Résultats de la recherche - Ruizhi Duan

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  1. 1
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability par Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç, Hatice Koçak Eker, Silvia R. Costa, Yavuz Şahin, Zeynep Ocak, Sedat Işıkay, Özge Özalp, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Nursel Elçioǧlu, Débora Romeo Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gülsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban‐Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehli̇van, Richard A. Gibbs, James R. Lupski

    Publié 2022
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  2. 2
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population par Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van

    Publié 2021
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  3. 3
    Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Centers for Mendelian Genomics: A decade of facilitating gene discovery par 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, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence 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 J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci

    Publié 2022
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  4. 4
    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions par Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman

    Publié 2023
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