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B

Berta Almoguera

health research institute-fundacion jimenez diaz
H指数:28
被引数:3,914

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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2相关Lessel-Kreienkamp神经发育综合征的临床与分子谱

Genome Medicine
IF11.2
2026-08-220
OA
Debora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

基于表观遗传特征指导的系统分析以确定CHD8错义变异的临床意义和后果

European Journal of Human Genetics
IF4.6
2026-08-100
OA
Molly Godfrey; Michael A. Levy; Christopher Campbell; Leigh Demain; Sarah Jenkinson; Sarah Hilton; Berta Almoguera; Meena Balasubramanian; Emilia K. Bijlsma; Fiona Blanco-Kelly; Emma M. M. Burkitt Wright; Gerarda Cappuccio; Kate E. Chandler; Koen Devriendt; Aranzazu Diaz de Bustamante; Maria K. Haanpää; Carolin Hörnig; Elizabeth A. Jones; Sinem Kocagil; Hannele Koillinen; Dhanya Lakshmi Narayanan; Emanuela Leonardi; Rajesh Madhu; Purvi Majethia; Alessandra Murgia; Elisabeth Rosser; Markus Schuelke; Anju Shukla; Emma Soengas-Gonda; Sarah Stewart; Yves Sznajer; Saoud Tahsin Swafiri; Maria Margarida Venancio; Renzo Guerrini; Martino Montomoli; Annalisa Vetro; Thomas Wright; David Gokhale; Bekim Sadikovic; Sofia Douzgou Houge; Siddharth Banka
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders

LMSz方法——一种可自动化的、可扩展的构建基因特异性生长曲线的方法，适用于罕见疾病

European Journal of Human Genetics
IF4.6
2025-10-130
OA
Karen J. Low; Julia Foreman; Rachel J. Hobson; Hannah Kwuo; Elena Martinez-Cayuelas; Berta Almoguera; Purin Marin-Reina; Stefano G. Caraffi; Livia Garavelli; Emily Woods; Meena Balasubramanian; Allan Bayat; Charlotte W. Ockeloen; Caroline M. Wright; Helen V. Firth; Tim J. Cole
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients
BIOMEDICINES
IF3.9
2025-02-210
OAAI
Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-07-011
OAAI
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-02-0712
PRE
Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-11-2912
OA
Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta
Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study
ANDROLOGY
IF3.4
2022-11-282
OA
Lopez-Rodriguez, Rosario; Ruiz-Hornillos, Javier; Corton, Marta; Almoguera, Berta; Minguez, Pablo; Elena Perez-Tomas, Maria; Barreda-Sanchez, Maria; Mancebo, Esther; Ondo, Lorena; Martinez-Ramas, Andrea; Fernandez-Caballero, Lidia; Carlos Taracido-Fernandez, Juan; Herrero-Gonzalez, Antonio; Mahillo, Ignacio; Paz-Artal, Estela; Guillen-Navarro, Encarna; Ayuso, Carmen
Novel genes and sex differences in COVID-19 severity

新型冠状病毒肺炎严重程度的新基因和性别差异

HUMAN MOLECULAR GENETICS
IF3.2
2022-06-1648
OAAI
Cruz, Raquel; Diz-de Almeida, Silvia; Lopez de Heredia, Miguel; Quintela, Ines; Ceballos, Francisco C.; Lorenzo-Salazar, Guillermo M.; Gonzalez-Montelongo, Rafaela; Gago-Dominguez, Manuela; Sevilla Porras, Marta; Tenorio Castano, Jair Antonio; Nevado, Julian; Maria Aguado, Jose; Aguilar, Carlos; Aguilera-Albesa, Sergio; Almadana, Virginia; Almoguera, Berta; Alvarez, Nuria; Andreu-Bernabeu, Alvaro; Arana-Arri, Eunate; Arango, Celso; Arranz, Maria J.; Artiga, Maria-Jesus; Baptista-Rosas, Raul C.; Barreda-Sanchez, Maria; Belhassen-Garcia, Moncef; Bezerra, Joao F.; Bezerra, Marcos A. C.; Boix-Palop, Lucia; Brion, Maria; Brugada, Ramon; Bustos, Matilde; Calderon, Enrique J.; Carbonell, Cristina; Castano, Luis; Castelao, Jose E.; Conde-Vicente, Rosa; Cordero-Lorenzana, M. Lourdes; Cortes-Sanchez, Jose L.; Corton, Marta; Darnaude, M. Teresa; De Martino-Rodriguez, Alba; del Campo-Perez, Victor; Diaz de Bustamante, Aranzazu; Dominguez-Garrido, Elena; Luchessi, Andre D.; Eiros, Rocio; Estigarribia Sanabria, Gladys Mercedes; Carmen Farinas, Maria; Fernandez-Robelo, Uxia; Fernandez-Rodriguez, Amanda; Fernandez-Villa, Tania; Gil-Fournier, Belen; Gomez-Arrue, Javier; Gonzalez Alvarez, Beatriz; Gonzalez Bernaldo de Quiros, Fernan; Gonzalez-Penas, Javier; Gutierrez-Bautista, Juan F.; Jose Herrero, Maria; Herrero-Gonzalez, Antonio; Jimenez-Sousa, Maria A.; Claudia Lattig, Maria; Liger Borja, Anabel; Lopez-Rodriguez, Rosario; Mancebo, Esther; Martin-Lopez, Caridad; Martin, Vicente; Martinez-Nieto, Oscar; Martinez-Lopez, Iciar; Martinez-Resendez, Michel F.; Martinez-Perez, Angel; Mazzeu, Juliana F.; Merayo Macias, Eleuterio; Minguez, Pablo; Moreno Cuerda, Victor; Silbiger, Vivian N.; Oliveira, Silviene F.; Ortega-Paino, Eva; Parellada, Mara; Paz-Artal, Estela; Santos, Ney P. C.; Perez-Matute, Patricia; Perez, Patricia; Perez-Tomas, M. Elena; Perucho, Teresa; Pinsach-Abuin, Mel Lina; Pompa-Mera, Ericka N.; Porras-Hurtado, Gloria L.; Pujol, Aurora; Ramiro Leon, Soraya; Resino, Salvador; Fernandes, Marianne R.; Rodriguez-Ruiz, Emilio; Rodriguez-Artalejo, Fernando; Rodriguez-Garcia, Jose A.; Ruiz Cabello, Francisco; Ruiz-Hornillos, Javier; Ryan, Pablo; Soria, Jose Manuel; Souto, Juan Carlos; Tamayo, Eduardo; Tamayo-Velasco, Alvaro; Carlos Taracido-Fernandez, Juan; Teper, Alejandro; Torres-Tobar, Lilian; Urioste, Miguel; Valencia-Ramos, Juan; Yanez, Zuleima; Zarate, Ruth; Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Butler-Laporte, Guillaume; Maya-Miles, Douglas; Bujanda, Luis; Bouysran, Youssef; Palom, Adriana; Ellinghaus, David; Martinez-Bueno, Manuel; Rolker, Selina; Amitrano, Sara; Roade, Luisa; Fava, Francesca; Spinner, Christoph D.; Prati, Daniele; Bernardo, David; Garcia, Federico; Darcis, Gilles; Fernandez-Cadenas, Israel; Holter, Jan Cato; Banales, Jesus M.; Frithiof, Robert; Duga, Stefano; Asselta, Rosanna; Pereira, Alexandre C.; Romero-Gomez, Manuel; Nafria-Jimenez, Beatriz; Hov, Johannes R.; Migeotte, Isabelle; Renieri, Alessandra; Planas, Anna M.; Ludwig, Kerstin U.; Buti, Maria; Rahmouni, Souad; Alarcon-Riquelme, Marta E.; Schulte, Eva C.; Franke, Andre; Karlsen, Tom H.; Valenti, Luca; Zeberg, Hugo; Richards, Brent; Ganna, Andrea; Boada, Merce; de Rojas, Itziar; Ruiz, Agustin; Sanchez-Juan, Pascual; Miguel Real, Luis; Guillen-Navarro, Encarna; Ayuso, Carmen; Gonzalez-Neira, Anna; Riancho, Jose A.; Rojas-Martinez, Augusto; Flores, Carlos; Lapunzina, Pablo; Carracedo, Angel
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (vol 11, pg 1526, 2021)
SCIENTIFIC REPORTS
IF3.9
2021-05-109
OAAI
Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J.; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2021-05-0118
OAAI
Utrero-Rico, Alberto; Ruiz-Hornillos, Javier; Gonzalez-Cuadrado, Cecilia; Rita, Claudia Geraldine; Almoguera, Berta; Minguez, Pablo; Herrero-Gonzalez, Antonio; Fernandez-Ruiz, Mario; Carretero, Octavio; Carlos Taracido-Fernandez, Juan; Lopez-Rodriguez, Rosario; Corton, Marta; Maria Aguado, Jose; Maria Villar, Luisa; Ayuso-Garcia, Carmen; Paz-Artal, Estela; Laguna-Goya, Rocio
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
SCIENTIFIC REPORTS
IF3.9
2021-03-1142
OAAI
Arteche-Lopez, A.; Avila-Fernandez, A.; Romero, R.; Riveiro-Alvarez, R.; Lopez-Martinez, M. A.; Gimenez-Pardo, A.; Velez-Monsalve, C.; Gallego-Merlo, J.; Garcia-Vara, I; Almoguera, Berta; Bustamante-Aragones, A.; Blanco-Kelly, F.; Tahsin-Swafiri, S.; Rodriguez-Pinilla, E.; Minguez, P.; Lorda, I; Trujillo-Tiebas, M. J.; Ayuso, C.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

西班牙6089遗传性视网膜营养不良影响病例的遗传景观及其治疗和扩展的流行病学意义

SCIENTIFIC REPORTS
IF3.9
2021-01-1597
OAAI
Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreno, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Perez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J.; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen
Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study
PLOS GENETICS
IF3.7
2020-03-3025
OAAI
Hu, Yao; Graff, Mariaelisa; Haessler, Jeffrey; Buyske, Steven; Bien, Stephanie A.; Tao, Ran; Highland, Heather M.; Nishimura, Katherine K.; Zubair, Niha; Lu, Yingchang; Verbanck, Marie; Hilliard, Austin T.; Klarin, Derek; Damrauer, Scott M.; Ho, Yuk-Lam; Wilson, Peter W. F.; Chang, Kyong-Mi; Tsao, Philip S.; Cho, Kelly; O'Donnell, Christopher J.; Assimes, Themistocles L.; Petty, Lauren E.; Below, Jennifer E.; Dikilitas, Ozan; Schaid, Daniel J.; Kosel, Matthew L.; Kullo, Iftikhar J.; Rasmussen-Torvik, Laura J.; Jarvik, Gail P.; Feng, Qiping; Wei, Wei-Qi; Larson, Eric B.; Mentch, Frank D.; Almoguera, Berta; Sleiman, Patrick M.; Raffield, Laura M.; Correa, Adolfo; Martin, Lisa W.; Daviglus, Martha; Matise, Tara C.; Ambite, Jose Luis; Carlson, Christopher S.; Do, Ron; Loos, Ruth J. F.; Wilkens, Lynne R.; Le Marchand, Loic; Haiman, Chris; Stram, Daniel O.; Hindorff, Lucia A.; North, Kari E.; Kooperberg, Charles; Cheng, Iona; Peters, Ulrike

研究方向

暂未获取到该数据
C
Carmen Ayuso
H 指数:68论文数:604被引数:1.8万
H
Håkon Håkonarson
H 指数:177论文数:1,492被引数:15.9万
M
Marta Cortón
H 指数:39论文数:177被引数:5,030
B
Brendan J. Keating
H 指数:65论文数:322被引数:1.5万
F
Fiona Blanco‐Kelly
H 指数:33论文数:103被引数:2,855
P
Pablo Mínguez
H 指数:36论文数:151被引数:1.2万
R
Rosario López‐Rodríguez
H 指数:23论文数:104被引数:2,214
J
John J. Connolly
H 指数:35论文数:178被引数:6,471
S
Saoud Tahsin Swafiri
H 指数:15论文数:34被引数:775
G
Gail P. Jarvik
H 指数:107论文数:679被引数:4.5万