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- 2020
-
Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
- Contribution to journal › Article
-
Mark
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1
Thomsen, Hauke LU
; Chattopadhyay, Subhayan
LU
; Hoffman, Per
; Nöthen, Markus M
; Kalirai, Helen
; Coupland, Sarah E.
; Jonas, Jost B.
; Hemminki, Kari
LU
and Försti, Asta
LU
(2020)
In Melanoma Research
30(2).
p.166-172
- Contribution to journal › Article
-
Mark
Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease
- Contribution to journal › Article
-
Mark
Protein-altering germline mutations implicate novel genes related to lung cancer development
Ji, Xuemei ; Brunnström, Hans LU
; Manjer, Jonas
LU
; Melander, Olle
LU
; Overvad, Kim
and Amos, Christopher I.
(2020)
In Nature Communications
11(1).
- Contribution to journal › Article
-
Mark
Subclonal patterns in follow-up of acute myeloid leukemia combining whole exome sequencing and ultrasensitive IBSAFE digital droplet analysis
Pettersson, Louise LU
; Chen, Yilun
LU
; George, Anthony M.
LU
; Rigo, Robert
LU
; Lazarevic, Vladimir
LU
; Juliusson, Gunnar
LU
; Saal, Lao H.
LU
and Ehinger, Mats
LU
(2020)
In Leukemia and Lymphoma
61(9).
p.2168-2179
- Contribution to journal › Article
-
Mark
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
- Contribution to journal › Article
-
Mark
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
- Contribution to journal › Article
-
Mark
Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant
Kissopoulou, Antheia ; Fernlund, Eva LU
; Holmgren, Christina
; Isaksson, Eira
; Karlsson, Jan Erik
LU
; Green, Henrik
; Jonasson, Jon
; Ellegård, Rada
; Årstrand, Hanna Klang
and Svensson, Anneli
LU
, et al.
(2020)
In ESC Heart Failure
7(3).
p.1210-1216
- Contribution to journal › Article
-
Mark
New generation genetic testing entering the clinic
Gorcenco, Sorina LU
; Ilinca, Andreea
LU
; Almasoudi, Wejdan
LU
; Kafantari, Efthymia
LU
; Lindgren, Arne G.
LU
and Puschmann, Andreas
LU
(2020)
In Parkinsonism and Related Disorders
73.
p.72-84
- Contribution to journal › Article
-
Mark
An integrative phenotype–genotype approach using phenotypic characteristics from the UAE national diabetes study identifies HSD17B12 as a candidate gene for obesity and type 2 diabetes
Hachim, Mahmood Y. ; Aljaibeji, Hayat ; Hamoudi, Rifat A. ; Hachim, Ibrahim Y. ; Elemam, Noha M. ; Mohammed, Abdul Khader ; Salehi, Albert LU
; Taneera, Jalal
LU
and Sulaiman, Nabil
(2020)
In Genes
11(4).
- Contribution to journal › Article