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D

Diane D. Shao

Boston Children’s Hospital

15H-index
37Paper Count
2.4KCitation Count
Published Papers 16
Publication Date
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Duplex-Indel: a snakemake pipeline for somatic indel calling in Tn5 transposase-based duplex sequencing data
errBioinformatics
IF5.4
err2026-04-27
err0
errOAAI
errGuanlan Dong; Nazia Hilal; Shayna Mallett; Bowen Jin; Shulin Mao; Monica Devi Manam; Diane D Shao; Sangita Choudhury; August Yue Huang; Eunjung Alice Lee; null; null
errShare
errSave
Diverse Genetic Etiologies of Unilateral Polymicrogyria
errAnnals of Neurology
IF7.7
err2026-02-11
err0
errOAAI
errAbbe Lai CGC; Jennifer E. Neil CGC; Shyam K. Akula MD, PhD; Dina Amrom MD; Eva Andermann MD, PhD; Ann Bergin MD, ScM, MRCP; Roberto Caraballo MD; Allen Y. Chen MD, PhD; John Gaitanis MD; Ganeshwaran H. Mochida MD, MMSc, PhD; Jill M. Gotoff MD; Giorgi Kuchukhidze MD, PhD; Daphna Marom MD; Christelle Moufawad ElAchkar MD; Miriam Regev MD, MBBS; Lance H. Rodan MD; Heather Olson MD; Bo Zhang PhD; Annapurna Poduri MPH, MD; Diane D. Shao MD, PhD; Christopher A. Walsh MD, PhD; Edward Yang MD, PhD
errShare
errSave
Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy
errScience
IF45.8
err2025-10-30
err0
PREAI
errGuanlan Dong; Chanthia C. Ma; Shulin Mao; Katherine Sun-Mi Brown; Samuel M. Naik; Gannon A. McDonough; Samadhi P. Wijethunga; Junho Kim; Samantha L. Kirkham; Diane D. Shao; Jonathan D. Cherry; Madeline Uretsky; Elizabeth Spurlock; Ann C. McKee; August Yue Huang; Michael B. Miller; Eunjung Alice Lee; Christopher A. Walsh
errShare
errSave
The Somatic Mosaicism across Human Tissues Network
errNature
IF48.5
err2025-07-02
err0
PREAI
errTim H. H. Coorens; Ji Won Oh; Yujin Angelina Choi; Nam Seop Lim; Boxun Zhao; Adam Voshall; Alexej Abyzov; Lucinda Antonacci-Fulton; Samuel Aparicio; Kristin G. Ardlie; Thomas J. Bell; James T. Bennett; Bradley E. Bernstein; Thomas G. Blanchard; Alan P. Boyle; Jason D. Buenrostro; Kathleen H. Burns; Fei Chen; Rui Chen; Sangita Choudhury; Harsha V. Doddapaneni; Evan E. Eichler; Gilad D. Evrony; Melissa A. Faith; Thomas G. Fazzio; Robert S. Fulton; Manuel Garber; Nils Gehlenborg; Soren Germer; Gad Getz; Richard A. Gibbs; Raquel G. Hernandez; Fulai Jin; Jan O. Korbel; Dan A. Landau; Heather A. Lawson; Niall J. Lennon; Heng Li; Yan Li; Po-Ru Loh; Gabor Marth; Michael J. McConnell; Ryan E. Mills; Stephen B. Montgomery; Pradeep Natarajan; Peter J. Park; Rahul Satija; Fritz J. Sedlazeck; Diane D. Shao; Hui Shen; Andrew B. Stergachis; Hunter R. Underhill; Alexander E. Urban; Melissa W. VonDran; Christopher A. Walsh; Ting Wang; Tao P. Wu; Chenghang Zong; Eunjung Alice Lee; Flora M. Vaccarino
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errSave
Spatial transcriptomics reveals human cortical layer and area specification
errNATURE
IF48.5
err2025-05-14
err0
errOAAI
errQian, Xuyu; Coleman, Kyle; Jiang, Shunzhou; Kriz, Andrea J.; Marciano, Jack H.; Luo, Chunyu; Cai, Chunhui; Manam, Monica Devi; Caglayan, Emre; Lai, Abbe; Exposito-Alonso, David; Otani, Aoi; Ghosh, Urmi; Shao, Diane D.; Andersen, Rebecca E.; Neil, Jennifer E.; Johnson, Robert; LeFevre, Alexandra; Hecht, Jonathan L.; Micali, Nicola; Sestan, Nenad; Rakic, Pasko; Miller, Michael B.; Sun, Liang; Stringer, Carsen; Li, Mingyao; Walsh, Christopher A.
errShare
errSave
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
errNATURE REVIEWS GENETICS
IF52
err2025-04-25
err0
PREAI
errShao, Diane D.; Kriz, Andrea J.; Snellings, Daniel A.; Zhou, Zinan; Zhao, Yifan; Enyenihi, Liz; Walsh, Christopher
errShare
errSave
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-05-01
err7
errOAAI
errLemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne
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errSave
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
errJAMA NETWORK OPEN
IF9.7
err2023-07-20
err14
errOAAI
errKoh, Hyun Yong; Smith, Lacey; Wiltrout, Kimberly N.; Podury, Archana; Chourasia, Nitish; D'Gama, Alissa M.; Park, Meredith; Knight, Devon; Sexton, Emma L.; Koh, Julia J.; Oby, Brandon; Pinsky, Rebecca; Shao, Diane D.; French, Courtney E.; Shao, Wanqing; Rockowitz, Shira; Sliz, Piotr; Zhang, Bo; Mahida, Sonal; El Achkar, Christelle Moufawad; Yuskaitis, Christopher J.; Olson, Heather E.; Sheidley, Beth Rosen; Poduri, Annapurna H.
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errSave
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
errDEVELOPMENTAL CELL
IF8.7
err2022-10-01
err13
errOAAI
errQian, Xuyu; DeGennaro, Ellen M.; Talukdar, Maya; Akula, Shyam K.; Lai, Abbe; Shao, Diane D.; Gonzalez, Dilenny; Marciano, Jack H.; Smith, Richard S.; Hylton, Norma K.; Yang, Edward; Bazan, J. Fernando; Barrett, Lee; Yeh, Rebecca C.; Hill, R. Sean; Beck, Samantha G.; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer E.; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall C.; Argilli, Emanuela; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish S.; Barnett, Christopher P.; Arts, Peer; Sherr, Elliott H.; Lupski, James R.; Walsh, Christopher A.
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errSave
Biallelic loss of EMC10 leads to mild to severe intellectual disability
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2022-06-09
err6
errOAAI
errKaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D.; Markus-Bustani, Keren; Sofrin-Drucker, Efrat; Orenstein, Naama; Salayev, Kamran; Arrigoni, Filippo; Houlden, Henry; Maroofian, Reza
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errSave
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
errGENETICS IN MEDICINE
IF6.2
err2021-06-01
err16
errOAAI
errShao, Diane D.; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R. Sean; Smith, Richard S.; Majmundar, Amar J.; Ameziane, Najim; Neil, Jennifer E.; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S.; Schlaeger, Thorsten M.; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z.; Rento, Lariza M.; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A. James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A.
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errSave
Polymicrogyria is Associated With Pathogenic Variants inPTEN
errANNALS OF NEUROLOGY
IF7.7
err2020-10-08
err23
errOAAI
errShao, Diane D.; Achkar, Christelle M.; Lai, Abbe; Srivastava, Siddharth; Doan, Ryan N.; Rodan, Lance H.; Chen, Allen Y.; Poduri, Annapurna; Yang, Edward; Walsh, Christopher A.
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errSave
Characterizing genomic alterations in cancer by complementary functional associations
errNATURE BIOTECHNOLOGY
IF41.7
err2016-04-18
err79
errOAAI
errKim, Jong Wook; Botvinnik, Olga B.; Abudayyeh, Omar; Birger, Chet; Rosenbluh, Joseph; Shrestha, Yashaswi; Abazeed, Mohamed E.; Hammerman, Peter S.; DiCara, Daniel; Konieczkowski, David J.; Johannessen, Cory M.; Liberzon, Arthur; Alizad-Rahvar, Amir Reza; Alexe, Gabriela; Aguirre, Andrew; Ghandi, Mahmoud; Greulich, Heidi; Vazquez, Francisca; Weir, Barbara A.; Van Allen, Eliezer M.; Tsherniak, Aviad; Shao, Diane D.; Zack, Travis I.; Noble, Michael; Getz, Gad; Beroukhim, Rameen; Garraway, Levi A.; Ardakani, Masoud; Romualdi, Chiara; Sales, Gabriele; Barbie, David A.; Boehm, Jesse S.; Hahn, William C.; Mesirov, Jill P.; Tamayo, Pablo
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errSave
ATARiS: Computational quantification of gene suppression phenotypes from multisample RNAi screens
errGENOME RESEARCH
IF5.5
err2012-12-26
err122
errOAAI
errShao, Diane D.; Tsherniak, Aviad; Gopal, Shuba; Weir, Barbara A.; Tamayo, Pablo; Stransky, Nicolas; Schumacher, Steven E.; Zack, Travis I.; Beroukhim, Rameen; Garraway, Levi A.; Margolin, Adam A.; Root, David E.; Hahn, William C.; Mesirov, Jill P.
errShare
errSave
Pivotal advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation
errJOURNAL OF LEUKOCYTE BIOLOGY
IF3.1
err2008-03-10
err261
errOAAI
errShao, Diane D.; Suresh, Rahul; Vakil, Varsha; Gomer, Richard H.; Pilling, Darrell
errShare
errSave
Reaction kinetics of the addition of atomic sulfur to nitric oxide
errJOURNAL OF CHEMICAL PHYSICS
IF3.1
err2004-11-22
err17
errOAAI
errGoumri, A; Shao, DD; Marshall, P
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
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Gad Getz
H-index: 248 · Papers: 1.8K
E
Evan E. Eichler
H-index: 191 · Papers: 864
R
Richard A. Gibbs
H-index: 190 · Papers: 1.3K
R
Robert S. Fulton
H-index: 154 · Papers: 584
R
Rameen Beroukhim
H-index: 149 · Papers: 899
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