencicek, Brian J. Abraham, Abraham S. Weintraub, Denes Hnisz, Matthias Simon, Boris Krischek, E. Zeynep Erson‐Omay, Octavian Henegariu, Geneive Carrión-Grant, Ketu Mishra-Gorur, Daniel Durán, Johanna Goldmann, Johannes Schramm, Roland Goldbrunner, Joseph M. Piepmeier, Alexander O. Vortmeyer, Jennifer Moliterno Günel, Kaya Bilgüvar, Katsuhito Yasuno, Richard A. Young, Murat Günel - Nature Genetics 2016 被引用: 357
- Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
著者: Bridget Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, C Girod, Jonathan C. Weissler, John Fitzgerald, Corey D. Kershaw, Julia Klesney‐Tait, Yolanda Mageto, Jerry W. Shay, Weizhen Ji, Kaya Bilgüvar, Shrikant Mane, Richard P. Lifton, Christine Kim Garcia - Nature Genetics 2015 被引用: 467
- Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
著者: Sheng Chih Jin, Weilai Dong, Adam J. Kundishora, Shreyas Panchagnula, Andrés Moreno-De-Luca, Charuta G. Furey, August Allocco, Rebecca L. Walker, Carol Nelson‐Williams, Hannah Smith, Ashley Dunbar, Sierra Conine, Qiongshi Lu, Xue Zeng, Michael C. Sierant, James Knight, William Sullivan, Phan Q. Duy, Tyrone DeSpenza, Benjamin C. Reeves, Jason K. Karimy, Arnaud Marlier, Christopher Castaldi, Irina R. Tikhonova, Boyang Li, Helena Pérez‐Peña, James R. Broach, Edith Mbabazi Kabachelor, Peter Ssenyonga, Christine Hehnly, Ge Li, Boris Keren, Andrew T. Timberlake, June Goto, Francesco T. Mangano, James M. Johnston, William E. Butler, Benjamin C. Warf, Edward R. Smith, Steven J. Schiff, David D. Limbrick, Gregory G. Heuer, Eric M. Jackson, Bermans J. Iskandar, Shrikant Mane, Shozeb Haider, Bülent Güçlü, Yaşar Bayri, Yener Şahin, Charles C. Duncan, Michael L.J. Apuzzo, Michael L. DiLuna, Ellen J. Hoffman, Nenad Šestan, Laura R. Ment, Seth L. Alper, Kaya Bilgüvar, Daniel H. Geschwind, Murat Günel, Richard P. Lifton, Kristopher T. Kahle - Nature Medicine 2020 被引用: 164
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
著者: Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State - Neuron 2011 被引用: 1,292
- Integrated genomic characterization of IDH1-mutant glioma malignant progression
著者: Hanwen Bai, Akdes Serin Harmancı, E. Zeynep Erson‐Omay, Jie Li, Süleyman Coşkun, Matthias Simon, Boris Krischek, Koray Özduman, Sacit Bulent Omay, Eric A. Sorensen, Şevin Turcan, Mehmet Bakırcığlu, Geneive Carrión-Grant, Phillip B. Murray, Victoria Clark, A. Gulhan Ercan‐Sencicek, James Knight, Leman Sencar, Selin Altınok, Leon D. Kaulen, Burcu Gülez, Marco Timmer, Johannes Schramm, Ketu Mishra-Gorur, Octavian Henegariu, Jennifer Moliterno, Angeliki Louvi, Timothy A. Chan, Stacey Tannheimer, M. Necmettin Pamir, Alexander O. Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Murat Günel - Nature Genetics 2015 被引用: 350
- Centers for Mendelian Genomics: A decade of facilitating gene discovery
著者: Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Larry Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey Hall, Adam Hansen, Tamar Harel, Arif Harmanci, Isabella Herman, Kurt N. Hetrick ほか 142 名 - Genetics in Medicine 2022 被引用: 80
- Associations of meningioma molecular subgroup and tumor recurrence
著者: Mark W. Youngblood, Danielle Miyagishima, Lan Jin, Trisha Gupte, Chang Li, Daniel Durán, Julio D. Montejo, Amy Zhao, Amar H. Sheth, Evgeniya Tyrtova, Koray Özduman, F. Iacoangeli, Matthieu Peyre, Julien Boetto, Matthew Pease, Timuçin Avşar, Anita Hüttner, Kaya Bilgüvar, Türker Kılıç, M. Necmettin Pamir, Nduka Amankulor, Michel Kalamarides, E. Zeynep Erson‐Omay, Murat Günel, Jennifer Moliterno - Neuro-Oncology 2020 被引用: 179
- Integrated mutational landscape analysis of uterine leiomyosarcomas
著者: Jungmin Choi, Aránzazu Manzano, Weilai Dong, Stefania Bellone, Elena Bonazzoli, Luca Zammataro, Xiaotong Yao, Aditya Deshpande, Samir Zaidi, Adele Guglielmi, Barbara Gnutti, Nupur Nagarkatti, Joan Tymon‐Rosario, Justin Harold, Dennis Mauricio, Burak Zeybek, Gulden Menderes, Gary Altwerger, Kyungjo Jeong, Siming Zhao, Natália Buza, Pei Hui, Antonella Ravaggi, Eliana Bignotti, Chiara Romani, Paola Todeschini, Laura Zanotti, Franco Odicino, Sërgio Pecorelli, Laura Ardighieri, Kaya Bilgüvar, Charles M. Quick, Dan-Arin Silasi, Gloria S. Huang, Vaagn Andikyan, Mitchell Clark, Elena Ratner, Masoud Azodi, Marcin Imieliński, Peter E. Schwartz, Ludmil B. Alexandrov, Richard P. Lifton, Joseph Schlessinger, Alessandro D. Santin - National Academy of Sciences, Proceedings of the National Academy of Sciences 2021 被引用: 118
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
著者: Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Bita Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson - Science 2014 被引用: 548
- CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
著者: Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson - Cell 2014 被引用: 284
- De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
著者: Charuta G. Furey, Jungmin Choi, Sheng Chih Jin, Xue Zeng, Andrew T. Timberlake, Carol Nelson‐Williams, M. Shahid Mansuri, Qiongshi Lu, Daniel Durán, Shreyas Panchagnula, August Allocco, Jason K. Karimy, Arjun Khanna, Jonathan Gaillard, Tyrone DeSpenza, Prince Antwi, Erin Loring, William E. Butler, Edward R. Smith, Benjamin C. Warf, Jennifer M. Strahle, David D. Limbrick, Phillip B. Storm, Gregory G. Heuer, Eric M. Jackson, Bermans J. Iskandar, James M. Johnston, Irina Tikhonova, Christopher Castaldi, Francesc López‐Giráldez, Robert Bjornson, James Knight, Kaya Bilgüvar, Shrikant Mane, Seth L. Alper, Shozeb Haider, Bülent Güçlü, Yaşar Bayri, Yener Şahin, Michael L.J. Apuzzo, Charles C. Duncan, Michael L. DiLuna, Murat Günel, Richard P. Lifton, Kristopher T. Kahle - Neuron 2018 被引用: 162
- Integrated genomic analyses of de novo pathways underlying atypical meningiomas
著者: Akdes Serin Harmancı, Mark W. Youngblood, Victoria Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Durán, E. Zeynep Erson‐Omay, Leon D. Kaulen, Tong Ihn Lee, Brian J. Abraham, Matthias Simon, Boris Krischek, Marco Timmer, Roland Goldbrunner, Sacit Bulent Omay, Jacob F. Baranoski, Burçin Baran, Geneive Carrión-Grant, Hanwen Bai, Ketu Mishra-Gorur, Johannes Schramm, Jennifer Moliterno, Alexander O. Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Richard A. Young, Murat Günel - Nature Communications 2017 被引用: 217
