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G

Gabriela M. Repetto

universidad del desarrollo
H指数:32
被引数:4,635

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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L的缺失破坏了神经元转录，并导致神经发育障碍

BRAIN
IF11.7
2025-12-010
PRE
Maroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
HUMAN MOLECULAR GENETICS
IF3.2
2024-04-260
PRE
Alpaslan, Murat; Fastre, Elodie; Mestre, Sandrine; van Haeringen, Arie; Repetto, Gabriela M.; Keymolen, Kathelijn; Boon, Laurence M.; Belva, Florence; Giacalone, Guido; Revencu, Nicole; Sznajer, Yves; Riches, Katie; Keeley, Vaughan; Mansour, Sahar; Gordon, Kristiana; Martin-Almedina, Silvia; Dobbins, Sara; Ostergaard, Pia; Quere, Isabelle; Brouillard, Pascal; Vikkula, Miikka
Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study

22 q11.2缺失综合征和相关精神病的强大且可复制的功能性脑特征: 一项基于深度神经网络的多队列研究

MOLECULAR PSYCHIATRY
IF10.1
2024-04-120
PRE
Supekar, Kaustubh; de los Angeles, Carlo; Ryali, Srikanth; Kushan, Leila; Schleifer, Charlie; Repetto, Gabriela; Crossley, Nicolas A.; Simon, Tony; Bearden, Carrie E.; Menon, Vinod
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
IF8.4
2024-03-012
PRE
Freud, Lindsay R.; Galloway, Stephanie; Crowley, Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kazmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl -Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Buil, Ana Achon; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; -Haug, Louise Wilkins; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Grati, Francesca Romana; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M.
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
NATURE GENETICS
IF31.8
2024-02-084
OA
Baynam, Gareth; Julkowska, Daria; Bowdin, Sarah; Hermes, Azure; McMaster, Christopher R.; Prichep, Elissa; Richer, Etienne; van der Westhuizen, Francois H.; Repetto, Gabriela M.; Malherbe, Helen; Reichardt, Juergen K. V.; Arbour, Laura; Hudson, Maui; du Plessis, Kelly; Haendel, Melissa; Wilcox, Phillip; Lynch, Sally Ann; Rind, Shamir; Easteal, Simon; Estivill, Xavier; Caron, Nadine; Chongo, Meck; Thomas, Yarlalu; Letinturier, Mary Catherine V.; Vorster, Barend Christiaan
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

基于源的形态计量学揭示了22 q11.2缺失综合征的结构性脑模式异常

HUMAN BRAIN MAPPING
IF3.3
2024-01-124
OAAI
Ge, Ruiyang; Ching, Christopher R. K.; Bassett, Anne S.; Kushan, Leila; Antshel, Kevin M.; van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy J.; Campbell, Linda E.; Chow, Eva W. C.; Craig, Michael; Crossley, Nicolas A.; Cunningham, Adam; Daly, Eileen; Doherty, Joanne L.; Durdle, Courtney A.; Emanuel, Beverly S.; Fiksinski, Ania; Forsyth, Jennifer K.; Fremont, Wanda; Goodrich-Hunsaker, Naomi J.; Gudbrandsen, Maria; Gur, Raquel E.; Jalbrzikowski, Maria; Kates, Wendy R.; Lin, Amy; Linden, David E. J.; Mccabe, Kathryn L.; McDonald-McGinn, Donna; Moss, Hayley; Murphy, Declan G.; Murphy, Kieran C.; Owen, Michael J.; Villalon-Reina, Julio E.; Repetto, Gabriela M.; Roalf, David R.; Ruparel, Kosha; Schmitt, J. Eric; Schuite-Koops, Sanne; Angkustsiri, Kathleen; Sun, Daqiang; Vajdi, Ariana; van den Bree, Marianne; Vorstman, Jacob; Thompson, Paul M.; Vila-Rodriguez, Fidel; Bearden, Carrie E.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-01-046
OAAI
Poli, M. Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martin, Luz M.; Encina, Gonzalo; Bohme, Daniela; Faundes, Victor; Zavala, M. Jesus; Hasbun, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, Gabriela M.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

治疗22 q11.2缺失综合征成人的更新临床实践建议

GENETICS IN MEDICINE
IF6.2
2023-03-0129
OAAI
Boot, Erik; Oskarsdottir, Solveig; Loo, Joanne C. Y.; Crowley, Terrence Blaine; Orchanian-Cheff, Ani; Andrade, Danielle M.; Arganbright, Jill M.; Castelein, Rene M.; Cserti-Gazdewich, Christine; de Reuver, Steven; Fiksinski, Ania M.; Klingberg, Gunilla; Lang, Anthony E.; Mascarenhas, Maria R.; Moss, Edward M.; Nowakowska, Beata Anna; Oechslin, Erwin; Palmer, Lisa; Repetto, Gabriela M.; Reyes, Nikolai Gil D.; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen E.; Swillen, Ann; van Amelsvoort, Therese A. M. J.; Van Batavia, Jason P.; Vingerhoets, Claudia; McDonald-McGinn, Donna M.; Bassett, Anne S.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

管理22 q11.2缺失综合征儿童的更新临床实践建议

GENETICS IN MEDICINE
IF6.2
2023-03-0129
OA
Oskarsdottir, Solveig; Boot, Erik; Crowley, Terrence Blaine; Loo, Joanne C. Y.; Arganbright, Jill M.; Armando, Marco; Baylis, Adriane L.; Breetvelt, Elemi J.; Castelein, Rene M.; Chadehumbe, Madeline; Cielo, Christopher M.; de Reuver, Steven; Eliez, Stephan; Fiksinski, Ania M.; Forbes, Brian J.; Gallagher, Emily; Hopkins, Sarah E.; Jackson, Oksana A.; Levitz-Katz, Lorraine; Klingberg, Gunilla; Lambert, Michele P.; Marino, Bruno; Mascarenhas, Maria R.; Moldenhauer, Julie; Moss, Edward M.; Nowakowska, Beata Anna; Orchanian-Cheff, Ani; Putotto, Carolina; Repetto, Gabriela M.; Schindewolf, Erica; Schneider, Maude; Solot, Cynthia B.; Sullivan, Kathleen E.; Swillen, Ann; Unolt, Marta; Van Batavia, Jason P.; Vingerhoets, Claudia; Vorstman, Jacob; Bassett, Anne S.; McDonald-McGinn, Donna M.
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis

有和没有特应性皮炎的智利人群中丝拉素功能丧失变异体的患病率

INTERNATIONAL JOURNAL OF DERMATOLOGY
IF3.2
2021-09-047
PRE
Cardenas, Geovanna V.; Iturriaga, Carolina; Hernandez, Caroll D.; Tejos-Bravo, Macarena; Perez-Mateluna, Guillermo; Cabalin, Carolina; Urzua, Marcela; Venegas-Salas, Luis F.; Fraga, Juan P.; Rebolledo, Boris; Poli, Maria C.; Repetto, Gabriela M.; Casanello, Paola; Castro-Rodriguez, Jose A.; Borzutzky, Arturo
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
HUMAN MUTATION
IF3.7
2021-05-1119
OAAI
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria; Ebrahimi-Fakhari, Darius
A normative chart for cognitive development in a genetically selected population

在遗传选择的人群中认知发展的规范性图表

NEUROPSYCHOPHARMACOLOGY
IF7.1
2021-03-2917
OAAI
Fiksinski, Ania M.; Bearden, Carrie E.; Bassett, Anne S.; Kahn, Rene S.; Zinkstok, Janneke R.; Hooper, Stephen R.; Tempelaar, Wanda; McDonald-McGinn, Donna; Swillen, Ann; Emanue, Beverly; Morrow, Bernice; Gur, Raquel; Chow, Eva; van den Bree, Marianne; Vermeesch, Joris; Warren, Stephen; Owen, Michael; van Amelsvoor, Therese; Eliez, Stephan; Gothelf, Doron; Celso, Arango; Kates, Wendy; Simon, Tony; Murphy, Kieran; Repetto, Gabriela; Sune, Damian Heine; Vicar, Stefano; Cubells, Joseph; Armando, Marco; Philip, Nicole; Campbell, Linda; Garcia-Minaur, Sixto; Schneider, Maude; Shashi, Vandana; Vorstman, Jacob; Breetvelt, Elemi J.

研究方向

暂未获取到该数据
D
Donna M. McDonald‐McGinn
H 指数:85论文数:502被引数:2.9万
A
Ann Swillen
H 指数:44论文数:316被引数:1.0万
C
Carrie E. Bearden
H 指数:88论文数:889被引数:3.1万
A
Anne S. Bassett
H 指数:73论文数:338被引数:2.0万
W
Wendy R. Kates
H 指数:53论文数:166被引数:8,279
E
Eva W.C. Chow
H 指数:50论文数:131被引数:8,673
J
Jacob Vorstman
H 指数:54论文数:248被引数:1.6万
R
Raquel E. Gur
H 指数:144论文数:1,168被引数:8.3万
B
Beverly S. Emanuel
H 指数:82论文数:419被引数:2.4万
L
Linda Campbell
H 指数:54论文数:215被引数:1.5万