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Select item 104160891.

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

Abstract Article PDF–1.4M

Select item 96777032.

FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

Martyna Sochacka, Radoslaw Karelus, Lukasz Opalinski, Daniel Krowarsch, Martyna Biadun, Jacek Otlewski, Malgorzata Zakrzewska

Cell Commun Signal. 2022; 20: 182. Published online 2022 Nov 21. doi: 10.1186/s12964-022-01000-4

PMCID:: PMC9677703

Abstract Article PDF–7.1M

Select item 94295453.

Modulating effects of FGF12 variants on Na_V1.2 and Na_V1.6 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

Abstract Article PDF–2.6M

Select item 84839754.

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

Abstract Article PDF–1.1M

Select item 81683795.

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

Abstract Article PDF–908K

Select item 81650306.

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

Abstract Article PDF–2.2M

Select item 80590627.

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

Abstract Article PDF–5.3M

Select item 72785528.

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

Abstract Article PDF–726K

Select item 71934049.

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

Abstract Article PDF–1.5M

Select item 716998310.

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

Abstract Article PDF–5.4M

Select item 590170111.

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

Abstract Article PDF–899K

Select item 558645512.

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

Abstract Article PDF–1.3M

Select item 539009713.

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

Abstract Article PDF–617K

Select item 506578214.

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

Abstract Article PDF–357K

Select item 489831115.

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

Abstract Article PDF–862K

Select item 460350216.

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

Abstract Article PDF–1.4M

Select item 438092817.

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

Abstract Article PDF–1.9M

Select item 426658818.

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

Abstract Article PDF–3.1M

Select item 426638919.

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

Abstract Article PDF–1.1M

Select item 417729420.

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