Results
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1.
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Multi-nucleotide de novo Mutations in Humans. [electronic resource] by
- Besenbacher, Søren
- Sulem, Patrick
- Helgason, Agnar
- Helgason, Hannes
- Kristjansson, Helgi
- Jonasdottir, Aslaug
- Jonasdottir, Adalbjorg
- Magnusson, Olafur Th
- Thorsteinsdottir, Unnur
- Masson, Gisli
- Kong, Augustine
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20170428
In:
PLoS genetics vol. 12
Availability: No items available.
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2.
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A whole genome association study in Icelandic multiple sclerosis patients with 4804 markers. [electronic resource] by
- Jonasdottir, Aslaug
- Thorlacius, Theodora
- Fossdal, Ragnheidur
- Jonasdottir, Adalbjorg
- Benediktsson, Kjartan
- Benedikz, John
- Jonsson, Hjortur H
- Sainz, Jesus
- Einarsdottir, Helga
- Sigurdardottir, Sonja
- Kristjansdottir, Gudlaug
- Sawcer, Stephen
- Compston, Alastair
- Stefansson, Kari
- Gulcher, Jeffrey
Producer: 20040212
In:
Journal of neuroimmunology vol. 143
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3.
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Fine-scale recombination rate differences between sexes, populations and individuals. [electronic resource] by
- Kong, Augustine
- Thorleifsson, Gudmar
- Gudbjartsson, Daniel F
- Masson, Gisli
- Sigurdsson, Asgeir
- Jonasdottir, Aslaug
- Walters, G Bragi
- Jonasdottir, Adalbjorg
- Gylfason, Arnaldur
- Kristinsson, Kari Th
- Gudjonsson, Sigurjon A
- Frigge, Michael L
- Helgason, Agnar
- Thorsteinsdottir, Unnur
- Stefansson, Kari
Producer: 20101214
In:
Nature vol. 467
Availability: No items available.
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4.
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Graphtyper enables population-scale genotyping using pangenome graphs. [electronic resource] by
- Eggertsson, Hannes P
- Jonsson, Hakon
- Kristmundsdottir, Snaedis
- Hjartarson, Eirikur
- Kehr, Birte
- Masson, Gisli
- Zink, Florian
- Hjorleifsson, Kristjan E
- Jonasdottir, Aslaug
- Jonasdottir, Adalbjorg
- Jonsdottir, Ingileif
- Gudbjartsson, Daniel F
- Melsted, Pall
- Stefansson, Kari
- Halldorsson, Bjarni V
Producer: 20171102
In:
Nature genetics vol. 49
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5.
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The rate of meiotic gene conversion varies by sex and age. [electronic resource] by
- Halldorsson, Bjarni V
- Hardarson, Marteinn T
- Kehr, Birte
- Styrkarsdottir, Unnur
- Gylfason, Arnaldur
- Thorleifsson, Gudmar
- Zink, Florian
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sulem, Patrick
- Masson, Gisli
- Thorsteinsdottir, Unnur
- Helgason, Agnar
- Kong, Augustine
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20170908
In:
Nature genetics vol. 48
Availability: No items available.
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6.
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Author Correction: The rate of meiotic gene conversion varies by sex and age. [electronic resource] by
- Halldorsson, Bjarni V
- Hardarson, Marteinn T
- Kehr, Birte
- Styrkarsdottir, Unnur
- Gylfason, Arnaldur
- Thorleifsson, Gudmar
- Zink, Florian
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sulem, Patrick
- Masson, Gisli
- Thorsteinsdottir, Unnur
- Helgason, Agnar
- Kong, Augustine
- Gudbjartsson, Daniel F
- Stefansson, Kari
Publication details: Nature genetics 11 2018
In:
Nature genetics vol. 50
Availability: No items available.
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7.
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Identification of a large set of rare complete human knockouts. [electronic resource] by
- Sulem, Patrick
- Helgason, Hannes
- Oddson, Asmundur
- Stefansson, Hreinn
- Gudjonsson, Sigurjon A
- Zink, Florian
- Hjartarson, Eirikur
- Sigurdsson, Gunnar Th
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sigurdsson, Asgeir
- Magnusson, Olafur Th
- Kong, Augustine
- Helgason, Agnar
- Holm, Hilma
- Thorsteinsdottir, Unnur
- Masson, Gisli
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20150706
In:
Nature genetics vol. 47
Availability: No items available.
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8.
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Diversity in non-repetitive human sequences not found in the reference genome. [electronic resource] by
- Kehr, Birte
- Helgadottir, Anna
- Melsted, Pall
- Jonsson, Hakon
- Helgason, Hannes
- Jonasdottir, Adalbjörg
- Jonasdottir, Aslaug
- Sigurdsson, Asgeir
- Gylfason, Arnaldur
- Halldorsson, Gisli H
- Kristmundsdottir, Snaedis
- Thorgeirsson, Gudmundur
- Olafsson, Isleifur
- Holm, Hilma
- Thorsteinsdottir, Unnur
- Sulem, Patrick
- Helgason, Agnar
- Gudbjartsson, Daniel F
- Halldorsson, Bjarni V
- Stefansson, Kari
Producer: 20170905
In:
Nature genetics vol. 49
Availability: No items available.
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9.
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Rare mutations associating with serum creatinine and chronic kidney disease. [electronic resource] by
- Sveinbjornsson, Gardar
- Mikaelsdottir, Evgenia
- Palsson, Runolfur
- Indridason, Olafur S
- Holm, Hilma
- Jonasdottir, Aslaug
- Helgason, Agnar
- Sigurdsson, Snaevar
- Jonasdottir, Adalbjorg
- Sigurdsson, Asgeir
- Eyjolfsson, Gudmundur Ingi
- Sigurdardottir, Olof
- Magnusson, Olafur Th
- Kong, Augustine
- Masson, Gisli
- Sulem, Patrick
- Olafsson, Isleifur
- Thorsteinsdottir, Unnur
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20150713
In:
Human molecular genetics vol. 23
Availability: No items available.
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10.
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. [electronic resource] by
- Thorleifsson, Gudmar
- Magnusson, Kristinn P
- Sulem, Patrick
- Walters, G Bragi
- Gudbjartsson, Daniel F
- Stefansson, Hreinn
- Jonsson, Thorlakur
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Stefansdottir, Gerdur
- Masson, Gisli
- Hardarson, Gudmundur A
- Petursson, Hjorvar
- Arnarsson, Arsaell
- Motallebipour, Mehdi
- Wallerman, Ola
- Wadelius, Claes
- Gulcher, Jeffrey R
- Thorsteinsdottir, Unnur
- Kong, Augustine
- Jonasson, Fridbert
- Stefansson, Kari
Producer: 20070921
In:
Science (New York, N.Y.) vol. 317
Availability: No items available.
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11.
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. [electronic resource] by
- Arnadottir, Gudny A
- Jensson, Brynjar O
- Marelsson, Sigurdur E
- Sulem, Gerald
- Oddsson, Asmundur
- Kristjansson, Ragnar P
- Benonisdottir, Stefania
- Gudjonsson, Sigurjon A
- Masson, Gisli
- Thorisson, Gudmundur A
- Saemundsdottir, Jona
- Magnusson, Olafur Th
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sigurdsson, Asgeir
- Gudbjartsson, Daniel F
- Thorsteinsdottir, Unnur
- Arngrimsson, Reynir
- Sulem, Patrick
- Stefansson, Kari
Producer: 20171013
In:
BMC medical genetics vol. 18
Availability: No items available.
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12.
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Rate of de novo mutations and the importance of father's age to disease risk. [electronic resource] by
- Kong, Augustine
- Frigge, Michael L
- Masson, Gisli
- Besenbacher, Soren
- Sulem, Patrick
- Magnusson, Gisli
- Gudjonsson, Sigurjon A
- Sigurdsson, Asgeir
- Jonasdottir, Aslaug
- Jonasdottir, Adalbjorg
- Wong, Wendy S W
- Sigurdsson, Gunnar
- Walters, G Bragi
- Steinberg, Stacy
- Helgason, Hannes
- Thorleifsson, Gudmar
- Gudbjartsson, Daniel F
- Helgason, Agnar
- Magnusson, Olafur Th
- Thorsteinsdottir, Unnur
- Stefansson, Kari
Producer: 20120928
In:
Nature vol. 488
Availability: No items available.
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13.
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Loss-of-function variants in ATM confer risk of gastric cancer. [electronic resource] by
- Helgason, Hannes
- Rafnar, Thorunn
- Olafsdottir, Halla S
- Jonasson, Jon G
- Sigurdsson, Asgeir
- Stacey, Simon N
- Jonasdottir, Adalbjorg
- Tryggvadottir, Laufey
- Alexiusdottir, Kristin
- Haraldsson, Asgeir
- le Roux, Louise
- Gudmundsson, Julius
- Johannsdottir, Hrefna
- Oddsson, Asmundur
- Gylfason, Arnaldur
- Magnusson, Olafur T
- Masson, Gisli
- Jonsson, Thorvaldur
- Skuladottir, Halla
- Gudbjartsson, Daniel F
- Thorsteinsdottir, Unnur
- Sulem, Patrick
- Stefansson, Kari
Producer: 20151026
In:
Nature genetics vol. 47
Availability: No items available.
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14.
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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. [electronic resource] by
- Jensson, Brynjar O
- Hansdottir, Sif
- Arnadottir, Gudny A
- Sulem, Gerald
- Kristjansson, Ragnar P
- Oddsson, Asmundur
- Benonisdottir, Stefania
- Jonsson, Hakon
- Helgason, Agnar
- Saemundsdottir, Jona
- Magnusson, Olafur T
- Masson, Gisli
- Thorisson, Gudmundur A
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sigurdsson, Asgeir
- Jonsdottir, Ingileif
- Petursdottir, Vigdis
- Kristinsson, Jon R
- Gudbjartsson, Daniel F
- Thorsteinsdottir, Unnur
- Arngrimsson, Reynir
- Sulem, Patrick
- Gudmundsson, Gunnar
- Stefansson, Kari
Producer: 20171129
In:
BMC medical genetics vol. 18
Availability: No items available.
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15.
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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase. [electronic resource] by
- Kristjansson, Ragnar P
- Oddsson, Asmundur
- Helgason, Hannes
- Sveinbjornsson, Gardar
- Arnadottir, Gudny A
- Jensson, Brynjar O
- Jonasdottir, Aslaug
- Jonasdottir, Adalbjorg
- Bragi Walters, G
- Sulem, Gerald
- Oskarsdottir, Arna
- Benonisdottir, Stefania
- Davidsson, Olafur B
- Masson, Gisli
- Magnusson, Olafur Th
- Holm, Hilma
- Sigurdardottir, Olof
- Jonsdottir, Ingileif
- Eyjolfsson, Gudmundur I
- Olafsson, Isleifur
- Gudbjartsson, Daniel F
- Thorsteinsdottir, Unnur
- Sulem, Patrick
- Stefansson, Kari
Producer: 20160615
In:
Nature communications vol. 7
Availability: No items available.
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16.
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Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death. [electronic resource] by
- Sveinbjornsson, Gardar
- Olafsdottir, Eva F
- Thorolfsdottir, Rosa B
- Davidsson, Olafur B
- Helgadottir, Anna
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Bjornsson, Eythor
- Jensson, Brynjar O
- Arnadottir, Gudny A
- Kristinsdottir, Hallfridur
- Stephensen, Sigurdur S
- Oskarsson, Gylfi
- Gudbjartsson, Tomas
- Sigurdsson, Emil L
- Andersen, Karl
- Danielsen, Ragnar
- Arnar, David O
- Jonsdottir, Ingileif
- Thorsteinsdottir, Unnur
- Sulem, Patrick
- Thorgeirsson, Gudmundur
- Gudbjartsson, Daniel F
- Holm, Hilma
- Stefansson, Kari
Producer: 20190926
In:
Circulation. Genomic and precision medicine vol. 11
Availability: No items available.
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17.
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MAP1B mutations cause intellectual disability and extensive white matter deficit. [electronic resource] by
- Walters, G Bragi
- Gustafsson, Omar
- Sveinbjornsson, Gardar
- Eiriksdottir, Valgerdur K
- Agustsdottir, Arna B
- Jonsdottir, Gudrun A
- Steinberg, Stacy
- Gunnarsson, Arni F
- Magnusson, Magnus I
- Unnsteinsdottir, Unnur
- Lee, Amy L
- Jonasdottir, Adalbjorg
- Sigurdsson, Asgeir
- Jonasdottir, Aslaug
- Skuladottir, Astros
- Jonsson, Lina
- Nawaz, Muhammad S
- Sulem, Patrick
- Frigge, Mike
- Ingason, Andres
- Love, Askell
- Norddhal, Gudmundur L
- Zervas, Mark
- Gudbjartsson, Daniel F
- Ulfarsson, Magnus O
- Saemundsen, Evald
- Stefansson, Hreinn
- Stefansson, Kari
Producer: 20181217
In:
Nature communications vol. 9
Availability: No items available.
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18.
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A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease. [electronic resource] by
- Bjornsson, Eythor
- Helgason, Hannes
- Halldorsson, Gisli
- Helgadottir, Anna
- Gylfason, Arnaldur
- Kehr, Birte
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Sigurdsson, Asgeir
- Oddsson, Asmundur
- Thorleifsson, Gudmar
- Magnusson, Olafur Th
- Gretarsdottir, Solveig
- Zink, Florian
- Kristjansson, Ragnar P
- Asgeirsdottir, Margret
- Swinkels, Dorine W
- Kiemeney, Lambertus A
- Eyjolfsson, Gudmundur I
- Sigurdardottir, Olof
- Masson, Gisli
- Olafsson, Isleifur
- Thorgeirsson, Gudmundur
- Holm, Hilma
- Thorsteinsdottir, Unnur
- Gudbjartsson, Daniel F
- Sulem, Patrick
- Stefansson, Kari
Producer: 20171012
In:
Human molecular genetics vol. 26
Availability: No items available.
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19.
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Multiple transmissions of de novo mutations in families. [electronic resource] by
- Jónsson, Hákon
- Sulem, Patrick
- Arnadottir, Gudny A
- Pálsson, Gunnar
- Eggertsson, Hannes P
- Kristmundsdottir, Snaedis
- Zink, Florian
- Kehr, Birte
- Hjorleifsson, Kristjan E
- Jensson, Brynjar Ö
- Jonsdottir, Ingileif
- Marelsson, Sigurdur Einar
- Gudjonsson, Sigurjon Axel
- Gylfason, Arnaldur
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Stacey, Simon N
- Magnusson, Olafur Th
- Thorsteinsdottir, Unnur
- Masson, Gisli
- Kong, Augustine
- Halldorsson, Bjarni V
- Helgason, Agnar
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20190424
In:
Nature genetics vol. 50
Availability: No items available.
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20.
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Parental influence on human germline de novo mutations in 1,548 trios from Iceland. [electronic resource] by
- Jónsson, Hákon
- Sulem, Patrick
- Kehr, Birte
- Kristmundsdottir, Snaedis
- Zink, Florian
- Hjartarson, Eirikur
- Hardarson, Marteinn T
- Hjorleifsson, Kristjan E
- Eggertsson, Hannes P
- Gudjonsson, Sigurjon Axel
- Ward, Lucas D
- Arnadottir, Gudny A
- Helgason, Einar A
- Helgason, Hannes
- Gylfason, Arnaldur
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Rafnar, Thorunn
- Frigge, Mike
- Stacey, Simon N
- Th Magnusson, Olafur
- Thorsteinsdottir, Unnur
- Masson, Gisli
- Kong, Augustine
- Halldorsson, Bjarni V
- Helgason, Agnar
- Gudbjartsson, Daniel F
- Stefansson, Kari
Producer: 20180226
In:
Nature vol. 549
Availability: No items available.
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