2 research outputs found
Additional file 1 of Genome sequencing as a generic diagnostic strategy for rare disease
- Author
- Adam Pullen (17967433)
- Aimee D. C. Paulussen (17967427)
- Alejandra Gutierrez (4856875)
- Alexander Stegmann (17967424)
- Amber den Ouden (17967406)
- Arthur van den Wijngaard (18476)
- Christian Gilissen (176174)
- Debby Hellebrekers (17967421)
- Dorien Lugtenberg (3546704)
- Erik-Jan Kamsteeg (12888104)
- Ermanno Bosgoed (17967412)
- Gaby Schobers (12888080)
- Han G. Brunner (12409573)
- Helger G. Yntema (12888086)
- Hilde Swinkels (17967409)
- Jeroen van Reeuwijk (47588)
- John Peden (258578)
- Jordi Corominas Galbany (15406456)
- Lisenka E. L. M. Vissers (10669956)
- Marcel Nelen (6846389)
- Marinus J. Blok (14900180)
- Marjan Weiss (6921266)
- Marjolijn J. L. Ligtenberg (8687649)
- Nicole de Leeuw (703270)
- Richelle A. C. M. Olde Keizer (17967418)
- Ronny Derks (2271556)
- Su Ming Sun (17967415)
- Tom Hofste (12888092)
- Tom Payne (17967436)
- Xiangqun Zheng Bradley (17967430)
- Publication venue
- Publication date
- 14/02/2024
- Field of study
Additional file 1: Table S1. Online excel file providing overview of 1,000 individuals and workflows used. Table S2. Online excel file providing 1,271 genetic variants in 1,000 individuals. Table S4. Online excel file providing coverage statistics for 58,393 variants for which previously (likely) pathogenic variants were described. Table S5. Online excel file providing coverage statistics for 4,266 disease-associated genes
Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
- Author
- Adriana Della Valle (13894355)
- Aine Stakelum (13894379)
- Andrew Latchford (13894412)
- Ann-Sofie Backman (9357988)
- Anna Lepisto (13894406)
- Anne-Marie Gerdes (395264)
- Annika Lindblom (26099)
- Attila Zaránd (13894403)
- Aung Ko Win (13894451)
- Aysel Ahadova (9668819)
- AĂda FalcĂłn de Vargas (13894409)
- Benedito Mauro Rossi (12247061)
- Bernardo Bonanni (196561)
- Carlos Alberto Vaccaro (13894373)
- Carmen Guillén-Ponce (12760014)
- Carmen Portenkirchner (13894391)
- Carrie Snyder (13894415)
- Charlotte K. Lautrup (9867833)
- Christina Therkildsen (444688)
- Christoph Engel (218744)
- Claudia Martin (2482666)
- Claudia Perne (8886344)
- Dafydd Gareth Evans (13894352)
- Daniel D. Buchanan (9101491)
- David Amor (4877491)
- Deepak Vangala (11148407)
- Des Winter (13894382)
- Dirce Maria Carraro (6830156)
- Douglas Tjandra (13894463)
- Edenir Palmero (3547826)
- Eivind Hovig (10027)
- Elena Stoffel (3467411)
- Elez Vainer (13894370)
- Elizabeth Half (13894358)
- Elke Holinski-Feder (9479)
- Emma J. Crosbie (4874944)
- Finlay Macrae (245640)
- Fiona Lalloo (196644)
- Floor Duijkers (13894418)
- Florencia Neffa (13894466)
- Francisco Lopez-Koestner (13894361)
- Gabriel Capella (4504528)
- Gabriela Moslein (13894481)
- Giovana Tardin Torrezan (9075146)
- Giulia Martina Cavestro (7572743)
- Grant Lee (6109382)
- Guy Rosner (8204241)
- Harsh Sheth (4843305)
- Heather Hampel (164499)
- Heinric Williams (4777389)
- Henrik Okkels (9413594)
- Huw Thomas (431643)
- Ido Laish (7483331)
- Inge Bernstein (444690)
- Ingrid Winship (163024)
- Ivana Nascimento (13894394)
- James G. Dowty (11600794)
- Jan Lubiński (4020542)
- Jane Figueiredo (3443222)
- Jeanette Reece (173001)
- Joan Brunet (75020)
- Joanne Ngeow (715884)
- John Burn (250532)
- John L. Hopper (8115797)
- John-Paul Plazzer (4504516)
- Jose G. Guillem (13894421)
- Jukka-Pekka Mecklin (27351)
- Julian R. Sampson (13894484)
- Julie Arnold (245602)
- JĂĽrgen Weitz (57756)
- Karin Alvarez-Valenzuela (13894364)
- Karin Wadt (447687)
- Karl Heinimann (215935)
- Karoline Horisberger (745321)
- Kate Green (4504534)
- Katie Newton (13894460)
- Kevin Monahan (13894424)
- Kirsi Pylvänäinen (4504522)
- Lars Joachim Lindberg (8750307)
- Laura Renkonen-Sinisalo (473509)
- Leandro Apolinário da Silva (13894400)
- Leigha Senter (395286)
- Lene J. Rasmussen (3385421)
- Leonardo S. Lino-Silva (13894388)
- Lior Katz (13894367)
- Liselotte P. van Hest (13894427)
- Lone Sunde (547072)
- LoĂŻc Le Marchand (3578318)
- Lucio Bertario (255294)
- Luigi Laghi (17644)
- Luigi Ricciardiello (6446183)
- Maartje Nielsen (33555)
- Mabel Bohorquez (13894385)
- Magnus von Knebel Doeberitz (206637)
- Maija R. J. Kohonen-Corish (13894430)
- Marc Greenblatt (8209287)
- Maria Grazia Tibiletti (7055009)
- Marjolijn J. L. Ligtenberg (8687649)
- Mark A. Jenkins (9292697)
- Markus Loeffler (52391)
- Marta Pineda (405950)
- Matthias Kloor (218741)
- Melissa Southey (81752)
- Melyssa Aronson (5618597)
- Mev Dominguez-Valentin (444687)
- Michael J. Hall (282668)
- Miriam Mints (4504537)
- Mohd N. Zahary (13894433)
- N. Jewel Samadder (13184154)
- Naim Abu-Freha (13894376)
- Nathan Gluck (5961287)
- Nicola Poplawski (8459865)
- Nicoline Hoogerbrugge (81756)
- Nils Rahner (218723)
- Noralane Lindor (154074)
- Norma Teresa Rossi (13894397)
- Nuria Dueñas (13894457)
- Ole Thorlacius-Ussing (3398381)
- Pablo Kalfayan (13894475)
- Patricia Esperon (13894469)
- Patrick J. Morrison (13894436)
- Paul James (435612)
- Pilar Garre (457403)
- Polly A. Newcomb (9335463)
- Päivi Peltomäki (468112)
- Pål Møller (4504531)
- Rakefet Chen-Shtoyerman (13894439)
- Ravindran Ankathil (3842905)
- Reinhard BĂĽttner (86398)
- Revital Kariv (3602426)
- Rish Pai (13894442)
- Robert HĂĽneburg (4026005)
- Robyn Ward (59541)
- Rodney J. Scott (7500305)
- Rolf Sijmons (3642145)
- Rory Kennelly (3481316)
- Sanne W. ten Broeke (13894454)
- Saskia Haupt (10819045)
- Sigve Nakken (4504519)
- Silke Redler (13894448)
- Stefan Aretz (4632109)
- Stephen N. Thibodeau (9335481)
- Steven Gallinger (108153)
- Susan Parry (163034)
- Tadeusz Dębniak (236833)
- Tatsuro Yamaguchi (3572453)
- Thiago Bassaneze (13894478)
- Thomas John (436356)
- Thomas van Overeem Hansen (4759692)
- Toni Seppälä (4504504)
- Trinidad Caldés (196674)
- Verena Steinke-Lange (8886347)
- VerĂłnica Barca-Tierno (13894445)
- Vincent Heuveline (1535971)
- Walter Hernán Pavicic (13894472)
- Wolff Schmiegel (83830)
- Zohar Levi (9414814)
- Publication venue
- Publication date
- 01/10/2022
- Field of study
Additional file 1