11
TITLE: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases  Full Text
AUTHORS: Birte Zurek; Kornelia Ellwanger; Lisenka E. L. M. Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M. de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A. C. ’t Hoen; Antonio Vitobello; Julia M. Schulze Hentrich; Olaf Riess; Han G. Brunner; Anthony J. Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Holm Graessner; Tobias B. Haack; Birte Zurek; Kornelia Ellwanger; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros Facer; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot Noel; Anna Heinzmann; Giulia Coarelli; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira ; Fátima Carneiro ; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Hanns Lochmüller; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski Feder; Andreas Laner; Verena Steinke Lange; Evelin Schröck; Andreas Rump; ...More
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 29, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 52 Unpaywall
12
TITLE: Solving unsolved rare neurological diseases-a Solve-RD viewpoint  Full Text
AUTHORS: Rebecca Schüle; Dagmar Timmann; Corrie E. Erasmus; Jennifer Reichbauer; Melanie Wayand; Jonathan Baets; Peter Balicza; Patrick Chinnery; Alexandra Dürr; Tobias Haack; Holger Hengel; Rita Horvath; Henry Houlden; Erik-Jan Kamsteeg; Christoph Kamsteeg; Katja Lohmann; Alfons Macaya; Anna Marcé Grau; Ales Maver; Judit Molnar; Alexander Münchau; Borut Peterlin; Olaf Riess; Ludger Schöls; Rebecca Schüle; Giovanni Stevanin; Matthis Synofzik; Vincent Timmerman; Bart van de Warrenburg; Nienke van Os; Jana Vandrovcova; Melanie Wayand; Carlo Wilke; Bart van de Warrenburg; Ludger Schöls; Carlo Wilke; Andrea Bevot; Stephan Zuchner; Sergi Beltran; Steven Laurie; Leslie Matalonga; Holm Graessner; Matthis Synofzik; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze Hentrich; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A. C. ’t Hoen; Lisenka E. L. M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira ; Fátima Carneiro ; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Hanns Lochmüller; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski Feder; Andreas Laner; Verena Steinke Lange; Evelin Schröck; Andreas Rump; ...More
PUBLISHED: 2021, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 29, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 3 Unpaywall
13
TITLE: A Quantitative Proteome Map of the Human Body
AUTHORS: Lihua Jiang; Meng Wang; Shin Lin; Ruiqi Jian; Xiao Li; Joanne Chan; Guanlan Dong; Huaying Fang; Aaron E Robinson; Michael P Snyder; François Aguet; Shankara Anand; Kristin G Ardlie; Stacey Gabriel; Gad Getz; Aaron Graubert; Kane Hadley; Robert E Handsaker; Katherine H Huang; Seva Kashin; Daniel G MacArthur; Samuel R Meier; Jared L Nedzel; Duyen Y Nguyen; Ayellet V Segrè; Ellen Todres; Brunilda Balliu; Alvaro N Barbeira; Alexis Battle; Rodrigo Bonazzola; Andrew Brown; Christopher D Brown; Stephane E Castel; Don Conrad; Daniel J Cotter; Nancy Cox; Sayantan Das; Olivia M de Goede; Emmanouil T Dermitzakis; Barbara E Engelhardt; Eleazar Eskin; Tiffany Y Eulalio; Nicole M Ferraro; Elise Flynn; Laure Fresard; Eric R Gamazon; Diego Garrido-Martín; Nicole R Gay; Roderic Guigó; Andrew R Hamel; Yuan He; Paul J Hoffman; Farhad Hormozdiari; Lei Hou; Hae Kyung Im; Brian Jo; Silva Kasela; Manolis Kellis; Sarah Kim-Hellmuth; Alan Kwong; Tuuli Lappalainen; Xin Li; Yanyu Liang; Serghei Mangul; Pejman Mohammadi; Stephen B Montgomery; Manuel Muñoz-Aguirre; Daniel C Nachun; Andrew B Nobel; Meritxell Oliva; YoSon Park; Yongjin Park; Princy Parsana; Ferran Reverter; John M Rouhana; Chiara Sabatti; Ashis Saha; Andrew D Skol; Matthew Stephens; Barbara E Stranger; Benjamin J Strober; Nicole A Teran; Ana Viñuela; Gao Wang; Xiaoquan Wen; Fred Wright; Valentin Wucher; Yuxin Zou; Pedro G Ferreira ; Gen Li; Marta Melé; Esti Yeger-Lotem; Mary E Barcus; Debra Bradbury; Tanya Krubit; Jeffrey A McLean; Liqun Qi; Karna Robinson; Nancy V Roche; Anna M Smith; Leslie Sobin; David E Tabor; Anita Undale; Jason Bridge; Lori E Brigham; Barbara A Foster; Bryan M Gillard; Richard Hasz; Marcus Hunter; Christopher Johns; Mark Johnson; Ellen Karasik; Gene Kopen; William F Leinweber; Alisa McDonald; Michael T Moser; Kevin Myer; Kimberley D Ramsey; Brian Roe; Saboor Shad; Jeffrey A Thomas; Gary Walters; Michael Washington; Joseph Wheeler; Scott D Jewell; Daniel C Rohrer; Dana R Valley; David A Davis; Deborah C Mash; Philip A Branton; Laura K Barker; Heather M Gardiner; Maghboeba Mosavel; Laura A Siminoff; Paul Flicek; Maximilian Haeussler; Thomas Juettemann; James J Kent; Christopher M Lee; Conner C Powell; Kate R Rosenbloom; Magali Ruffier; Dan Sheppard; Kieron Taylor; Stephen J Trevanion; Daniel R Zerbino; Nathan S Abell; Joshua Akey; Lin Chen; Kathryn Demanelis; Jennifer A Doherty; Andrew P Feinberg; Kasper D Hansen; Peter F Hickey; Farzana Jasmine; Rajinder Kaul; Muhammad G Kibriya; Jin Billy Li; Qin Li; Sandra E Linder; Brandon L Pierce; Lindsay F Rizzardi; Kevin S Smith; John Stamatoyannopoulos; Hua Tang; Latarsha J Carithers; Ping Guan; Susan E Koester; Roger R Little; Helen M Moore; Concepcion R Nierras; Abhi K Rao; Jimmie B Vaught; Simona Volpi; ...More
PUBLISHED: 2020, SOURCE: Cell, VOLUME: 183, ISSUE: 1
INDEXED IN: Scopus CrossRef: 256
14
TITLE: A vast resource of allelic expression data spanning human tissues
AUTHORS: Stephane E Castel; François Aguet; François Aguet; François Aguet; Pejman Mohammadi; Pejman Mohammadi; Shankara Anand; Shankara Anand; Kristin G Ardlie; Kristin G Ardlie; Stacey Gabriel; Gad A Getz; Aaron Graubert; Aaron Graubert; Kane Hadley; Kane Hadley; Robert E Handsaker; Robert E Handsaker; Katherine H Huang; Seva Kashin; Seva Kashin; Xiao Li; Daniel G MacArthur; Samuel R Meier; Samuel R Meier; Jared L Nedzel; Jared L Nedzel; Duyen T Nguyen; Ayellet V Segrè; Ellen Todres; Ellen Todres; Brunilda Balliu; Alvaro N Barbeira; Alexis Battle; Rodrigo Bonazzola; Andrew Brown; Christopher D Brown; Stephane E Castel; Donald F Conrad; Daniel J Cotter; Nancy Cox; Sayantan Das; Olivia M De Goede; Emmanouil T Dermitzakis; Jonah Einson; Barbara E Engelhardt; Eleazar Eskin; Tiffany Y Eulalio; Nicole M Ferraro; Elise D Flynn; Laure Fresard; Eric R Gamazon; Diego Garrido Martín; Nicole R Gay; Michael J Gloudemans; Roderic Guigó; Andrew R Hame; Yuan He; Paul J Hoffman; Farhad Hormozdiari; Lei Hou; Katherine H Huang; Hae Kyung Im; Brian Jo; Silva Kasela; Manolis Kellis; Sarah Kim Hellmuth; Alan Kwong; Tuuli Lappalainen; Xiao Li; Xin Li; Yanyu Liang; Serghei Mangul; Stephen B Montgomery; Manuel Muñoz Aguirre; Daniel C Nachun; Duyen T Nguyen; Andrew B Nobel; Meritxell Oliva; Yo Son Park; Yongjin Park; Princy Parsana; Abhiram S Rao; Ferran Reverter; John M Rouhana; Chiara Sabatti; Ashis Saha; Ayellet V Segrè; Andrew D Skol; Matthew Stephens; Barbara E Stranger; Benjamin J Strober; Nicole A Teran; Ana Viñuela; Gao Wang; Xiaoquan Wen; Fred Wright; Valentin Wucher; Yuxin Zou; Pedro G Ferreira ; ...More
PUBLISHED: 2020, SOURCE: Genome Biology, VOLUME: 21, ISSUE: 1
INDEXED IN: Scopus
15
TITLE: Gender Differential Transcriptome in Gastric and Thyroid Cancers  Full Text
AUTHORS: Abel Sousa; Marta Ferreira; Carla Oliveira; Pedro G Ferreira ;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
INDEXED IN: Scopus WOS CrossRef: 8
17
TITLE: Predicting Gastric Cancer Molecular Subtypes from Gene Expression Data  Full Text
AUTHORS: Marta Moreno; Abel Sousa; Marta Melé; Rui Oliveira; Pedro G Ferreira ;
PUBLISHED: 2020, SOURCE: Proceedings, VOLUME: 54, ISSUE: 1
INDEXED IN: CrossRef: 1 Unpaywall
18
TITLE: The GTEx Consortium atlas of genetic regulatory effects across human tissues
AUTHORS: The GTEx Consortium; Pedro Gabriel Dias Ferreira ;
PUBLISHED: 2020, SOURCE: SCIENCE, VOLUME: 369, ISSUE: 6509
INDEXED IN: Scopus WOS CrossRef: 2603
19
TITLE: Transcriptomic signatures across human tissues identify functional rare genetic variation
AUTHORS: Aguet, F; Barbeira, AN; Bonazzola, R; Brown, A; Castel, SE; Jo, B; Kasela, S; Kim Hellmuth, S; Liang, Y; Oliva, M; Flynn, ED; Parsana, P; Fresard, L; Gamazon, ER; Hamel, AR; He, Y; Hormozdiari, F; Mohammadi, P; Muñoz Aguirre, M; Park, Y; Saha, A; Segrè, AV; Strober, BJ; Wen, X; Wucher, V; Ardlie, KG; Battle, A; Brown, CD; Cox, N; Das, S; Dermitzakis, ET; Engelhardt, BE; Garrido Martín, D; Gay, NR; Getz, GA; Guigó, R; Handsaker, RE; Hoffman, PJ; Im, HK; Kashin, S; Kwong, A; Lappalainen, T; Li, X; MacArthur, DG; Montgomery, SB; Rouhana, JM; Stephens, M; Stranger, BE; Todres, E; Viñuela, A; Wang, G; Zou, Y; Anand, S; Gabriel, S; Graubert, A; Hadley, K; Huang, KH; Meier, SR; Nedzel, JL; Nguyen, DT; Balliu, B; Conrad, DF; Cotter, DJ; deGoede, OM; Einson, J; Eskin, E; Eulalio, TY; Ferraro, NM; Gloudemans, MJ; Hou, L; Kellis, M; Li, X; Mangul, S; Nachun, DC; Nobel, AB; Park, Y; Rao, AS; Reverter, F; Sabatti, C; Skol, AD; Teran, NA; Wright, F; Ferreira, PG ; Li, G; Melé, M; Yeger Lotem, E; Barcus, ME; Bradbury, D; Krubit, T; McLean, JA; Qi, L; Robinson, K; Roche, NV; Smith, AM; Sobin, L; Tabor, DE; Undale, A; Bridge, J; Brigham, LE; Foster, BA; Gillard, BM; Hasz, R; Hunter, M; Johns, C; Johnson, M; Karasik, E; Kopen, G; Leinweber, WF; McDonald, A; Moser, MT; Myer, K; Ramsey, KD; Roe, B; Shad, S; Thomas, JA; Walters, G; Washington, M; Wheeler, J; Jewell, SD; Rohrer, DC; Valley, DR; Davis, DA; Mash, DC; Branton, PA; Barker, LK; Gardiner, HM; Mosavel, M; Siminoff, LA; Flicek, P; Haeussler, M; Juettemann, T; Kent, WJ; Lee, CM; Powell, CC; Rosenbloom, KR; Ruffier, M; Sheppard, D; Taylor, K; Trevanion, SJ; Zerbino, DR; Abell, NS; Akey, J; Chen, L; Demanelis, K; Doherty, JA; Feinberg, AP; Hansen, KD; Hickey, PF; Jasmine, F; Jiang, L; Kaul, R; Kibriya, MG; Li, JB; Li, Q; Lin, S; Linder, SE; Pierce, BL; Rizzardi, LF; Smith, KS; Snyder, M; Stamatoyannopoulos, J; Tang, H; Wang, M; Carithers, LJ; Guan, P; Koester, SE; Little, AR; Moore, HM; Nierras, CR; Rao, AK; Vaught, JB; Volpi, S; ...More
PUBLISHED: 2020, SOURCE: Science, VOLUME: 369, ISSUE: 6509
INDEXED IN: Scopus CrossRef: 86
20
TITLE: Bioinformatics algorithms: Design and implementation in python
AUTHORS: Rocha, M ; Ferreira, PG ;
PUBLISHED: 2018, SOURCE: Bioinformatics Algorithms: Design and Implementation in Python
INDEXED IN: Scopus
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