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Peter H. Byers

Active 1972–2025

141
Papers
24,194
Citations
88
h-index
137
i10-index

Citations

Citations per year for Peter H. Byers1942: 1 citations1970: 2 citations1973: 2 citations1974: 5 citations1975: 16 citations1976: 26 citations1977: 21 citations1978: 11 citations1979: 26 citations1980: 22 citations1981: 31 citations1982: 29 citations1983: 37 citations1984: 37 citations1985: 46 citations1986: 30 citations1987: 34 citations1988: 58 citations1989: 103 citations1990: 65 citations1991: 47 citations1992: 53 citations1993: 45 citations1994: 51 citations1995: 40 citations1996: 59 citations1997: 61 citations1998: 64 citations1999: 37 citations2000: 48 citations2001: 60 citations2002: 99 citations2003: 64 citations2004: 100 citations2005: 89 citations2006: 86 citations2007: 94 citations2008: 128 citations2009: 128 citations2010: 175 citations2011: 199 citations2012: 153 citations2013: 151 citations2014: 170 citations2015: 164 citations2016: 164 citations2017: 181 citations2018: 139 citations2019: 551 citations2020: 558 citations2021: 524 citations2022: 345 citations2023: 228 citations2024: 476 citations2025: 186 citations2026: 3 citations1943–1969: no citations, so these years are not shown1971–1972: no citations, so these years are not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 2,087 citing papers, 31.4% of this breakdownUnited Kingdom: 560 citing papers, 8.4% of this breakdownGermany: 385 citing papers, 5.8% of this breakdownFrance: 316 citing papers, 4.8% of this breakdownCanada: 310 citing papers, 4.7% of this breakdownItaly: 286 citing papers, 4.3% of this breakdownNetherlands: 282 citing papers, 4.2% of this breakdownChina: 256 citing papers, 3.9% of this breakdownBelgium: 234 citing papers, 3.5% of this breakdownAustralia: 213 citing papers, 3.2% of this breakdownJapan: 173 citing papers, 2.6% of this breakdownSpain: 136 citing papers, 2.1% of this breakdown
0%31.4%Other 21.1%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology60.5%
  • Medicine32.2%
  • Materials Science2.1%
  • Immunology and Microbiology1.3%
  • Neuroscience0.9%
  • Engineering0.7%
  • Other2.3%

Topics

  • 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%
  • Other71.5%

Coauthors

All papers

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  1. The 2017 international classification of the Ehlers–Danlos syndromes

    Authors: 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 cited by 1,878

  2. Osteogenesis imperfecta

    Authors: 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 cited by 758

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

    Authors: 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 cited by 1,640

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

    Authors: Johannes Zschocke, Peter H. Byers, Andrew O.M. Wilkie - Nature Reviews Genetics 2023 cited by 97

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

    Authors: 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 cited by 372

  6. The Ehlers–Danlos syndromes

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

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

    Authors: Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga, Peter H. Byers - New England Journal of Medicine 2000 cited by 1,340

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

    Authors: Juan Alfonzo, Jessica A. Brown, Peter H. Byers, Vivian G. Cheung, Richard J Maraia, Robert Ross - Nature Genetics 2021 cited by 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

    Authors: 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 cited by 772

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

    Authors: 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 cited by 464

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

    Authors: 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 cited by 127

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

    Authors: 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 and 163 more - The Journal of Experimental Medicine 2024 cited by 37

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

    Authors: 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 cited by 533

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

    Authors: Melanie Pepin, Ulrike Schwarze, Kenneth Rice, Mingdong Liu, Dru F. Leistritz, Peter H. Byers - Genetics in Medicine 2014 cited by 300

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

    Authors: 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 and 195 more - The American Journal of Human Genetics 2020 cited by 69

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

    Authors: 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 and 208 more - The American Journal of Human Genetics 2023 cited by 37

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

    Authors: 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 cited by 32

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

    Authors: 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 cited by 369

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

    Authors: 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 cited by 359

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

    Authors: 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 cited by 199

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

    Authors: Mitzi L. Murray, Melanie Pepin, Suzanne E. Peterson, Peter H. Byers - Genetics in Medicine 2014 cited by 178

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

    Authors: 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 cited by 227

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

    Authors: 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 and 209 more - Genetics in Medicine 2021 cited by 34

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

    Authors: 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 cited by 319