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F

Federico Tessadori

Utrecht University
H指数:30
被引数:3,214

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荣誉奖项

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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization
JCI INSIGHT
IF6.1
2023-09-082
OA
Ruijmbeek, Claudine W. B.; Housley, Filomena; Idrees, Hafiza; Housley, Michael P.; Pestel, Jenny; Keller, Leonie; Lai, Jason K. H.; Linde, Herma C. van der; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N.; Almesned, Abdulrahman; Dalinghaus, Michiel; van den Bersselaar, Lisa M.; van Slegtenhorst, Marjon A.; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J.; Stainier, Didier Y. R.; Verhagen, Judith M. A.; Reischauer, Sven
Macrocephaly and developmental delay caused by missense variants in RAB5C

RAB5C的错义变异引起的大头畸形和发育延迟

HUMAN MOLECULAR GENETICS
IF3.2
2023-08-083
OAAI
Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0114
OAAI
Tessadori, 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
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

常见的遗传变异会导致大动脉转位的风险

CIRCULATION RESEARCH
IF16.2
2022-01-2124
OAAI
Skoric-Milosavljevic, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia, I; Tjong, Fleur V. Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A. J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q. C. M.; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M.; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Muller-Nurasyid, Martina; Vliegen, Hubert W.; Konings, Thelma C.; van Melle, Joost P.; van Dijk, Arie P. J.; van Kimmenade, Roland R. J.; Roos-Hesselink, Jolien W.; Sieswerda, Gertjan; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans Markus; Al-Chalabi, Ammar; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Evans, Sylvia; Nobrega, Marcelo A.; Aneas, Ivy; Radivojkov-Blagojevic, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, M. Lynn; Smythe, John F.; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J.; Chaix, Marie A.; Kline, Jennie; Bassett, Anne S.; Andelfinger, Gregor; van der Palen, Roel L. F.; Bouvagnet, Patrice; Clur, Sally-Ann B.; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S.; Winlaw, David S.; Bauer, Ulrike M. M.; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J.; Tanck, Michael W. T.; Bakkers, Jeroen; Christoffels, Vincent M.; Boogerd, Cornelis J.; Postma, Alex, V; Bezzina, Connie R.
Zebrafish prrx1a mutants have normal hearts
NATURE
IF48.5
2020-09-2316
OAAI
Tessadori, Federico; de Bakker, Dennis E. M.; Barske, Lindsey; Nelson, Nellie; Algra, Hermine A.; Willekers, Sven; Nichols, James T.; Crump, J. Gage; Bakkers, Jeroen
Single-cell analysis uncovers that metabolic reprogramming by ErbB2 signaling is essential for cardiomyocyte proliferation in the regenerating heart
ELIFE
IF0
2019-12-23197
OA
Honkoop, Hessel; de Bakker, Dennis E. M.; Aharonov, Alla; Kruse, Fabian; Shakked, Avraham; Nguyen, Phong D.; de Heus, Cecilia; Garric, Laurence; Muraro, Mauro J.; Shoffner, Adam; Tessadori, Federico; Peterson, Joshua Craiger; Noort, Wendy; Bertozzi, Alberto; Weidinger, Gilbert; Posthuma, George; Grun, Dominic; van der Laarse, Willem J.; Klumperman, Judith; Jaspers, Richard T.; Poss, Kenneth D.; van Oudenaarden, Alexander; Tzahor, Eldad; Bakkers, Jeroen
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
NATURE COMMUNICATIONS
IF15.7
2019-10-0137
OAAI
Smeland, Marie F.; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Asmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Mueller, Kai Ivar; Dybesland, Andreas Rosenberger; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs
Identification of human D lactate dehydrogenase deficiency

人D-乳酸脱氢酶缺乏症的鉴定

NATURE COMMUNICATIONS
IF15.7
2019-04-0160
OAAI
Monroe, Glen R.; van Eerde, Albertien M.; Tessadori, Federico; Duran, Karen J.; Savelberg, Sanne M. C.; van Alfen, Johanna C.; Terhal, Paulien A.; van der Crabben, Saskia N.; Lichtenbelt, Klaske D.; Fuchs, Sabine A.; Gerrits, Johan; van Roosmalen, Markus J.; van Gassen, Koen L.; van Aalderen, Mirjam; Koot, Bart G.; Oostendorp, Marlies; Duran, Marinus; Visser, Gepke; de Koning, Tom J.; Cali, Francesco; Bosco, Paolo; Geleijns, Karin; de Sain-van der Velden, Monique G. M.; Knoers, Nine, V; Bakkers, Jeroen; Verhoeven-Duif, Nanda M.; van Haaften, Gijs; Jans, Judith J.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
HUMAN MOLECULAR GENETICS
IF3.2
2018-09-1833
OAAI
Rumping, Lynne; Tessadori, Federico; Pouwels, Petra J. W.; Vringer, Esmee; Wijnen, Jannie P.; Bhogal, Alex A.; Savelberg, Sanne M. C.; Duran, Karen J.; Bakkers, Mark J. G.; Ramos, Ruben J. J.; Schellekens, Peter A. W.; Kroes, Hester Y.; Klomp, Dennis W. J.; Black, Graeme C. M.; Taylor, Rachel L.; Bakkers, Jeroen P. W.; Prinsen, Hubertus C. M. T.; van der Knaap, Marjo S.; Dansen, Tobias B.; Rehmann, Holger; Zwartkruis, Fried J. T.; Houwen, Roderick H. J.; van Haaften, Gijs; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.; van Hasselt, Peter M.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2018-01-1842
OAAI
Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hulya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Richieri-Costa, Antonio; Baas, Annette F.; Breugem, Corstiaan C.; Duran, Karen; Massink, Maarten; Derksen, Patrick W. B.; Van IJcken, Wilfred F. J.; van Unen, Leontine; Santos-Simarro, Fernando; Lapunzina, Pablo; Gil-da Silva Lopes, Vera L.; Lustosa-Mendes, Elaine; Krall, Max; Slavotinek, Anne; Martinez-Glez, Victor; Bakkers, Jeroen; Van Gassen, Koen L. I.; de Klein, Annelies; van den Boogaard, Marie-Jose H.; van Haaften, Gijs
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (vol 99, pg 704, 2016)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-09-0114
OAAI
Lodder, Elisabeth M.; De Nittis, Pasquelena; Koopman, Charlotte D.; Wiszniewski, Wojciech; de Souza, Carolina Fischinger Moura; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A.; Boualla, Lamiae; Blom, Nico A.; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Akdemir, Zeynep Hande Coban; Fish, Richard J.; Eldomery, Mohammad K.; Ratbi, Ilham; Wilde, Arthur A. M.; de Boer, Teun; Simonds, William F.; Neerman-Arbez, Marguerite; Sutton, V. Reid; Kok, Fernando; Lupski, James R.; Reymond, Alexandre; Bezzina, Connie R.; Bakkers, Jeroen; Merla, Giuseppe

研究方向

暂未获取到该数据
J
Jeroen Bakkers
H 指数:55论文数:179被引数:9,868
G
Gijs van Haaften
H 指数:45论文数:117被引数:6,575
P
Paul Fransz
H 指数:47论文数:135被引数:7,308
K
Karen Duran
H 指数:33论文数:81被引数:3,365
V
Vincent M. Christoffels
H 指数:75论文数:331被引数:1.8万
S
Sanne M. C. Savelberg
H 指数:13论文数:18被引数:827
R
Roel van Driel
H 指数:66论文数:256被引数:1.3万
C
Connie R. Bezzina
H 指数:76论文数:413被引数:2.2万
P
Phil Barnett
H 指数:51论文数:214被引数:7,712
M
Malou van den Boogaard
H 指数:13论文数:37被引数:1,122