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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
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7 |
2021 |
7
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Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
7 auth.
K. Lindahl,
E. Åström,
C. Rubin,
G. Grigelioniene,
B. Malmgren,
Ö. Ljunggren,
...
A. Kindmark
|
7 |
2015 |
7
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|
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Demonstration of estrogen receptor-beta immunoreactivity in human growth plate cartilage.
7 auth.
L. Ola Nilsson,
Anders Boman,
L. Sävendahl,
G. Grigelioniene,
Claes Ohlsson,
E. Ritzén,
...
Joanna Wroblewski
|
7 |
1999 |
7
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|
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FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
24 auth.
S. Unger,
M. Górna,
A. Le Béchec,
Sónia do Vale-Pereira,
M. Bedeschi,
S. Geiberger,
G. Grigelioniene,
E. Horemuzova,
F. Lalatta,
E. Lausch,
...
C. Magnani,
S. Nampoothiri,
G. Nishimura,
D. Petrella,
Francisca Rojas-Ringeling,
Akari N Utsunomiya,
B. Zabel,
S. Pradervand,
K. Harshman,
Belinda Campos-Xavier,
L. Bonafė,
G. Superti-Furga,
Brian J. Stevenson,
A. Superti-Furga
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6 |
2013 |
6
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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
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|
|
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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
24 auth.
P. Heinz-Erian,
T. Müller,
Birgit Krabichler,
M. Schranz,
C. Becker,
F. Rüschendorf,
P. Nürnberg,
B. Rossier,
M. Vujić,
I. Booth,
...
C. Holmberg,
C. Wijmenga,
G. Grigelioniene,
C. Kneepkens,
Š. Rosipal,
M. Mistrik,
M. Kappler,
L. Michaud,
L. Dóczy,
V. Siu,
M. Krantz,
H. Zoller,
G. Utermann,
A. Janecke
|
6 |
2009 |
6
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|
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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
30 auth.
R. Acuna-Hidalgo,
D. Schanze,
A. Kariminejad,
A. Nordgren,
M. Kariminejad,
P. Conner,
G. Grigelioniene,
D. Nilsson,
M. Nordenskjöld,
A. Wedell,
Christoph Freyer,
A. Wredenberg,
D. Wieczorek,
G. Gillessen‐Kaesbach,
H. Kayserili,
...
N. Elcioglu,
S. Ghaderi-sohi,
P. Goodarzi,
H. Setayesh,
M. van de Vorst,
M. Steehouwer,
R. Pfundt,
Birgit Krabichler,
C. Curry,
Malcolm G MacKenzie,
K. Boycott,
C. Gilissen,
A. Janecke,
A. Hoischen,
M. Zenker
|
6 |
2014 |
6
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|
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
24 auth.
C. Ockeloen,
M. Willemsen,
S. D. de Munnik,
B. V. van Bon,
N. de Leeuw,
A. Verrips,
S. Kant,
E. Jones,
H. Brunner,
R. L. van Loon,
...
E. Smeets,
M. V. van Haelst,
G. van Haaften,
A. Nordgren,
H. Malmgren,
G. Grigelioniene,
S. Vermeer,
P. Louro,
L. Ramos,
T. Maal,
Celeste C van Heumen,
H. Yntema,
C. Carels,
T. Kleefstra
|
6 |
2014 |
6
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|
|
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Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study
7 auth.
K. Andersson,
G. Dahllöf,
K. Lindahl,
A. Kindmark,
G. Grigelioniene,
E. Åström,
...
B. Malmgren
|
6 |
2017 |
6
🐜
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|
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Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
9 auth.
Caisa M. Hansson,
P. Buckley,
G. Grigelioniene,
A. Piotrowski,
A. R. Hellström,
K. Mantripragada,
...
Caroline Jarbo,
T. Mathiesen,
J. Dumanski
|
6 |
2007 |
6
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