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F

Florencia Del Viso

Department of Pathology and Laboratory Medicine

13H-index
49Paper Count
1.1KCitation Count
Published Papers 13
Publication Date
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Further characterization of the BRSK2-associated neurodevelopmental disorder
errEuropean Journal of Human Genetics
IF4.6
err2026-07-27
err0
errOAAI
errPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
errGENETICS IN MEDICINE
IF6.2
err2023-12-01
err36
errOAAI
errRehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana
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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
errBRAIN
IF11.7
err2023-04-12
err5
errOAAI
errCalame, Daniel G.; Vadillo, Cristina Moreno; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A.; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel, I; Torres, Rosa J.; Prior, Carmen; Gomez-Gonzalez, Clara; Biskup, Saskia; Lupski, James R.; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T.
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-04-01
err14
errOAAI
errTessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
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RAPGEF5 Regulates Nuclear Translocation of β-Catenin
errDEVELOPMENTAL CELL
IF8.7
err2018-01-01
err71
errOAAI
errGriffin, John N.; del Viso, Florencia; Duncan, Anna R.; Robson, Andrew; Hwang, Woong; Kulkarni, Saurabh; Liu, Karen J.; Khokha, Mustafa K.
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Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia
errDEVELOPMENTAL CELL
IF8.7
err2016-09-01
err92
errOAAI
errdel Viso, Florencia; Huang, Fang; Myers, Jordan; Chalfant, Madeleine; Zhang, Yongdeng; Reza, Nooreen; Bewersdorf, Joerg; Lusk, C. Patrick; Khokha, Mustafa K.
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errSave
Codon identity regulates mRNA stability and translation efficiency during the maternal-to-zygotic transition
errEMBO JOURNAL
IF8.3
err2016-07-19
err218
errOAAI
errBazzini, Ariel A.; del Viso, Florencia; Moreno-Mateos, Miguel A.; Johnstone, Timothy G.; Vejnar, Charles E.; Qin, Yidan; Yao, Jun; Khokha, Mustafa K.; Giraldez, Antonio J.
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The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus
errPLOS GENETICS
IF3.7
err2015-03-10
err44
errOAAI
errGriffin, John N.; Sondalle, Samuel B.; del Viso, Florencia; Baserga, Susan J.; Khokha, Mustafa K.
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Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing
errBMC GENOMICS
IF3.7
err2012-11-21
err18
errOAAI
errdel Viso, Florencia; Bhattacharya, Dipankan; Kong, Yong; Gilchrist, Michael J.; Khokha, Mustafa K.
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Functional characterization of a sucrose:fructan 6-fructosyltransferase of the cold-resistant grass Bromus pictus by heterelogous expression in Pichia pastoris and Nicotiana tabacum and its involvement in freezing tolerance
errJOURNAL OF PLANT PHYSIOLOGY
IF4.1
err2011-03-01
err8
PREAI
errdel Viso, Florencia; Casabuono, Adriana C.; Couto, Alicia S.; Esteban Hopp, H.; Puebla, Andrea F.; Heinz, Ruth A.
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Cloning and functional characterization of a fructan 1-exohydrolase (1-FEH) in the cold tolerant Patagonian species Bromus pictus
errPLANTA
IF3.8
err2009-09-30
err13
PREAI
errdel Viso, Florencia; Puebla, Andrea F.; Esteban Hopp, H.; Amelia Heinz, Ruth
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Molecular Characterization of a Putative Sucrose:Fructan 6-Fructosyltransferase (6-SFT) of the Cold-Resistant Patagonian Grass Bromus pictus Associated With Fructan Accumulation Under Low Temperatures
errPLANT AND CELL PHYSIOLOGY
IF4
err2009-01-19
err26
errOAAI
errdel Viso, F.; Puebla, A. F.; Fusari, C. M.; Casabuono, A. C.; Couto, A. S.; Pontis, H. G.; Hopp, H. E.; Heinz, R. A.
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errSave
14-3-3 Proteins are components of the transcription complex of the ATEM1 promoter in Arabidopsis
errPLANTA
IF3.8
err2007-08-16
err0
PREAI
errdel Viso, Florencia; Casaretto, Jose A.; Quatrano, Ralph S.
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
J
James R. Lupski
H-index: 144 · Papers: 1.1K
H
Heidi L. Rehm
H-index: 100 · Papers: 522
V
Valérie Cormier‐Daire
H-index: 99 · Papers: 1.1K
A
André Reis
H-index: 95 · Papers: 1.0K
A
Andrew O.M. Wilkie
H-index: 89 · Papers: 465
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