Richard A Gibbs (Richard Gibbs, R A Gibbs)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 41

Top Venues

American journal of medical genetics. Part A

Science advances

GigaScience

Science (New York, N.Y.)

This page only lists publications with an associated author ORCID identifier.

Publications

Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne E Patterson, Eric Venner, Lara A Muffley, Douglas M Fowler, Alan F Rubin, Jennifer E Posey, Sharon E Plon, James R. Lupski, Richard A Gibbs, Joshua T Schiffer, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
Defining and Reducing Variant Classification Disparities. medRxiv : the preprint server for health sciences (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Pagna Sok, Aniko Sabo, Lynn M Almli, Mary M Jenkins, Wendy N Nembhard, A J Agopian, Michael J Bamshad, Elizabeth E Blue, Lawrence C Brody, Austin L Brown, Marilyn L Browne, Mark A Canfield, Suzan L Carmichael, Jessica Xiao-Ling Chong, Shannon Dugan-Perez, Marcia L Feldkamp, Richard H Finnell, Richard A Gibbs, Denise M Kay, Yunping Lei, Qingchang Meng, Cynthia A Moore, James C Mullikin, Donna Muzny, Andrew F Olshan, Faith Pangilinan, Jennita Reefhuis, Paul A Romitti, Jeremy M Schraw, Gary M Shaw, Martha M Werler, Sanjiv Harpavat, Philip J Lupo, null null
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy, null null, null null, Matthew N Bainbridge, Christopher I Amos, Jill S Barnholtz-Sloan, Jonine L Bernstein, Elizabeth B Claus, Richard S Houlston, Dora Il'yasova, Robert B Jenkins, Christoffer Johansen, Daniel Lachance, Rose Lai, Beatrice S Melin, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen Schildkraut, Sanjay Shete, 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
The genomic landscape of familial glioma. Science advances 9 (17) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy, null null, null null, Matthew N Bainbridge, Christopher I Amos, Jill S Barnholtz-Sloan, Jonine L Bernstein, Elizabeth B Claus, Richard S Houlston, Dora Il'yasova, Robert B Jenkins, Christoffer Johansen, Daniel Lachance, Rose Lai, Beatrice S Melin, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen Schildkraut, Sanjay Shete, 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
The genomic landscape of familial glioma. Science advances 9 (17) (2023)
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy, null null, null null, Matthew N Bainbridge, Christopher I Amos, Jill S Barnholtz-Sloan, Jonine L Bernstein, Elizabeth B Claus, Richard S Houlston, Dora Il'yasova, Robert B Jenkins, Christoffer Johansen, Daniel Lachance, Rose Lai, Beatrice S Melin, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen Schildkraut, Sanjay Shete, 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
The genomic landscape of familial glioma. Science advances 9 (17) (2023)
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy, null null, null null, Matthew N Bainbridge, Christopher I Amos, Jill S Barnholtz-Sloan, Jonine L Bernstein, Elizabeth B Claus, Richard S Houlston, Dora Il'yasova, Robert B Jenkins, Christoffer Johansen, Daniel Lachance, Rose Lai, Beatrice S Melin, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen Schildkraut, Sanjay Shete, 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
The genomic landscape of familial glioma. Science advances 9 (17) (2023)
Natalie R Hasbani, Kenneth E Westerman, Soo Heon Kwak, Han-Yang Chen, Xihao Li, Daniel A DiCorpo, Jennifer Wessel, Joshua C Bis, Chloe Sarnowski, Peitao Wu, Lawrence F Bielak, Xiuqing Guo, Nancy Heard- Costa, Gregory L Kinney, Michael C Mahaney, May E Montasser, Nicholette D D Allred, Laura M Raffield, James G Terry, Lisa R Yanek, Jessica Bon, Donald W Bowden, Jennifer A Brody, Ravindranath Duggirala, David R Jacobs, Rita R Kalyani, Leslie A Lange, Braxton D Mitchell, Jennifer A Smith, Kent D Taylor, April P Carson, Joanne E Curran, Myriam Fornage, Barry I Freedman, Stacey Gabriel, Richard A Gibbs, Namrata Gupta, Sharon L R Kardia, Brian G Kral, Zeineen Momin, Anne B Newman, Wendy S Post, Karine A Viaud-Martinez, Kendra A Young, Lewis C Becker, Alain G Bertoni, John E Blangero, John Jeffrey Carr, Katherine Pratte, Bruce M Psaty, Stephen S Rich, null null, Joseph C Wu, Rajeev Malhotra, Patricia A Peyser, Alanna C Morrison, Ramachandran S Vasan, Xihong Lin, Jerome I Rotter, James B Meigs, Alisa K Manning, Paul S de Vries
Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circulation. Genomic and precision medicine (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Dong-Joo Choi, Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E Plon, Terence C Wong, Eric Boerwinkle, Donna M Muzny, Hsiao-Chi Chen, Richard A Gibbs, Quinn T Ostrom, Beatrice Melin, Benjamin Deneen, Melissa L Bondy, null null, null null, Matthew N Bainbridge, Christopher I Amos, Jill S Barnholtz-Sloan, Jonine L Bernstein, Elizabeth B Claus, Richard S Houlston, Dora Il'yasova, Robert B Jenkins, Christoffer Johansen, Daniel Lachance, Rose Lai, Beatrice S Melin, Ryan T Merrell, Sara H Olson, Siegal Sadetzki, Joellen Schildkraut, Sanjay Shete, 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
The genomic landscape of familial glioma. Science advances 9 (17) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. American journal of medical genetics. Part A 188 (7) (2022)
Vipin K Menon, Pablo C Okhuysen, Cynthia L Chappell, Medhat Mahmoud, Medhat Mahmoud, Qingchang Meng, Harsha Vardhan Doddapaneni, Vanesa Vee, Yi Han, Sejal Salvi, Sravya Bhamidipati, Kavya Kottapalli, George Weissenberger, Hua Shen, Matthew C Ross, Kristi L Hoffman, Sara Javornik Cregeen, Donna M Muzny, Ginger A Metcalf, Richard A Gibbs, Joseph F Petrosino, Fritz J Sedlazeck
Fully resolved assembly of Cryptosporidium parvum. GigaScience 11 (2022)
Meenakshi Anurag, Eric J Jaehnig, Karsten Krug, Jonathan T Lei, Erik J Bergstrom, Beom-Jun Kim, Tanmayi D Vashist, Anh Minh Tran Huynh, Yongchao Dou, Xuxu Gou, Chen Huang, Zhiao Shi, Bo Wen, Viktoriya Korchina, Richard A Gibbs, Donna M Muzny, Harsha Vardhan Doddapaneni, Lacey Elizabeth Dobrolecki, Henry Rodriguez, Ana I Robles, Tara Hiltke, Michael T Lewis, Julie R Nangia, Maryam Nemati Shafaee, Shunqiang Li, Ian S Hagemann, Jeremy Hoog, Bora Lim, C Kent Osborne, D R Mani, Michael A Gillette, Bing Zhang, Gloria V Echeverria, George Miles, Mothaffar F Rimawi, Steven A Carr, Foluso O Ademuyiwa, Shankha Satpathy, Matthew J Ellis
Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer. Cancer discovery 12 (11) (2022)
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, null null, Richard A Gibbs, Davut Pehlivan, Jill V Hunter, Jennifer E Posey, Maha Saad Zaki, James R. Lupski
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. American journal of medical genetics. Part A 185 (4) (2021)
Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrahim Hegazy, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American journal of medical genetics. Part A (2021)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Y Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, Dana Marafi, James R. Lupski
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American journal of medical genetics. Part A 185 (7) (2021)
Marie-Claude Gingras, Aniko Sabo, Maria Cardenas, Abbas Rana, Sadhna Dhingra, Qingchang Meng, Jianhong Hu, Donna M Muzny, Harshavardhan Doddapaneni, Lesette Perez, Viktoriya Korchina, Caitlin Nessner, Xiuping Liu, Hsu Chao, John Goss, Richard A Gibbs
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life science alliance 4 (9) (2021)
Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R. Lupski, Christina Y Miyake
Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A 185 (8) (2021)
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani, Ziad Khan, Haowei Du, Richard A Gibbs, Jennifer E Posey, Dana Marafi, James R. Lupski
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. American journal of medical genetics. Part A (2021)
Ross Mangum, Jacquelyn Reuther, Kelsey C Bertrand, Raghu Chandramohan, Marcia K Kukreja, Arnold C Paulino, Donna Muzny, Jianhong Hu, Richard A Gibbs, Daniel J Curry, Fatema Malbari, Murali M Chintagumpala, Adekunle M Adesina, Kevin E Fisher, Stephen C Mack, Sharon E Plon, Angshumoy Roy, D Williams Parsons, Frank Y Lin
Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling. JCO precision oncology 5 (2021)
Suleyman Gulsuner, Dan J Stein, Ezra S Susser, Goodman Sibeko, A Pretorius, Tom Walsh, L Majara, M M Mndini, S G Mqulwana, O A Ntola, Silvia Casadei, Linda Ngqengelele, Viktoriya Korchina, Celia van der Merwe, Megan Pool, Kim Fader, M Feng, Emily A Willoughby, Donna M Muzny, A Baldinger, H F Andrews, Ruben E Gur, Richard A Gibbs, Zukiswa Zingela, Mohammed Nagdee, Rajkumar Ramesar, Mary-Claire King, Jon M McClellan
Genetics of schizophrenia in the South African Xhosa. Science (New York, N.Y.) 367 (6477) (2020)
Chaofan Zhang, Juliana Forte Mazzeu, Jesper Eisfeldt, Christopher M Grochowski, Janson White, Zeynep C Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Anna Lindstrand, James R. Lupski, V Reid Sutton, Cláudia M B Carvalho
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American journal of medical genetics. Part A 185 (12) (2020)
Sarah A Cook, William A Comrie, Maria Cecilia Poli, Morgan N Similuk, Andrew J Oler, Aiman J Faruqi, Douglas B Kuhns, Sheng Yang, Alexander Vargas-Hernández, Alexandre F Carisey, Benjamin Fournier, D Eric Anderson, Susan Price, Margery G Smelkinson, Wadih Abou Chahla, Lisa Forbes Satter, Emily M Mace, Tram N Cao, Zeynep C Akdemir, Shalini N. Jhangiani, Donna M Muzny, Richard A Gibbs, James R. Lupski, Jordan S Orange, Geoffrey D E Cuvelier, Moza Al Hassani, Nawal Al Kaabi, Zain Al Yafei, Soma Jyonouchi, Nikita Raje, Jason W Caldwell, Yanping Huang, Janis K Burkhardt, Sylvain Latour, Baoyu Chen, Gehad ElGhazali, V Koneti Rao, Ivan K Chinn, Michael J Lenardo
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science (New York, N.Y.) 369 (6500) (2020)
Zeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, Ingrid S Paine, Jaya Punetha, Christopher M Grochowski, Tomasz Gambin, Santiago O Valdes, Bryan Cannon, Gladys Zapata, Patricia P Hernandez, Shalini Jhangiani, Harsha Doddapaneni, Jianhong Hu, Fatima Boricha, Donna M Muzny, Eric Boerwinkle, Yaping Yang, Richard A Gibbs, Jennifer E Posey, Xander H T Wehrens, John W Belmont, Jeffrey J Kim, Christina Y Miyake, James R Lupski, Seema R Lalani
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. American journal of medical genetics. Part A 182 (6) (2020)
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie-Claude Gingras, Jianhong Hu, Donna Muzny, Richard A Gibbs
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Molecular genetics & genomic medicine 8 (10) (2020)
Richard A Gibbs
The Human Genome Project changed everything. Nature reviews. Genetics 21 (10) (2020)
Jeffrey Rogers, Muthuswamy Raveendran, Ronald Alan Harris, Thomas Mailund, Kalle Leppälä, Georgios Athanasiadis, Mikkel Heide Schierup, Jade Cheng, Kasper Munch, Jerilyn A Walker, Miriam K Konkel, Vallmer Jordan, Cody J Steely, Thomas O Beckstrom, Christina M Bergey, Andrew Burrell, Dominik Schrempf, Angela Noll, Maximillian Kothe, Gisela H Kopp, Yue Liu, Shwetha Murali, Konstantinos Billis, Fergal J Martin, Matthieu Muffato, Laura A Cox, James Else, Todd Disotell, Donna M Muzny, Jane E Phillips-Conroy, Bronwen L Aken, Evan E Eichler, Tomas Marques-Bonet, Carolin Kosiol, Mark A Batzer, Matthew W Hahn, Jenny Tung, Dietmar Zinner, Christian Roos, Clifford J Jolly, Richard A Gibbs, Kim Carlyle Worley, null null
The comparative genomics and complex population history of Papio baboons. Science advances 5 (1) (2019)
Yunyun Jiang, Michael F Wangler, Amy L McGuire, James R Lupski, Jennifer E Posey, Michael M Khayat, David R Murdock, Luis Sanchez-Pulido, Chris P Ponting, Fan Xia, Jill V Hunter, Qingchang Meng, Mullai Murugan, Richard A Gibbs
The phenotypic spectrum of Xia-Gibbs syndrome. American journal of medical genetics. Part A 176 (6) (2018)
Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A Gibbs, Jennifer E Posey, James R Lupski, Zehra O Uyguner, Ariadne Letra
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. American journal of medical genetics. Part A 176 (4) (2018)
Chao Chen, Qingtuan Meng, Yan Xia, Chaodong Ding, Le Wang, Rujia Dai, Lijun Cheng, Preethi Gunaratne, Richard A Gibbs, Shishi Min, Cristian Coarfa, Jeffrey G Reid, Chunling Zhang, Chuan Jiao, Yi Jiang, Gina Giase, Amber Baldwin, Dominic Fitzgerald, Tonya Brunetti, Annie W Shieh, Cuihua Xia, Yongjun Wang, Yunpeng Wang, Judith A Badner, Elliot S Gershon, Kevin P White, Yanling Liu
The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. Science translational medicine 10 (472) (2018)

Richard A Gibbs.css-eqlu8i{font-size:small;padding-left:4px;} (Richard Gibbs, R A Gibbs)

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Richard A Gibbs (Richard Gibbs, R A Gibbs)