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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
Kvarnung, Malin ; Shahsavani, Mansoureh ; Taylan, Fulya ; Moslem, Mohsen ; Breeuwsma, Nicole ; Laan, Loora ; Schuster, Jens ; Jin, Zhe ^LU ; Nilsson, Daniel ^LU and Lieden, Agne , et al. (2019) In Frontiers in Genetics 10.
- Contribution to journal › Article
2018
Mark Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden
Levine, Hagai ; Mohri, Hideo ; Ekbom, Anders ; Ramos, Liliana ; Parker, Geoff ; Roldan, Eduardo ; Jovine, Luca ; Koelle, Sabine ; Lindstrand, Anna and Immler, Simone , et al. (2018) In Basic and Clinical Andrology 28(1).
- Contribution to journal › Debate/Note/Editorial
2015
Mark WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Markljung, Ellen ; Cao, Jia ; Nilsson, Daniel ; Ludwig, Michael ; Draaken, Markus ; Holmdahl, Gundela ; Barker, Gillian and Reutter, Heiko , et al. (2015) In Human Molecular Genetics 24(18). p.5069-5078
- Contribution to journal › Article

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