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Research | 7 January 2021
Differences between germline genomes of monozygotic twins
Nature Genetics 53 , 27–34

Rights & permissionsfor article Differences between germline genomes of monozygotic twins . Opens in a new window.
Amendments and Corrections | 20 September 2018
Author Correction: The rate of meiotic gene conversion varies by sex and age
Nature Genetics 50 , 1616–1616

Rights & permissionsfor article Author Correction: The rate of meiotic gene conversion varies by sex and age . Opens in a new window.
Research | 21 September 2017 | Open
Whole genome characterization of sequence diversity of 15,220 Icelanders
Scientific Data 4 , 1–9

Rights & permissionsfor article Whole genome characterization of sequence diversity of 15,220 Icelanders . Opens in a new window.
Research | 23 April 2020 | Open
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Communications Biology 3 , 1–10

Rights & permissionsfor article Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis . Opens in a new window.
Research | 5 May 2013
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
Nature 497 , 517–520

Rights & permissionsfor article Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits . Opens in a new window.
Research | 12 September 2010
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
- Gudmar Thorleifsson
- , G Bragi Walters
- , Alex W Hewitt
- , Gisli Masson
- , Agnar Helgason
- , Andrew DeWan
- , Asgeir Sigurdsson
- , Adalbjorg Jonasdottir
- , Sigurjon A Gudjonsson
- , Kristinn P Magnusson
- , Hreinn Stefansson
- , Dennis S C Lam
- , Pancy O S Tam
- , Gudrun J Gudmundsdottir
- , Laura Southgate
- , Kathryn P Burdon
- , Maria Soffia Gottfredsdottir
- , Micheala A Aldred
- , Paul Mitchell
- , David St Clair
- , David A Collier
- , Nelson Tang
- , Orn Sveinsson
- , Stuart Macgregor
- , Nicholas G Martin
- , Angela J Cree
- , Jane Gibson
- , Alex MacLeod
- , Aby Jacob
- , Sarah Ennis
- , Terri L Young
- , Juliana C N Chan
- , Wojciech S S Karwatowski
- , Christopher J Hammond
- , Kristjan Thordarson
- , Mingzhi Zhang
- , Claes Wadelius
- , Andrew J Lotery
- , Richard C Trembath
- , Chi Pui Pang
- , Josephine Hoh
- , Jamie E Craig
- , Augustine Kong
- , David A Mackey
- , Fridbert Jonasson
- , Unnur Thorsteinsdottir
- & Kari Stefansson
Nature Genetics 42 , 906–909

Rights & permissionsfor article Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma . Opens in a new window.
Research | 1 July 2007
Variants conferring risk of atrial fibrillation on chromosome 4q25
- Daniel F. Gudbjartsson
- , David O. Arnar
- , Anna Helgadottir
- , Solveig Gretarsdottir
- , Hilma Holm
- , Asgeir Sigurdsson
- , Adalbjorg Jonasdottir
- , Adam Baker
- , Gudmar Thorleifsson
- , Kristleifur Kristjansson
- , Arnar Palsson
- , Thorarinn Blondal
- , Patrick Sulem
- , Valgerdur M. Backman
- , Gudmundur A. Hardarson
- , Ebba Palsdottir
- , Agnar Helgason
- , Runa Sigurjonsdottir
- , Jon T. Sverrisson
- , Konstantinos Kostulas
- , Maggie C. Y. Ng
- , Larry Baum
- , Wing Yee So
- , Ka Sing Wong
- , Juliana C. N. Chan
- , Karen L. Furie
- , Steven M. Greenberg
- , Michelle Sale
- , Peter Kelly
- , Calum A. MacRae
- , Eric E. Smith
- , Jonathan Rosand
- , Jan Hillert
- , Ronald C. W. Ma
- , Patrick T. Ellinor
- , Gudmundur Thorgeirsson
- , Jeffrey R. Gulcher
- , Augustine Kong
- , Unnur Thorsteinsdottir
- & Kari Stefansson
Nature 448 , 353–357

Rights & permissionsfor article Variants conferring risk of atrial fibrillation on chromosome 4q25 . Opens in a new window.
Research | 28 October 2012
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
- Julius Gudmundsson
- , Patrick Sulem
- , Daniel F Gudbjartsson
- , Gisli Masson
- , Bjarni A Agnarsson
- , Kristrun R Benediktsdottir
- , Asgeir Sigurdsson
- , Olafur Th Magnusson
- , Sigurjon A Gudjonsson
- , Droplaug N Magnusdottir
- , Hrefna Johannsdottir
- , Hafdis Th Helgadottir
- , Simon N Stacey
- , Adalbjorg Jonasdottir
- , Stefania B Olafsdottir
- , Gudmar Thorleifsson
- , Jon G Jonasson
- , Laufey Tryggvadottir
- , Sebastian Navarrete
- , Fernando Fuertes
- , Brian T Helfand
- , Qiaoyan Hu
- , Irma E Csiki
- , Ioan N Mates
- , Viorel Jinga
- , Katja K H Aben
- , Inge M van Oort
- , Sita H Vermeulen
- , Jenny L Donovan
- , Freddy C Hamdy
- , Chi-Fai Ng
- , Peter K F Chiu
- , Kin-Mang Lau
- , Maggie C Y Ng
- , Jeffrey R Gulcher
- , Augustine Kong
- , William J Catalona
- , Jose I Mayordomo
- , Gudmundur V Einarsson
- , Rosa B Barkardottir
- , Eirikur Jonsson
- , Dana Mates
- , David E Neal
- , Lambertus A Kiemeney
- , Unnur Thorsteinsdottir
- , Thorunn Rafnar
- & Kari Stefansson
Nature Genetics 44 , 1326–1329

Rights & permissionsfor article A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer . Opens in a new window.
Research | 9 October 2011
Identification of low-frequency variants associated with gout and serum uric acid levels
- Patrick Sulem
- , Daniel F Gudbjartsson
- , G Bragi Walters
- , Hafdis T Helgadottir
- , Agnar Helgason
- , Sigurjon A Gudjonsson
- , Carlo Zanon
- , Soren Besenbacher
- , Gyda Bjornsdottir
- , Olafur T Magnusson
- , Gisli Magnusson
- , Eirikur Hjartarson
- , Jona Saemundsdottir
- , Arnaldur Gylfason
- , Adalbjorg Jonasdottir
- , Hilma Holm
- , Ari Karason
- , Thorunn Rafnar
- , Hreinn Stefansson
- , Ole A Andreassen
- , Jesper H Pedersen
- , Allan I Pack
- , Marieke C H de Visser
- , Lambertus A Kiemeney
- , Arni J Geirsson
- , Gudmundur I Eyjolfsson
- , Isleifur Olafsson
- , Augustine Kong
- , Gisli Masson
- , Helgi Jonsson
- , Unnur Thorsteinsdottir
- , Ingileif Jonsdottir
- & Kari Stefansson
Nature Genetics 43 , 1127–1130

Rights & permissionsfor article Identification of low-frequency variants associated with gout and serum uric acid levels . Opens in a new window.
Research | 22 August 2012
Rate of de novo mutations and the importance of father’s age to disease risk
Nature 488 , 471–475

Rights & permissionsfor article Rate of de novo mutations and the importance of father’s age to disease risk . Opens in a new window.
Research | 27 October 2010
Fine-scale recombination rate differences between sexes, populations and individuals
Nature 467 , 1099–1103

Rights & permissionsfor article Fine-scale recombination rate differences between sexes, populations and individuals . Opens in a new window.
Research | 16 April 2019 | Open
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
Nature Communications 10 , 1–10

Rights & permissionsfor article A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy . Opens in a new window.
Research | 27 August 2018 | Open
MAP1B mutations cause intellectual disability and extensive white matter deficit
Nature Communications 9 , 1–12

Rights & permissionsfor article MAP1B mutations cause intellectual disability and extensive white matter deficit . Opens in a new window.
Research | 5 November 2018
Multiple transmissions of de novo mutations in families
Nature Genetics 50 , 1674–1680

Rights & permissionsfor article Multiple transmissions of de novo mutations in families . Opens in a new window.
Research | 25 October 2018 | Open
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Nature Communications 9 , 1–9

Rights & permissionsfor article A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease . Opens in a new window.
Research | 8 February 2018 | Open
A rare missense variant in NR1H4 associates with lower cholesterol levels
Communications Biology 1 , 1–9

Rights & permissionsfor article A rare missense variant in NR1H4 associates with lower cholesterol levels . Opens in a new window.
Research | 25 September 2017
Graphtyper enables population-scale genotyping using pangenome graphs
Nature Genetics 49 , 1654–1660

Rights & permissionsfor article Graphtyper enables population-scale genotyping using pangenome graphs . Opens in a new window.
Research | 20 September 2017
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
Nature 549 , 519–522

Rights & permissionsfor article Parental influence on human germline de novo mutations in 1,548 trios from Iceland . Opens in a new window.
Research | 1 February 2016
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry
Nature Genetics 48 , 318–322

Rights & permissionsfor article HLA class II sequence variants influence tuberculosis risk in populations of European ancestry . Opens in a new window.
Research | 3 February 2016 | Open
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
Nature Communications 7 , 1–8

Rights & permissionsfor article Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase . Opens in a new window.
Research | 27 February 2017
Diversity in non-repetitive human sequences not found in the reference genome
Nature Genetics 49 , 588–593

Rights & permissionsfor article Diversity in non-repetitive human sequences not found in the reference genome . Opens in a new window.
Research | 19 September 2016
The rate of meiotic gene conversion varies by sex and age
Nature Genetics 48 , 1377–1384

Rights & permissionsfor article The rate of meiotic gene conversion varies by sex and age . Opens in a new window.
Research | 22 June 2015
Loss-of-function variants in ATM confer risk of gastric cancer
Nature Genetics 47 , 906–910

Rights & permissionsfor article Loss-of-function variants in ATM confer risk of gastric cancer . Opens in a new window.
Research | 25 March 2015
Identification of a large set of rare complete human knockouts
Nature Genetics 47 , 448–452

Rights & permissionsfor article Identification of a large set of rare complete human knockouts . Opens in a new window.
Research | 11 July 2010
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
- Solveig Gretarsdottir
- , Annette F Baas
- , Gudmar Thorleifsson
- , Hilma Holm
- , Martin den Heijer
- , Jean-Paul P M de Vries
- , Steef E Kranendonk
- , Clark J A M Zeebregts
- , Steven M van Sterkenburg
- , Robert H Geelkerken
- , Andre M van Rij
- , Michael J A Williams
- , Albert P M Boll
- , Jelena P Kostic
- , Adalbjorg Jonasdottir
- , Aslaug Jonasdottir
- , G Bragi Walters
- , Gisli Masson
- , Patrick Sulem
- , Jona Saemundsdottir
- , Magali Mouy
- , Kristinn P Magnusson
- , Gerard Tromp
- , James R Elmore
- , Natzi Sakalihasan
- , Raymond Limet
- , Jean-Olivier Defraigne
- , Robert E Ferrell
- , Antti Ronkainen
- , Ynte M Ruigrok
- , Cisca Wijmenga
- , Diederick E Grobbee
- , Svati H Shah
- , Christopher B Granger
- , Arshed A Quyyumi
- , Viola Vaccarino
- , Riyaz S Patel
- , A Maziar Zafari
- , Allan I Levey
- , Harland Austin
- , Domenico Girelli
- , Pier Franco Pignatti
- , Oliviero Olivieri
- , Nicola Martinelli
- , Giovanni Malerba
- , Elisabetta Trabetti
- , Lewis C Becker
- , Diane M Becker
- , Muredach P Reilly
- , Daniel J Rader
- , Thomas Mueller
- , Benjamin Dieplinger
- , Meinhard Haltmayer
- , Sigitas Urbonavicius
- , Bengt Lindblad
- , Anders Gottsäter
- , Eleonora Gaetani
- , Roberto Pola
- , Philip Wells
- , Marc Rodger
- , Melissa Forgie
- , Nicole Langlois
- , Javier Corral
- , Vicente Vicente
- , Jordi Fontcuberta
- , Francisco España
- , Niels Grarup
- , Torben Jørgensen
- , Daniel R Witte
- , Torben Hansen
- , Oluf Pedersen
- , Katja K Aben
- , Jacqueline de Graaf
- , Suzanne Holewijn
- , Lasse Folkersen
- , Anders Franco-Cereceda
- , Per Eriksson
- , David A Collier
- , Hreinn Stefansson
- , Valgerdur Steinthorsdottir
- , Thorunn Rafnar
- , Einar M Valdimarsson
- , Hulda B Magnadottir
- , Sigurlaug Sveinbjornsdottir
- , Isleifur Olafsson
- , Magnus Karl Magnusson
- , Robert Palmason
- , Vilhelmina Haraldsdottir
- , Karl Andersen
- , Pall T Onundarson
- , Gudmundur Thorgeirsson
- , Lambertus A Kiemeney
- , Janet T Powell
- , David J Carey
- , Helena Kuivaniemi
- , Jes S Lindholt
- , Gregory T Jones
- , Augustine Kong
- , Jan D Blankensteijn
- , Stefan E Matthiasson
- , Unnur Thorsteinsdottir
- & Kari Stefansson
Nature Genetics 42 , 692–697

Rights & permissionsfor article Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm . Opens in a new window.
Research | 17 December 2009
Parental origin of sequence variants associated with complex diseases
- Augustine Kong
- , Valgerdur Steinthorsdottir
- , Gisli Masson
- , Gudmar Thorleifsson
- , Patrick Sulem
- , Soren Besenbacher
- , Aslaug Jonasdottir
- , Asgeir Sigurdsson
- , Kari Th. Kristinsson
- , Adalbjorg Jonasdottir
- , Michael L. Frigge
- , Arnaldur Gylfason
- , Pall I. Olason
- , Sigurjon A. Gudjonsson
- , Sverrir Sverrisson
- , Simon N. Stacey
- , Bardur Sigurgeirsson
- , Kristrun R. Benediktsdottir
- , Helgi Sigurdsson
- , Thorvaldur Jonsson
- , Rafn Benediktsson
- , Jon H. Olafsson
- , Oskar Th. Johannsson
- , Astradur B. Hreidarsson
- , Gunnar Sigurdsson
- , Benjamin F. Voight
- , Laura J. Scott
- , Valgerdur Steinthorsdottir
- , Christian Dina
- , Eleftheria Zeggini
- , Cornelia Huth
- , Yurii S. Aulchenko
- , Ryan P. Welch
- , Gudmar Thorleifsson
- , Laura J. McCulloch
- , Teresa Ferreira
- , Harald Grallert
- , Najaf Amin
- , Guanming Wu
- , Cristen J. Willer
- , Soumya Raychaudhuri
- , Shaun Purcell
- , Steve A. McCarroll
- , Claudia Langenberg
- , Oliver M. Hoffmann
- , Josée Dupuis
- , Lu Qi
- , Ayellet V. Segrè
- , Mandy van Hoek
- , Pau Navarro
- , Kristin Ardlie
- , Beverley Balkau
- , Rafn Benediktsson
- , Amanda J. Bennett
- , Roza Blagieva
- , Eric Boerwinkle
- , Lori L. Bonnycastle
- , Kristina Bengtsson Boström
- , Bert Bravenboer
- , Suzannah Bumpstead
- , Noël P. Burtt
- , Guillaume Charpentier
- , Peter S. Chines
- , Marilyn Cornelis
- , David J. Couper
- , Gabe Crawford
- , Alex S. F. Doney
- , Katherine S. Elliott
- , Amanda L. Elliott
- , Michael R. Erdos
- , Caroline S. Fox
- , Christopher S. Franklin
- , Martha Ganser
- , Christian Gieger
- , Niels Grarup
- , Todd Green
- , Simon Griffin
- , Christopher J. Groves
- , Candace Guiducci
- , Samy Hadjadj
- , Neelam Hassanali
- , Christian Herder
- , Bo Isomaa
- , Anne U. Jackson
- , Paul R. V. Johnson
- , Torben Jørgensen
- , Wen H. L. Kao
- , Norman Klopp
- , Augustine Kong
- , Peter Kraft
- , Johanna Kuusisto
- , Torsten Lauritzen
- , Man Li
- , Alouisius Lieverse
- , Cecilia M. Lindgren
- , Valeriya Lyssenko
- , Michel Marre
- , Thomas Meitinger
- , Kristian Midthjell
- , Mario A Morken
- , Narisu Narisu
- , Peter Nilsson
- , Katharine R. Owen
- , Felicity Payne
- , John R. B. Perry
- , Ann-Kristin Petersen
- , Carl Platou
- , Christine Proença
- , Inga Prokopenko
- , Wolfgang Rathmann
- , N. William Rayner
- , Neil R. Robertson
- , Ghislain Rocheleau
- , Michael Roden
- , Michael J. Sampson
- , Richa Saxena
- , Beverley M. Shields
- , Peter Shrader
- , Gunnar Sigurdsson
- , Nicholas Smith
- , Thomas Sparsø
- , Klaus Strassburger
- , Heather M. Stringham
- , Qi Sun
- , Amy J. Swift
- , Barbara Thorand
- , Jean Tichet
- , Tiinamaija Tuomi
- , Rob van Dam
- , Thijs van Herpt
- , G. Bragi Walters
- , Michael N. Weedon
- , Jacqueline Witteman
- , Richard N. Bergman
- , Stephane Cauchi
- , Francis S. Collins
- , Anna L. Gloyn
- , Ulf Gyllensten
- , Torben Hansen
- , Winston A. Hide
- , Graham A. Hitman
- , Albert Hofman
- , David Hunter
- , Kristian Hveem
- , Markku Laakso
- , Karen L. Mohlke
- , Andrew D. Morris
- , Colin N. A. Palmer
- , Peter P. Pramstaller
- , Igor Rudan
- , Eric Sijbrands
- , Lincoln D. Stein
- , Jaakko Tuomilehto
- , Andre Uitterlinden
- , Mark Walker
- , Nicholas J. Wareham
- , Richard M. Watanabe
- , Goncalo R. Abecasis
- , Inês Barroso
- , Bernhard O. Boehm
- , Harry Campbell
- , Mark J. Daly
- , Jose C. Florez
- , Timothy M. Frayling
- , Leif Groop
- , Andrew T. Hattersley
- , Frank B. Hu
- , James B. Meigs
- , Andrew P. Morris
- , James S. Pankow
- , Oluf Pedersen
- , Rob Sladek
- , Unnur Thorsteinsdottir
- , H.-Erich Wichmann
- , James F. Wilson
- , Thomas Illig
- , Philippe Froguel
- , Cornelia M. van Duijn
- , Kari Stefansson
- , David Altshuler
- , Michael Boehnke
- , Mark I. McCarthy.
- , Anne C. Ferguson-Smith
- , Daniel F. Gudbjartsson
- , Unnur Thorsteinsdottir
- & Kari Stefansson
Nature 462 , 868–874

Rights & permissionsfor article Parental origin of sequence variants associated with complex diseases . Opens in a new window.
Research | 7 April 2010
A sequence variant on 17q21 is associated with age at onset and severity of asthma
- Eva Halapi
- , Daniel F Gudbjartsson
- , Gudrun M Jonsdottir
- , Unnur S Bjornsdottir
- , Gudmar Thorleifsson
- , Hafdis Helgadottir
- , Carolyn Williams
- , Gerard H Koppelman
- , Andrea Heinzmann
- , H Marike Boezen
- , Aslaug Jonasdottir
- , Thorarinn Blondal
- , Sigurjon A Gudjonsson
- , Adalbjorg Jonasdottir
- , Theodora Thorlacius
- , Amanda P Henry
- , Janine Altmueller
- , Marcus Krueger
- , Hyoung Doo Shin
- , Soo-Taek Uh
- , Hyun Sub Cheong
- , Brynja Jonsdottir
- , Bjorn R Ludviksson
- , Dora Ludviksdottir
- , David Gislason
- , Choon-Sik Park
- , Klaus Deichmann
- , Philip J Thompson
- , Matthias Wjst
- , Ian P Hall
- , Dirkje S Postma
- , Thorarinn Gislason
- , Augustine Kong
- , Ingileif Jonsdottir
- , Unnur Thorsteinsdottir
- & Kari Stefansson
European Journal of Human Genetics 18 , 902–908

Rights & permissionsfor article A sequence variant on 17q21 is associated with age at onset and severity of asthma . Opens in a new window.
Research | 11 September 2008
Large recurrent microdeletions associated with schizophrenia
- Hreinn Stefansson
- , Dan Rujescu
- , Sven Cichon
- , Olli P. H. Pietiläinen
- , Andres Ingason
- , Stacy Steinberg
- , Ragnheidur Fossdal
- , Engilbert Sigurdsson
- , Thordur Sigmundsson
- , Jacobine E. Buizer-Voskamp
- , Thomas Hansen
- , Klaus D. Jakobsen
- , Pierandrea Muglia
- , Clyde Francks
- , Paul M. Matthews
- , Arnaldur Gylfason
- , Bjarni V. Halldorsson
- , Daniel Gudbjartsson
- , Thorgeir E. Thorgeirsson
- , Asgeir Sigurdsson
- , Adalbjorg Jonasdottir
- , Aslaug Jonasdottir
- , Asgeir Bjornsson
- , Sigurborg Mattiasdottir
- , Thorarinn Blondal
- , Magnus Haraldsson
- , Brynja B. Magnusdottir
- , Ina Giegling
- , Hans-Jürgen Möller
- , Annette Hartmann
- , Kevin V. Shianna
- , Dongliang Ge
- , Anna C. Need
- , Caroline Crombie
- , Gillian Fraser
- , Nicholas Walker
- , Jouko Lonnqvist
- , Jaana Suvisaari
- , Annamarie Tuulio-Henriksson
- , Tiina Paunio
- , Timi Toulopoulou
- , Elvira Bramon
- , Marta Di Forti
- , Robin Murray
- , Mirella Ruggeri
- , Evangelos Vassos
- , Sarah Tosato
- , Muriel Walshe
- , Tao Li
- , Catalina Vasilescu
- , Thomas W. Mühleisen
- , August G. Wang
- , Henrik Ullum
- , Srdjan Djurovic
- , Ingrid Melle
- , Jes Olesen
- , Lambertus A. Kiemeney
- , Barbara Franke
- , René S. Kahn
- , Don H. Linszen
- , Jim van Os
- , Durk Wiersma
- , Richard Bruggeman
- , Wiepke Cahn
- , Lieuwe de Haan
- , Lydia Krabbendam
- , Inez Myin-Germeys
- , Chiara Sabatti
- , Nelson B. Freimer
- , Jeffrey R. Gulcher
- , Unnur Thorsteinsdottir
- , Augustine Kong
- , Ole A. Andreassen
- , Roel A. Ophoff
- , Alexander Georgi
- , Marcella Rietschel
- , Thomas Werge
- , Hannes Petursson
- , David B. Goldstein
- , Markus M. Nöthen
- , Leena Peltonen
- , David A. Collier
- , David St Clair
- & Kari Stefansson
Nature 455 , 232–236

Rights & permissionsfor article Large recurrent microdeletions associated with schizophrenia . Opens in a new window.
Research | 2 October 2011
Mutations in BRIP1 confer high risk of ovarian cancer
Nature Genetics 43 , 1104–1107

Rights & permissionsfor article Mutations in BRIP1 confer high risk of ovarian cancer . Opens in a new window.
Research | 16 March 2008
Genetics of gene expression and its effect on disease
Nature 452 , 423–428

Rights & permissionsfor article Genetics of gene expression and its effect on disease . Opens in a new window.

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Differences between germline genomes of monozygotic twins

Author Correction: The rate of meiotic gene conversion varies by sex and age

Whole genome characterization of sequence diversity of 15,220 Icelanders

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Variants conferring risk of atrial fibrillation on chromosome 4q25

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Identification of low-frequency variants associated with gout and serum uric acid levels

Rate of de novo mutations and the importance of father’s age to disease risk

Fine-scale recombination rate differences between sexes, populations and individuals

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

MAP1B mutations cause intellectual disability and extensive white matter deficit

Multiple transmissions of de novo mutations in families

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

A rare missense variant in NR1H4 associates with lower cholesterol levels

Graphtyper enables population-scale genotyping using pangenome graphs

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

Diversity in non-repetitive human sequences not found in the reference genome

The rate of meiotic gene conversion varies by sex and age

Loss-of-function variants in ATM confer risk of gastric cancer

Identification of a large set of rare complete human knockouts

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Parental origin of sequence variants associated with complex diseases

A sequence variant on 17q21 is associated with age at onset and severity of asthma

Large recurrent microdeletions associated with schizophrenia

Mutations in BRIP1 confer high risk of ovarian cancer

Genetics of gene expression and its effect on disease

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