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R

Reymundo Lozano

Department of Genetics and Genomic Sciences
H指数:23
被引数:1,752

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

第五届FMR1前突变国际会议对脆性X前突变相关条件的见解和建议

CELLS
IF5.2
2023-09-2128
OAAI
Tassone, Flora; Protic, Dragana; Allen, Emily Graves; Archibald, Alison D.; Baud, Anna; Brown, Ted W.; Budimirovic, Dejan B.; Cohen, Jonathan; Dufour, Brett; Eiges, Rachel; Elvassore, Nicola; Gabis, Lidia V.; Grudzien, Samantha J.; Hall, Deborah A.; Hessl, David; Hogan, Abigail; Hunter, Jessica Ezzell; Jin, Peng; Jiraanont, Poonnada; Klusek, Jessica; Kooy, R. Frank; Kraan, Claudine M.; Laterza, Cecilia; Lee, Andrea; Lipworth, Karen; Losh, Molly; Loesch, Danuta; Lozano, Reymundo; Mailick, Marsha R.; Manolopoulos, Apostolos; Martinez-Cerdeno, Veronica; Mclennan, Yingratana; Miller, Robert M.; Montanaro, Federica Alice Maria; Mosconi, Matthew W.; Potter, Sarah Nelson; Raspa, Melissa; Rivera, Susan M.; Shelly, Katharine; Todd, Peter K.; Tutak, Katarzyna; Wang, Jun Yi; Wheeler, Anne; Winarni, Tri Indah; Zafarullah, Marwa; Hagerman, Randi J.; Kalyuzhny, Alexander E.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
HUMAN MUTATION
IF3.7
2021-12-1115
OA
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
HUMAN MOLECULAR GENETICS
IF3.2
2021-09-2443
OAAI
Levy, Tess; Foss-Feig, Jennifer H.; Betancur, Catalina; Siper, Paige M.; Trelles-Thorne, Maria Pilar; Halpern, Danielle; Frank, Yitzchak; Lozano, Reymundo; Layton, Christina; Britvan, Bari; Bernstein, Jonathan A.; Buxbaum, Joseph D.; Berry-Kravis, Elizabeth; Powell, Craig M.; Srivastava, Siddharth; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander
Prospective and detailed behavioral phenotyping in DDX3X syndrome
MOLECULAR AUTISM
IF5.5
2021-05-1632
OAAI
Tang, Lara; Levy, Tess; Guillory, Sylvia; Halpern, Danielle; Zweifach, Jessica; Giserman-Kiss, Ivy; Foss-Feig, Jennifer H.; Frank, Yitzchak; Lozano, Reymundo; Belani, Puneet; Layton, Christina; Lerman, Bonnie; Frowner, Emanuel; Breen, Michael S.; De Rubeis, Silvia; Kostic, Ana; Kolevzon, Alexander; Buxbaum, Joseph D.; Siper, Paige M.; Grice, Dorothy E.
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

由SHANK3点突变引起的Phelan-McDermid综合征的遗传和临床谱的描述

MOLECULAR AUTISM
IF5.5
2018-04-27134
OAAI
De Rubeis, Silvia; Siper, Paige M.; Durkin, Allison; Weissman, Jordana; Muratet, Francois; Halpern, Danielle; Trelles, Maria del Pilar; Frank, Yitzchak; Lozano, Reymundo; Wang, A. Ting; Holder, J. Lloyd, Jr.; Betancur, Catalina; Buxbaum, Joseph D.; Kolevzon, Alexander
Prospective investigation of FOXP1 syndrome
MOLECULAR AUTISM
IF5.5
2017-10-2461
OAAI
Siper, Paige M.; De Rubeis, Silvia; Trelles, Maria del Pilar; Durkin, Allison; Di Marino, Daniele; Muratet, Francois; Frank, Yitzchak; Lozano, Reymundo; Eichler, Evan E.; Kelly, Morgan; Beighley, Jennifer; Gerdts, Jennifer; Wallace, Arianne S.; Mefford, Heather C.; Bernier, Raphael A.; Kolevzon, Alexander; Buxbaum, Joseph D.

研究方向

暂未获取到该数据
J
Joseph D. Buxbaum
H 指数:140论文数:796被引数:11.8万
A
Alexander Kolevzon
H 指数:51论文数:225被引数:1.9万
P
Paige M. Siper
H 指数:26论文数:93被引数:5,201
Y
Yitzchak Frank
H 指数:29论文数:100被引数:2,979
D
Dejan B. Budimirovic
H 指数:23论文数:89被引数:2,107
D
Danielle Halpern
H 指数:20论文数:46被引数:4,381
F
Flora Tassone
H 指数:86论文数:451被引数:3.0万
S
Silvia De Rubeis
H 指数:40论文数:129被引数:1.7万
R
Randi J. Hagerman
H 指数:114论文数:813被引数:4.4万
T
Tess Levy
H 指数:19论文数:65被引数:2,929