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- 2025
-
Mark
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare
Kämpe, Anders ; Gudmundsson, Sanna ; Walsh, Colum P ; Lindblad-Toh, Kerstin LU ; Johansson, Åsa ; Clareborn, Anna ; Ameur, Adam ; Edsjö, Anders LU
; Fioretos, Thoas
LU
and Ehrencrona, Hans
LU
, et al.
(2025)
In Nature Medicine
- Contribution to journal › Letter
- 2024
-
Mark
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- Contribution to journal › Article
- 2023
-
Mark
Building a precision medicine infrastructure at a national level: The Swedish experience
Edsjö, Anders LU
; Lindstrand, Anna
; Gisselsson Nord, David
LU
; Orvelid-Mölling, Paula
; Friedman, Mikaela
; Cavelier, Lucia
; Johansson, Maria
LU
; Ehrencrona, Hans
LU
; Fagerqvist, Therese
and Strid, Tobias
, et al.
(2023)
In Cambridge Prisms: Precision Medicine
1.
- Contribution to journal › Scientific review
- 2022
-
Mark
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt, Jesper ; Schuy, Jakob ; Stattin, Eva-Lena ; Kvarnung, Malin ; Falk, Anna LU
; Feuk, Lars
and Lindstrand, Anna
(2022)
In International Journal of Molecular Sciences
23(16).
- Contribution to journal › Article
-
Mark
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Eisfeldt, Jesper ; Rezayee, Fatemah ; Pettersson, Maria LU ; Lagerstedt, Kristina ; Malmgren, Helena ; Falk, Anna LU
; Grigelioniene, Giedre
and Lindstrand, Anna
(2022)
In Human Mutation
43(11).
p.1567-1575
- Contribution to journal › Article
-
Mark
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Schuy, Jakob ; Eisfeldt, Jesper ; Pettersson, Maria ; Shahrokhshahi, Niloofar ; Moslem, Mohsen ; Nilsson, Daniel ; Dahl, Niklas ; Shahsavani, Mansoureh ; Falk, Anna LU
and Lindstrand, Anna
(2022)
In Frontiers in Genetics
12.
- Contribution to journal › Article
-
Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
Fioretos, Thoas LU ; Wirta, Valtteri ; Cavelier, Lucia ; Berglund, Eva ; Friedman, Mikaela ; Akhras, Michael ; Botling, Johan ; Ehrencrona, Hans LU
; Engstrand, Lars
and Helenius, Gisela
, et al.
(2022)
In Nature Medicine
28(10).
p.1980-1982
- Contribution to journal › Letter
- 2021
-
Mark
Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
Johansson Soller, Maria ; Nordgren, Ann ; Ehrencrona, Hans LU
; Lovmar, Lovisa
; Wedell, Anna
and Lindstrand, Anna
(2021)
In Lakartidningen
118(19-20).
p.1-6
- Contribution to specialist publication or newspaper › Specialist publication article
- 2019
-
Mark
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Cao, Jia ; Nilsson, Daniel ; Holmdahl, Gundela ; Barker, Gillian ; Anderberg, Magnus LU
and Vukojević, Vladana
, et al.
(2019)
In Molecular Genetics and Genomic Medicine
7(6).
- Contribution to journal › Article
-
Mark
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
- Contribution to journal › Article