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Items: 1 to 20 of 37

1.
Common Genetic Variation and Antidepressant Efficacy in Major Depressive Disorder: A Meta-Analysis of Three Genome-Wide Pharmacogenetic Studies
GENDEP Investigators, Rudolf Uher, Katherine E. Tansey, Marcella Rietschel, Neven Henigsberg, Wolfgang Maier, Ole Mors, Joanna Hauser, Anna Placentino, Daniel Souery, Anne Farmer, Katherine J. Aitchison, Ian Craig, Peter McGuffin, Cathryn M. Lewis, MARS Investigators, Marcus Ising, Susanne Lucae, Elisabeth B. Binder, Stefan Kloiber, Florian Holsboer, Bertram Müller-Myhsok, STAR*D Investigators, Stephan Ripke, Steven P. Hamilton, Jared Soundy, Gonzalo Laje, Francis J. McMahon, Maurizio Fava, A. John Rush, Roy H. Perlis
Am J Psychiatry. Author manuscript; available in PMC 2023 Aug 11.
Published in final edited form as: Am J Psychiatry. 2013 Feb; 170(2): 207–217. doi: 10.1176/appi.ajp.2012.12020237
PMCID:
PMC10416089
AbstractArticlePDF–1.4M
2.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
eBioMedicine. 2022 Sep; 83: 104234. Published online 2022 Aug 24. doi: 10.1016/j.ebiom.2022.104234
PMCID:
PMC9429545
AbstractArticlePDF–2.6M
3.
Early-Onset Epilepsy and SUDEP With Cardiac Arrhythmia in Mice Carrying the EIEE47 Gain-of-Function Fhf1(Fgf12) Missense Mutation
Jana Velíšková, Christopher Marra, Yue Liu, Akshay Shekhar, David S. Park, Vasilisa Iatckova, Ying Xie, Glenn I. Fishman, Libor Velíšek, Mitchell Goldfarb
Epilepsia. Author manuscript; available in PMC 2022 Jul 1.
Published in final edited form as: Epilepsia. 2021 Jul; 62(7): 1546–1558. Published online 2021 May 13. doi: 10.1111/epi.16916
PMCID:
PMC8483975
AbstractArticlePDF–1.1M
4.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio
Epilepsia. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582
PMCID:
PMC8168379
AbstractArticlePDF–908K
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
Ca2+-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors
Ryan Mahling, Cade R. Rahlf, Samuel C. Hansen, Matthew R. Hayden, Madeline A. Shea
J Biol Chem. 2021 Jan-Jun; 296: 100458. Published online 2021 Feb 24. doi: 10.1016/j.jbc.2021.100458
PMCID:
PMC8059062
AbstractArticlePDF–5.3M
7.
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
Marjolein H. Willemsen, Himanshu Goel, Judith S. Verhoeven, Hilde M. H. Braakman, Nicole de Leeuw, Alison Freeth, Berge A. Minassian
Epilepsia Open. 2020 Jun; 5(2): 301–306. Published online 2020 May 9. doi: 10.1002/epi4.12396
PMCID:
PMC7278552
AbstractArticlePDF–726K
8.
FHF1 is a bona fide fibroblast growth factor that activates cellular signaling in FGFR-dependent manner
Martyna Sochacka, Lukasz Opalinski, Jakub Szymczyk, Marta B. Zimoch, Aleksandra Czyrek, Daniel Krowarsch, Jacek Otlewski, Malgorzata Zakrzewska
Cell Commun Signal. 2020; 18: 69. Published online 2020 May 1. doi: 10.1186/s12964-020-00573-2
PMCID:
PMC7193404
AbstractArticlePDF–1.5M
9.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
10.
Novel copy-number variants in a population-based investigation of classic heterotaxy
Shannon L. Rigler, Denise M. Kay, Robert J. Sicko, Ruzong Fan, Aiyi Liu, Michele Caggana, Marilyn L. Browne, Charlotte M. Druschel, Paul A. Romitti, Lawrence C. Brody, James L. Mills
Genet Med. Author manuscript; available in PMC 2018 Apr 16.
Published in final edited form as: Genet Med. 2015 May; 17(5): 348–357. Published online 2014 Sep 18. doi: 10.1038/gim.2014.112
PMCID:
PMC5901701
AbstractArticlePDF–899K
11.
De Novo FGF12 (Fibroblast Growth Factor 12) Functional Variation Is Potentially Associated With Idiopathic Ventricular Tachycardia
Qianqian Li, Yuanyuan Zhao, Gang Wu, Shanshan Chen, Yingchao Zhou, Sisi Li, Mengchen Zhou, Qian Fan, Jielin Pu, Kui Hong, Xiang Cheng, Qing Kenneth Wang, Xin Tu
J Am Heart Assoc. 2017 Aug; 6(8): e006130. Published online 2017 Aug 3. doi: 10.1161/JAHA.117.006130
PMCID:
PMC5586455
AbstractArticlePDF–1.3M
12.
Small copy-number variations involving genes of the FGF pathway in differences in sex development
Andrew Hagan, Ina E Amarillo
Hum Genome Var. 2017; 4: 17011. Published online 2017 Apr 13. doi: 10.1038/hgv.2017.11
PMCID:
PMC5390097
AbstractArticlePDF–617K
13.
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways
Erin M. Hagen, Robert J. Sicko, Denise M. Kay, Shannon L. Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H. Doleman, Ruzong Fan, Paul A. Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Gary M. Shaw, Laura L. Jelliffe-Pawlowski, James L. Mills
Hum Genet. Author manuscript; available in PMC 2017 Dec 1.
Published in final edited form as: Hum Genet. 2016 Dec; 135(12): 1355–1364. Published online 2016 Sep 15. doi: 10.1007/s00439-016-1727-x
PMCID:
PMC5065782
AbstractArticlePDF–357K
14.
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
Aleksandra Siekierska, Mala Isrie, Yue Liu, Chloë Scheldeman, Niels Vanthillo, Lieven Lagae, Peter A.M. de Witte, Hilde Van Esch, Mitchell Goldfarb, Gunnar M. Buyse
Neurology. 2016 Jun 7; 86(23): 2162–2170. doi: 10.1212/WNL.0000000000002752
PMCID:
PMC4898311
AbstractArticlePDF–862K
15.
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
Hassan Musa, Crystal F. Kline, Amy C. Sturm, Nathaniel Murphy, Sara Adelman, Chaojian Wang, Haidun Yan, Benjamin L. Johnson, Thomas A. Csepe, Ahmet Kilic, Robert S. D. Higgins, Paul M. L. Janssen, Vadim V. Fedorov, Raul Weiss, Christina Salazar, Thomas J. Hund, Geoffrey S. Pitt, Peter J. Mohler
Proc Natl Acad Sci U S A. 2015 Oct 6; 112(40): 12528–12533. Published online 2015 Sep 21. doi: 10.1073/pnas.1516430112
PMCID:
PMC4603502
AbstractArticlePDF–1.4M
16.
Phospho-tyrosine dependent protein–protein interaction network
Arndt Grossmann, Nouhad Benlasfer, Petra Birth, Anna Hegele, Franziska Wachsmuth, Luise Apelt, Ulrich Stelzl
Mol Syst Biol. 2015 Mar; 11(3): 0794. Published online 2015 Mar 26. doi: 10.15252/msb.20145968
PMCID:
PMC4380928
AbstractArticlePDF–1.9M
17.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
18.
FGF Homologous Factors and the Islet Brain-2 Scaffold Protein Regulate Activation of a Stress-Activated Protein Kinase
Jon Schoorlemmer, Mitchell Goldfarb
J Biol Chem. Author manuscript; available in PMC 2014 Dec 15.
Published in final edited form as: J Biol Chem. 2002 Dec 20; 277(51): 49111–49119. Published online 2002 Sep 18. doi: 10.1074/jbc.M205520200
PMCID:
PMC4266389
AbstractArticlePDF–1.1M
19.
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto-van Silfhout, Paolo Bosco, Kathryn L. Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke H. Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David Amaral, Natasha Brown, Paul J. Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O'Roak, Marco Fichera, Jayne Y. Hehir-Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B.A. de Vries, Corrado Romano, Evan E. Eichler
Nat Genet. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: Nat Genet. 2014 Oct; 46(10): 1063–1071. Published online 2014 Sep 14. doi: 10.1038/ng.3092
PMCID:
PMC4177294
AbstractArticlePDF–806K
20.
A Genome-Wide Association Study of Sleep Habits and Insomnia
Enda M Byrne, Philip R Gehrman, Sarah E Medland, Dale R Nyholt, Andrew C Heath, Pamela AF Madden, The Chronogen Consortium, Ian B Hickie, Cornelia M Van Duijn, Anjali K Henders, Grant W Montgomery, Nicholas G Martin, Naomi R Wray
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2014 Jul 7.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2013 Jul; 0(5): 439–451. Published online 2013 May 31. doi: 10.1002/ajmg.b.32168
PMCID:
PMC4083458
AbstractArticlePDF–123K

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