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R

Rossana Sanchez Russo

Emory University
H指数:11
被引数:432

个人简介

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教育背景

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工作经历

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荣誉奖项

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Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies

Pegzilarginase在精氨酸酶1缺乏症中的长期疗效和耐受性：两项国际多中心开放标签扩展研究的结果

Journal of Inherited Metabolic Disease
IF3.8
2025-07-250
OA
Markey McNutt; Frank Rutsch; Rossana Sanchez Russo; Serena Gasperini; Spyros Batzios; Elisa Leão Teles; Anaïs Brassier; Jaya Ganesh; Andreas Schulze; Gregory M. Enns; Mattias Rudebeck
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2024-03-110
OAAI
Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
GENETICS IN MEDICINE
IF6.2
2021-05-0131
OAAI
Sanchez Russo, Rossana; Gambello, Michael J.; Murphy, Melissa M.; Aberizk, Katrina; Black, Emily; Burrell, T. Lindsey; Carlock, Grace; Cubells, Joseph F.; Epstein, Michael T.; Espana, Roberto; Goines, Katrina; Guest, Ryan M.; Klaiman, Cheryl; Koh, Sookyong; Leslie, Elizabeth J.; Li, Longchuan; Novacek, Derek M.; Saulnier, Celine A.; Sefik, Esra; Shultz, Sarah; Walker, Elaine; White, Stormi Pulver; Mulle, Jennifer Gladys
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Lamb-shaffer综合征的遗传和临床谱的扩大，这是由于SOX5单倍体不足引起的神经发育障碍

GENETICS IN MEDICINE
IF6.2
2020-03-0125
OAAI
Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel

研究方向

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A
Angela Wittenauer
H 指数:8论文数:21被引数:181
E
Elaine F. Walker
H 指数:82论文数:713被引数:2.6万
E
Elizabeth Bhoj
H 指数:33论文数:186被引数:3,776
J
Jennifer G. Mullé
H 指数:41论文数:154被引数:6,512
S
Sookyong Koh
H 指数:35论文数:95被引数:5,192
M
Melissa M. Murphy
H 指数:26论文数:103被引数:3,550
G
Gregory M. Enns
H 指数:56论文数:262被引数:1.0万
R
Rachel W. Linnemann
H 指数:16论文数:66被引数:1,084
S
Serena Gasperini
H 指数:28论文数:123被引数:2,401
E
Eileen Barr
H 指数:5论文数:14被引数:113