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S

Stefanie Perrier

boston children's hospital
H指数:8
被引数:186

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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Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Mackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRA-dependent POLR3B exon-loss genetic model
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Michell-Robinson, Mackenzie; Watt, Kristin; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue; Liu, Hanwen; Cox, Timothy; Mueller, Christoph; Kennedy, Timothy; Coulombe, Benoit; Rudko, David; Trainor, Paul; Bernard, Genevieve
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Polr3b小鼠脑白质营养不良模型的低髓化，低骨性和颅面异常

BRAIN
IF11.7
2023-08-283
OAAI
Michell-Robinson, Mackenzie A.; Watt, Kristin E. N.; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue A.; Liu, Hanwen; Cox, Timothy C.; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David A.; Trainor, Paul A.; Bernard, Genevieve
Pdgfr α-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivo
NEUROLOGY
IF8.5
2023-04-250
PRE
Michell-Robinson, Mackenzie A.; Watt, Kristin E. N.; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue A.; Liu, Hanwen; Cox, Timothy; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David; Trainor, Paul A.; Bernard, Genevieve
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2020-10-0132
OAAI
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
NEUROLOGY-GENETICS
IF3.7
2020-06-0123
OAAI
Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; Tejera-Martin, Ingrid; Monton, Fernando I.; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Genevieve

研究方向

暂未获取到该数据
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,771
M
Mackenzie A. Michell‐Robinson
H 指数:9论文数:24被引数:1,026
J
Julia Macintosh
H 指数:5论文数:15被引数:107
L
Luan T. Tran
H 指数:15论文数:39被引数:877
L
Lama Darbelli
H 指数:9论文数:24被引数:376
T
Timothy E. Kennedy
H 指数:62论文数:245被引数:1.3万
B
Benoit Coulombe
H 指数:42论文数:256被引数:7,345
T
Timothy C. Cox
H 指数:57论文数:237被引数:9,964
C
Christoph W. Müller
H 指数:59论文数:189被引数:1.3万
P
Paul A. Trainor
H 指数:62论文数:338被引数:1.2万