|
🐬
|
MultiQC: summarize analysis results for multiple tools and samples in a single report
Philip A. Ewels,
Måns Magnusson,
Sverker Lundin,
M. Käller
|
12 |
2016 |
12
🐬
|
|
🐜
|
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
198 auth.
C. Brownstein,
A. Beggs,
Nils Homer,
Barry Merriman,
Timothy W. Yu,
Katherine C Flannery,
E. Dechene,
Meghan C Towne,
Sarah K. Savage,
Emily N Price,
Ingrid A. Holm,
Lovelace J. Luquette,
Elaine Lyon,
Joseph Majzoub,
Peter Neupert,
...
David McCallie Jr,
Peter Szolovits,
Huntington F. Willard,
N. Mendelsohn,
R. Temme,
Richard S Finkel,
S. Yum,
L. Medne,
S. Sunyaev,
Ivan Adzhubey,
C. Cassa,
P. D. de Bakker,
Hatice Duzkale,
Piotr Dworzynski,
William G. Fairbrother,
L. Francioli,
Birgit H Funke,
Monica A. Giovanni,
R. Handsaker,
Kasper Lage,
Matthew S. Lebo,
M. Lek,
I. Leshchiner,
D. MacArthur,
Heather M. McLaughlin,
Michael F. Murray,
T. Pers,
P. Polak,
Soumya Raychaudhuri,
H. L. Rehm,
Rachel Soemedi,
N. Stitziel,
Sara Vestecka,
Jochen Supper,
Claudia Gugenmus,
B. Klocke,
Alexander Hahn,
M. Schubach,
Mortiz Menzel,
Saskia Biskup,
P. Freisinger,
M. Deng,
Martin Braun,
Sven Perner,
R. Smith,
Janeen L Andorf,
Jian Huang,
Kelli Ryckman,
V. Sheffield,
E. Stone,
Thomas Bair,
E. Black-Ziegelbein,
Terry A Braun,
B. Darbro,
Adam P. DeLuca,
D. Kolbe,
T. Scheetz,
A. Shearer,
Rama Sompallae,
Kai Wang,
A. Bassuk,
Erik Edens,
K. Mathews,
Steven A Moore,
O. Shchelochkov,
Pamela Trapane,
A. Bossler,
Colleen A. Campbell,
J. Heusel,
A. Kwitek,
Tara Maga,
Karin Panzer,
T. Wassink,
Douglas Van Daele,
H. Azaiez,
K. Booth,
Nic Meyer,
Michael M. Segal,
Marc S. Williams,
Gerard Tromp,
Peter S. White,
Donald Corsmeier,
Sara Fitzgerald-Butt,
Gail Herman,
Devon Lamb-Thrush,
Kim L McBride,
D. Newsom,
Christopher R. Pierson,
Alexander T Rakowsky,
A. Maver,
L. Lovrečić,
A. Palandačič,
B. Peterlin,
Ali Torkamani,
Anna Wedell,
Mikael Huss,
A. Alexeyenko,
Jessica M Lindvall,
Måns Magnusson,
Daniel Nilsson,
H. Stranneheim,
F. Taylan,
C. Gilissen,
A. Hoischen,
B. V. van Bon,
H. Yntema,
M. Nelen,
Weidong Zhang,
Jason Sager,
Lu Zhang,
Kathryn Blair,
Deniz Kural,
M. Cariaso,
Greg G Lennon,
Asif Javed,
Saloni Agrawal,
Pauline C Ng,
Komal S Sandhu,
Shuba Krishna,
V. Veeramachaneni,
O. Isakov,
Eran Halperin,
Eitan Friedman,
N. Shomron,
G. Glusman,
J. Roach,
Juan Caballero,
Hannah C Cox,
Denise E. Mauldin,
S. Ament,
L. Rowen,
Daniel R Richards,
F. A. S. Lucas,
M. Gonzalez-Garay,
C. T. Caskey,
Yu Bai,
Ying Huang,
Fang Fang,
Yan Zhang,
Zhengyuan Wang,
Jorge Barrera,
J. M. García-Lobo,
Domingo González-Lamuño,
Javier Llorca,
Maria C Rodriguez,
Ignacio Varela,
Martin G Reese,
Francisco M. De La Vega,
Edward S. Kiruluta,
Michele Cargill,
Reece K. Hart,
Jon M Sorenson,
G. Lyon,
David A Stevenson,
Bruce E Bray,
Barry Moore,
K. Eilbeck,
M. Yandell,
Hongyu Zhao,
Lin Hou,
Xiaowei Chen,
Xiting Yan,
Mengjie Chen,
Cong Li,
Can Yang,
Murat Gunel,
Peining Li,
Yong Kong,
Austin C Alexander,
Z. Albertyn,
K. Boycott,
Dennis E. Bulman,
Paul MK Gordon,
A. Innes,
B. Knoppers,
Jacek Majewski,
Christian R. Marshall,
J. Parboosingh,
Sarah L. Sawyer,
M. E. Samuels,
J. Schwartzentruber,
I. Kohane,
D. Margulies
|
8 |
2014 |
8
🐜
|
|
🐜
|
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
52 auth.
H. Stranneheim,
Kristina Lagerstedt-Robinson,
Måns Magnusson,
M. Kvarnung,
D. Nilsson,
Nicole Lesko,
M. Engvall,
B. Anderlid,
H. Arnell,
C. Johansson,
M. Barbaro,
E. Björck,
Helene Bruhn,
Jesper Eisfeldt,
Christoph Freyer,
...
G. Grigelioniene,
P. Gustavsson,
A. Hammarsjö,
M. Hellström-Pigg,
E. Iwarsson,
Anders Jemt,
Mikael Laaksonen,
S. L. Enoksson,
H. Malmgren,
Karin Naess,
M. Nordenskjöld,
M. Oscarson,
M. Pettersson,
C. Rasi,
A. Rosenbaum,
E. Sahlin,
Eliane Sardh,
T. Stödberg,
B. Tesi,
E. Tham,
H. Thonberg,
V. Töhönen,
U. von Döbeln,
Daphne Vassiliou,
S. Vonlanthen,
A. Wikström,
Josephine Wincent,
O. Winqvist,
A. Wredenberg,
Sofia Ygberg,
R. Zetterström,
P. Marits,
M. Soller,
A. Nordgren,
V. Wirta,
A. Lindstrand,
A. Wedell
|
7 |
2021 |
7
🐜
|
|
🐜
|
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
30 auth.
A. Lindstrand,
Jesper Eisfeldt,
M. Pettersson,
C. Carvalho,
M. Kvarnung,
G. Grigelioniene,
B. Anderlid,
Olof Bjerin,
P. Gustavsson,
A. Hammarsjö,
P. Georgii‐Hemming,
E. Iwarsson,
Maria Johansson-Soller,
Kristina Lagerstedt-Robinson,
A. Liedén,
...
Måns Magnusson,
Marcel Martin,
H. Malmgren,
M. Nordenskjöld,
A. Norling,
E. Sahlin,
H. Stranneheim,
E. Tham,
Josephine Wincent,
Sofia Ygberg,
A. Wedell,
V. Wirta,
A. Nordgren,
J. Lundin,
D. Nilsson
|
6 |
2019 |
6
🐜
|
|
🐜
|
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
18 auth.
Christoph Freyer,
H. Stranneheim,
Karin Naess,
Arnaud Mourier,
Andrea Felser,
Camilla Maffezzini,
Nicole Lesko,
Helene Bruhn,
M. Engvall,
R. Wibom,
...
M. Barbaro,
Y. Hinze,
Måns Magnusson,
Robin Andeer,
R. Zetterström,
U. von Döbeln,
A. Wredenberg,
A. Wedell
|
6 |
2015 |
6
🐜
|
|
🐜
|
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
18 auth.
H. Stranneheim,
M. Engvall,
Karin Naess,
Nicole Lesko,
Pontus Larsson,
Mats Dahlberg,
Robin Andeer,
A. Wredenberg,
Christoph Freyer,
M. Barbaro,
...
Helene Bruhn,
Tesfail Emahazion,
Måns Magnusson,
R. Wibom,
R. Zetterström,
V. Wirta,
U. von Döbeln,
A. Wedell
|
6 |
2014 |
6
🐜
|
|
🐜
|
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
33 auth.
A. Hammarsjö,
M. Pettersson,
D. Chitayat,
A. Handa,
B. Anderlid,
M. Bartocci,
Donald G Basel,
Dominyka Batkovskyte,
A. Beleza‐Meireles,
P. Conner,
Jesper Eisfeldt,
K. Girisha,
B. Chung,
E. Horemuzova,
H. Hyodo,
...
L. Korņejeva,
Kristina Lagerstedt-Robinson,
A. Lin,
Måns Magnusson,
Shahida Moosa,
Shalini S Nayak,
D. Nilsson,
H. Ohashi,
N. Ohashi-Fukuda,
H. Stranneheim,
F. Taylan,
Rasa Traberg,
Ulrika Voss,
V. Wirta,
A. Nordgren,
G. Nishimura,
A. Lindstrand,
G. Grigelioniene
|
4 |
2021 |
4
🐜
|
|
🐜
|
Prevailing effectiveness of the 2009 influenza A(H1N1)pdm09 vaccine during the 2010/11 season in Sweden.
14 auth.
K. Widgren,
Måns Magnusson,
P. Hagstam,
M. Widerström,
Å. Örtqvist,
Im Einemo,
P. Follin,
A. Lindblom,
S. Mäkitalo,
O. Wik,
...
A. Österlund,
Maria Grünewald,
I. Uhnoo,
A. Linde
|
4 |
2013 |
4
🐜
|
|
🐜
|
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia
7 auth.
T. Stödberg,
Måns Magnusson,
Nicole Lesko,
A. Wredenberg,
Daniel Martín Muñoz,
H. Stranneheim,
...
A. Wedell
|
4 |
2020 |
4
🐜
|
|
🦁
|
Loqusdb: added value of an observations database of local genomic variation
8 auth.
Måns Magnusson,
Jesper Eisfeldt,
D. Nilsson,
A. Rosenbaum,
V. Wirta,
A. Lindstrand,
...
A. Wedell,
H. Stranneheim
|
2 |
2020 |
2
🦁
|
|
🐜
|
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network
9 auth.
C. Rasi,
D. Nilsson,
Måns Magnusson,
Nicole Lesko,
Kristina Lagerstedt-Robinson,
A. Wedell,
...
A. Lindstrand,
V. Wirta,
H. Stranneheim
|
2 |
2021 |
2
🐜
|
|
🐜
|
Scientificomputing/Montage V1.4
30 auth.
Philip A. Ewels,
M. Ankenbrand,
R. Hammarén,
V. Saveliev,
T. Booth,
T. Neumann,
Måns Magnusson,
Alexanderscholz,
Robin Andeer,
Guillermo Carrasco,
Winni Kretzschmar,
Francesco,
L. Pantano,
M. D. Smet,
Remi-André Olsen,
...
D. Ryan,
Brad A. Chapman,
Fredrik Boulund,
J. Gehring,
Joachim Wolff,
Chrisbarnettster,
H. Wiencko,
Murray Wham,
M. Garcia,
Dennis Schwartz,
D. Desvillechabrol,
Noirot Céline,
E. Pruesse,
R. Guimera,
Albert J. Vilella
|
0 |
2017 |
0
🐜
|
