(Q34468556)

2 August 2017

Identification of a large set of rare complete human knockouts (English)

1 reference

2 August 2017

Daníel F. Guðbjartsson

18

1 reference

2 August 2017

Unnur Þorsteinsdóttir

16

Unnur Thorsteinsdottir

0 references

Aslaug Jonasdottir

10

Aslaug Jonasdottir

0 references

Adalbjorg Jonasdottir

9

Adalbjorg Jonasdottir

0 references

Hreinn Stefansson

Hreinn Stefansson

4

0 references

Augustine Kong

Augustine Kong

13

0 references

Patrick Sulem

1

Patrick Sulem

1 reference

2 August 2017

19

Kari Stefansson

1 reference

2 August 2017

17

Gisli Masson

1 reference

2 August 2017

11

Asgeir Sigurdsson

1 reference

2 August 2017

14

Agnar Helgason

1 reference

2 August 2017

3

Asmundur Oddson

1 reference

2 August 2017

Sigurjon A Gudjonsson

5

Sigurjon A Gudjonsson

1 reference

2 August 2017

6

Florian Zink

1 reference

2 August 2017

7

Eirikur Hjartarson

1 reference

2 August 2017

15

Hilma Holm

1 reference

2 August 2017

Hannes Helgason

2

1 reference

2 August 2017

Gunnar Th Sigurdsson

8

1 reference

2 August 2017

Olafur Th Magnusson

12

1 reference

2 August 2017

language of work or name

English

0 references

publication date

25 March 2015

1 reference

2 August 2017

1 reference

2 August 2017

47

1 reference

2 August 2017

448-452

1 reference

2 August 2017

5

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3243

2 August 2017

0 references

cites work

The Sequence Ontology: a tool for the unification of genome annotations

1 reference

7 January 2021

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

7 January 2021

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

1 reference

7 January 2021

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

1 reference

7 January 2021

Gene expression divergence in yeast is coupled to evolution of DNA-encoded nucleosome organization

1 reference

7 January 2021

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

1 reference

7 January 2021

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

7 January 2021

Mendelian Inheritance in Man and its online version, OMIM

1 reference

7 January 2021

Human-specific insertions and deletions inferred from mammalian genome sequences

1 reference

7 January 2021

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

1 reference

7 January 2021

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

1 reference

7 January 2021

RETRACTED: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function

1 reference

7 January 2021

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

7 January 2021

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

1 reference

7 January 2021

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

1 reference

7 January 2021

The human phenotype ontology.

1 reference

7 January 2021

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

1 reference

7 January 2021

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

1 reference

7 January 2021

Human Gene Mutation Database

1 reference

7 January 2021

Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland

1 reference

7 January 2021

Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics

1 reference

7 January 2021

The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse

1 reference

7 January 2021

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

7 January 2021

Genetic screens in human cells using the CRISPR-Cas9 system

1 reference

7 January 2021

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

7 January 2021

Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis

1 reference

7 January 2021

Integrative annotation of variants from 1092 humans: application to cancer genomics

1 reference

7 January 2021

Rare and common regulatory variation in population-scale sequenced human genomes

1 reference

7 January 2021

Transcriptome and genome sequencing uncovers functional variation in humans

1 reference

7 January 2021

Nonsense-mediated mRNA decay: terminating erroneous gene expression

1 reference

7 January 2021

A systematic genome-wide analysis of zebrafish protein-coding gene function

1 reference

7 January 2021

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

1 reference

7 January 2021

Cross-repressive interactions between Lrig3 and netrin 1 shape the architecture of the inner ear.

1 reference

7 January 2021

Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1

1 reference

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG.3243

1 reference

2 August 2017

1 reference