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Peter H. Byers

1972–2025 年に発表

141
論文数
24,194
被引用数
88
h 指数
137
i10 指数

被引用数

Peter H. Byers の年別被引用数1942 年: 被引用 1 件1970 年: 被引用 2 件1973 年: 被引用 2 件1974 年: 被引用 5 件1975 年: 被引用 16 件1976 年: 被引用 26 件1977 年: 被引用 21 件1978 年: 被引用 11 件1979 年: 被引用 26 件1980 年: 被引用 22 件1981 年: 被引用 31 件1982 年: 被引用 29 件1983 年: 被引用 37 件1984 年: 被引用 37 件1985 年: 被引用 46 件1986 年: 被引用 30 件1987 年: 被引用 34 件1988 年: 被引用 58 件1989 年: 被引用 103 件1990 年: 被引用 65 件1991 年: 被引用 47 件1992 年: 被引用 53 件1993 年: 被引用 45 件1994 年: 被引用 51 件1995 年: 被引用 40 件1996 年: 被引用 59 件1997 年: 被引用 61 件1998 年: 被引用 64 件1999 年: 被引用 37 件2000 年: 被引用 48 件2001 年: 被引用 60 件2002 年: 被引用 99 件2003 年: 被引用 64 件2004 年: 被引用 100 件2005 年: 被引用 89 件2006 年: 被引用 86 件2007 年: 被引用 94 件2008 年: 被引用 128 件2009 年: 被引用 128 件2010 年: 被引用 175 件2011 年: 被引用 199 件2012 年: 被引用 153 件2013 年: 被引用 151 件2014 年: 被引用 170 件2015 年: 被引用 164 件2016 年: 被引用 164 件2017 年: 被引用 181 件2018 年: 被引用 139 件2019 年: 被引用 551 件2020 年: 被引用 558 件2021 年: 被引用 524 件2022 年: 被引用 345 件2023 年: 被引用 228 件2024 年: 被引用 476 件2025 年: 被引用 186 件2026 年: 被引用 3 件1943〜1969 年は被引用が無いため表示していません1971〜1972 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 2,087 件、この内訳の 31.4%イギリス: 引用元論文 560 件、この内訳の 8.4%ドイツ: 引用元論文 385 件、この内訳の 5.8%フランス: 引用元論文 316 件、この内訳の 4.8%カナダ: 引用元論文 310 件、この内訳の 4.7%イタリア: 引用元論文 286 件、この内訳の 4.3%オランダ: 引用元論文 282 件、この内訳の 4.2%中国: 引用元論文 256 件、この内訳の 3.9%ベルギー: 引用元論文 234 件、この内訳の 3.5%オーストラリア: 引用元論文 213 件、この内訳の 3.2%日本: 引用元論文 173 件、この内訳の 2.6%スペイン: 引用元論文 136 件、この内訳の 2.1%
0%31.4%その他 21.1%

機関

分野

  • Biochemistry, Genetics and Molecular Biology60.5%
  • Medicine32.2%
  • Materials Science2.1%
  • Immunology and Microbiology1.3%
  • Neuroscience0.9%
  • Engineering0.7%
  • その他2.3%

トピック

  • Connective tissue disorders research14.1%
  • Aortic Disease and Treatment Approaches3.9%
  • Bone and Dental Protein Studies2.7%
  • Cell Adhesion Molecules Research2.7%
  • Genomics and Rare Diseases2.6%
  • Aortic aneurysm repair treatments2.5%
  • その他71.5%

共著者

全論文

検索で開く
  1. The 2017 international classification of the Ehlers–Danlos syndromes

    著者: Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle - American Journal of Medical Genetics Part C Seminars in Medical Genetics 2017 被引用: 1,878

  2. Osteogenesis imperfecta

    著者: Joan C. Marini, Antonella Forlino, Hans Peter Bächinger, Nick Bishop, Peter H. Byers, Anne De Paepe, François Fassier, Nadja Fratzl‐Zelman, Kenneth M. Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler - Nature Reviews Disease Primers 2017 被引用: 758

  3. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

    著者: Bart Loeys, Ulrike Schwarze, Tammy M. Holm, Bert Callewaert, George H. Thomas, Hariyadarshi Pannu, Julie De Backer, Gretchen Oswald, Sofie Symoens, Sylvie Manouvrier, Amy E. Roberts, Francesca Faravelli, M. Alba Greco, Reed E. Pyeritz, Dianna M. Milewicz, Paul Coucke, Duke E. Cameron, Alan C. Braverman, Peter H. Byers, Anne M. De Paepe, Harry C. Dietz - New England Journal of Medicine 2006 被引用: 1,640

  4. Mendelian inheritance revisited: dominance and recessiveness in medical genetics

    著者: Johannes Zschocke, Peter H. Byers, Andrew O.M. Wilkie - Nature Reviews Genetics 2023 被引用: 97

  5. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

    著者: Peter H. Byers, John W. Belmont, James H. Black, Julie De Backer, Michael Frank, Xavier Jeunemaı̂tre, Diana Johnson, Melanie Pepin, Leema Robert, Lynn Sanders, Nigel Wheeldon - American Journal of Medical Genetics Part C Seminars in Medical Genetics 2017 被引用: 372

  6. The Ehlers–Danlos syndromes

    著者: Fransiska Malfait, Marco Castori, Clair A. Francomano, Cecilia Giunta, Tomoki Kosho, Peter H. Byers - Nature Reviews Disease Primers 2020 被引用: 310

  7. Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

    著者: Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, Peter H. Byers - New England Journal of Medicine 2000 被引用: 1,340

  8. A call for direct sequencing of full-length RNAs to identify all modifications

    著者: Juan Alfonzo, Jessica A. Brown, Peter H. Byers, Vivian G. Cheung, Richard J Maraia, Robert Ross - Nature Genetics 2021 被引用: 67

  9. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

    著者: Joan C. Marini, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, James D. San Antonio, Sarah A. Milgrom, James Hyland, Jarmo Körkkö, Darwin J. Prockop, Anne De Paepe, Paul Coucke, Sofie Symoens, Francis H. Glorieux, Peter J. Roughley, Allan M. Lund, Kaija Kuurila-Svahn, Heini Hartikka, Daniel H. Cohn, Deborah Krakow, Monica Mottes, Ulrike Schwarze, Diana Chen, Kathleen Yang, Christine Kuslich, James Troendle, Raymond Dalgleish, Peter H. Byers - Human Mutation 2006 被引用: 772

  10. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

    著者: Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdallah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert Mortier, Han G. Brunner, Peter H. Byers, Jennifer E. Van Eyk, Lut Van Laer, Harry C. Dietz, Bart Loeys - Nature Genetics 2012 被引用: 464

  11. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

    著者: Judy Savige, Helen Storey, E. Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, H. Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuševa Martić, Asheeta Gupta, Albertien M. van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al‐Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierżyńska, Concetta Gangemi, Beata S. Lipska‐Ziętkiewicz - European Journal of Human Genetics 2021 被引用: 127

  12. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

    著者: Victoria E. Rael, Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte, J M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily Farrow, Janda Jenkins, Mara L. Becker, Stephen C. Wong, Anne M. Stevens, Catherine Otten, Eric J. Allenspach, Devon Bonner, Jonathan A. Bernstein, Matthew T. Wheeler, Robert A. Saxton, Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Raquel L. Alvarez, Justin Alvey, Aimee Allworth, Ashley Andrews, Euan A. Ashley, Ben Afzali, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John M. Carey, Thomas Cassini, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Margaret Delgado, Esteban C. Dell’Angelica, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Jiayu Fu, William A. Gahl, I. S. Glass, Pagé C. Goddard, Rena A. Godfrey ほか 163 名 - The Journal of Experimental Medicine 2024 被引用: 37

  13. CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

    著者: Roy Morello, Terry Bertin, Yuqing Chen, John Hicks, Laura Tonachini, Massimiliano Monticone, Patrizio Castagnola, Frank Rauch, Francis H. Glorieux, Janice A. Vranka, Hans Peter Bächinger, James M. Pace, Ulrike Schwarze, Peter H. Byers, MaryAnn Weis, Russell J. Fernandes, David R. Eyre, Zhenqiang Yao, Brendan F. Boyce, Brendan Lee - Cell 2006 被引用: 533

  14. Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

    著者: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F. Leistritz, Peter H. Byers - Genetics in Medicine 2014 被引用: 300

  15. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    著者: Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng ほか 195 名 - The American Journal of Human Genetics 2020 被引用: 69

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

    著者: Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary 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 L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew A. Deardorff ほか 208 名 - The American Journal of Human Genetics 2023 被引用: 37

  17. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

    著者: Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, Yizi Mao, Yong-Han Hank Cheng, Jane Ranchalis, Elizabeth Blue, Ulrike Schwarze, Katherine M. Munson, Christopher T. Saunders, Aaron M. Wenger, Aimee Allworth, Sirisak Chanprasert, Brittney L. Duerden, Ian A. Glass, Martha Horike‐Pyne, Michelle Kim, Kathleen A. Leppig, Ian McLaughlin, Jessica Ogawa, Elisabeth A. Rosenthal, Sam Sheppeard, Stephanie M. Sherman, Samuel Strohbehn, Amy Lawson‐Yuen, Andrew W. Stacey, Undiagnosed Diseases Network, Thomas A. Reh, Peter H. Byers, Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Yasemin Sancak, Katrina M. Dipple, Andrew B. Stergachis - Nature Genetics 2025 被引用: 32

  18. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    著者: Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Joseph S Salama, Ragan Hart, Brian H. Shirts, Mitzi L. Murray, Mari Tokita, Carlos J. Gallego, Daniel Seung Kim, James T. Bennett, David R. Crosslin, Jane Ranchalis, Kelly L. Jones, Elisabeth A. Rosenthal, Ella R. Jarvik, Andy Itsara, Emily H. Turner, Daniel S. Herman, Jennifer Schleit, Amber Burt, Seema M. Jamal, Jenica Abrudan, Andrew D. Johnson, Laura K. Conlin, Matthew C. Dulik, Avni Santani, Danielle R. Metterville, Melissa Kelly, Ann Katherine M. Foreman, Kristy Lee, Kent D. Taylor, Xiuqing Guo, Kristy Crooks, Lesli A. Kiedrowski, Leslie J. Raffel, Ora Gordon, Kalotina Machini, Robert J. Desnick, Leslie G. Biesecker, Steven A. Lubitz, Surabhi Mulchandani, Gregory M. Cooper, Steven Joffe, C. Sue Richards, Yaoping Yang, Jerome I. Rotter, Stephen S. Rich, Christopher J. O’Donnell, Jonathan S. Berg, Nancy B. Spinner, James P. Evans, Stephanie M. Fullerton, Kathleen A. Leppig, Robin L. Bennett, Thomas D. Bird, Virginia P. Sybert, William M. Grady, Holly K. Tabor, Jerry H. Kim, Michael J. Bamshad, Benjamin S. Wilfond, Arno G. Motulsky, C. Ronald Scott, Colin C. Pritchard, Tom Walsh, Wylie Burke, Wendy H. Raskind, Peter H. Byers, Fuki M. Hisama, Heidi L. Rehm, Debbie A. Nickerson, Gail P. Jarvik - Genome Research 2015 被引用: 369

  19. Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

    著者: Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman Alswaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers - The American Journal of Human Genetics 2010 被引用: 359

  20. Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience

    著者: Cecilia Götherström, Magnus Westgren, Steven W. Shaw, Eva Åström, Arijit Biswas, Peter H. Byers, Citra Nurfarah Zaini Mattar, Gail E. Graham, Jahan Taslimi, Uwe Ewald, Nicholas M. Fisk, Allen Eng Juh Yeoh, Ju-Li Lin, Po-Jen Cheng, Mahesh Choolani, Katarina Le Blanc, Jerry Kok Yen Chan - Stem Cells Translational Medicine 2013 被引用: 199

  21. Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome

    著者: Mitzi L. Murray, Melanie Pepin, Suzanne E. Peterson, Peter H. Byers - Genetics in Medicine 2014 被引用: 178

  22. Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

    著者: François P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh - The American Journal of Human Genetics 2012 被引用: 227

  23. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

    著者: Shilpa N. Kobren, Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves, Barbara N. Pusey, Stephan Züchner, Elizabeth Blue, Hane Lee, Alden Huang, Lisa Bastarache, Anna Bican, Joy D. Cogan, Shruti Marwaha, Anna Alkelai, David R. Murdock, Pengfei Liu, Daniel Wegner, Alexander J. Paul, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary 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 L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Daya, Matthew A. Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves ほか 209 名 - Genetics in Medicine 2021 被引用: 34

  24. Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

    著者: Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, Gülen Eda Ütine, Koray Boduroğlu, Dilek Aktaş, Mehmet Alikaşifoğlu, Ergül Tunçbılek, Dıclehan Orhan, Filiz Tiker Bakar, B. Zabel, Andrea Superti‐Furga, Leena Bruckner‐Tuderman, Cindy J.R. Curry, Shawna M. Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, Elaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow - The American Journal of Human Genetics 2010 被引用: 319