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S

Suma P. Shankar

hopital universitaire robert-debre - aphp
H指数:26
被引数:3,640

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荣誉奖项

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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

KDM2A基因中的全新变异导致一种综合征性神经发育障碍

American Journal of Human Genetics
IF8.1
2026-01-011
OA
Anderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder (vol 24, pg 1567, 2022)
GENETICS IN MEDICINE
IF6.2
2022-10-011
OAAI
Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Horberg, Johanna; Al Abdi, Lama; Mayer, Klaus; Utkur, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
GENETICS IN MEDICINE
IF6.2
2022-07-0110
OAAI
Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Horberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Utkur, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A.
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

严重和减弱形式的I型粘多糖贮积症的定量脑MRI形态学

MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-02-017
OAAI
Kovac, Victor; Shapiro, Elsa G.; Rudser, Kyle D.; Mueller, Bryon A.; Eisengart, Julie B.; Delaney, Kathleen A.; Ahmed, Alia; King, Kelly E.; Yund, Brianna D.; Cowan, Morton J.; Raiman, Julian; Mamak, Eva G.; Harmatz, Paul R.; Shankar, Suma P.; Ali, Nadia; Cagle, Stephanie R.; Wozniak, Jeffrey R.; Lim, Kelvin O.; Orchard, Paul J.; Whitley, Chester B.; Nestrasil, Igor
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
PEDIATRIC NEUROLOGY
IF2.1
2022-01-018
OAAI
Steele, Jacqueline L.; Morrow, Michelle M.; Sarnat, Harvey B.; Alkhunaizi, Ebba; Brandt, Tracy; Chitayat, David A.; DeFilippo, Colette P.; V. Douglas, Ganka; Dubbs, Holly A.; Elloumi, Houda Zghal; Glassford, Megan R.; Hannibal, Mark C.; Heron, Benedicte; Kim, Linda E.; Marco, Elysa J.; Mignot, Cyril; Monaghan, Kristin G.; Myers, Kenneth A.; Parikh, Sumit; Quinonez, Shane C.; Rajabi, Farrah; Shankar, Suma P.; Shinawi, Marwan S.; van de Kamp, Jiddeke J. P.; Veerapandiyan, Aravindhan; Waldman, Amy T.; Graf, William D.
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
AMERICAN JOURNAL OF HEMATOLOGY
IF9.9
2021-07-1128
OAAI
Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma P.; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-01154
OAAI
Dimmock, David; Caylor, Sara; Waldman, Bryce; Benson, Wendy; Ashburner, Christina; Carmichael, Jason L.; Carroll, Jeanne; Cham, Elaine; Chowdhury, Shimul; Cleary, John; D'Harlingue, Arthur; Doshi, A.; Ellsworth, Katarzyna; Galarreta, Carolina, I; Hobbs, Charlotte; Houtchens, Kathleen; Hunt, Juliette; Joe, Priscilla; Joseph, Maries; Kaplan, Robert H.; Kingsmore, Stephen F.; Knight, Jason; Kochhar, Aaina; Kronick, Richard G.; Limon, Jolie; Martin, Madelena; Rauen, Katherine A.; Schwarz, Adam; Shankar, Suma P.; Spicer, Rosanna; Rojas, Mario Augusto; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Zadeh, Neda; Farnaes, Lauge
Individual patient responses to eliglustat in treatment-naive adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial
MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-02-010
PREAI
Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

低剂量半乳糖苷酶 β 治疗小儿法布里病男性患者的5年随机对照试验

MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-05-0128
OAAI
Ramaswami, Uma; Bichet, Daniel G.; Clarke, Lorne A.; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano M.; Haack, Kristina An; Hopkin, Robert J.; Mauer, Michael; Najafian, Behzad; Scott, C. Ronald; Shankar, Suma P.; Thurberg, Beth L.; Tondel, Camilla; Tylki-Szyrnanska, Anna; Benichou, Bernard; Wijburg, Frits A.
Outcomes after 18 months of eliglustat therapy in treatment-naive adults with Gaucher disease type 1: The phase 3 ENGAGE trial
AMERICAN JOURNAL OF HEMATOLOGY
IF9.9
2017-10-0365
OAAI
Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma P.; Baris, Hagit; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Pastores, Gregory; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Gaemers, Sebastiaan J. M.; Tayag, Regina; Peterschmitt, M. Judith
Long-term results of ENGAGE: a phase 3, randomized, double blind, placebo-controlled, multi center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease
MOLECULAR GENETICS AND METABOLISM
IF3.5
2017-01-013
PREAI
Mistry, Pramod K.; Lukina, Elena; Ben Turkia, Hadhami; Shankar, Suma; Feldman, Hagit Baris; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Lau, Heather; Petakov, Milan; Assouline, Sarit; Balwani, Manisha; Danda, Sumita; Hadjiev, Evgueniy; Ortega, Andres; Wu, Yaoshi; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith

研究方向

暂未获取到该数据
K
Kathy Nicholls
H 指数:47论文数:262被引数:8,163
D
Dawn A. Laney
H 指数:15论文数:89被引数:1,579
D
Daniel G. Bichet
H 指数:73论文数:393被引数:2.1万
D
Derralynn Hughes
H 指数:74论文数:665被引数:1.8万
S
Seymour Packman
H 指数:52论文数:214被引数:9,824
N
Nina Skuban
H 指数:14论文数:101被引数:1,454
U
Ulla Feldt‐Rasmussen
H 指数:76论文数:867被引数:2.3万
P
Paul Harmatz
H 指数:65论文数:532被引数:1.4万
Ö
Özlem Göker-Alpan
H 指数:41论文数:262被引数:6,250
G
Gregory M. Pastores
H 指数:61论文数:323被引数:1.3万