(Q36129488)

12 August 2017

Structural diversity and African origin of the 17q21.31 inversion polymorphism (English)

1 reference

12 August 2017

2

1 reference

12 August 2017

3

1 reference

12 August 2017

Karyn Meltz Steinberg

object named as

Karyn Meltz Steinberg

1

0 references

Jeffrey M. Kidd

object named as

Jeffrey M Kidd

4

0 references

Jean-Marie Bodo

14

object named as

Jean-Marie Bodo

1 reference

12 August 2017

11

Godfrey Lema

1 reference

12 August 2017

8

Laura Scheinfeldt

1 reference

12 August 2017

18

Sarah A Tishkoff

1 reference

12 August 2017

17

Kenneth K Kidd

1 reference

12 August 2017

19

Evan E Eichler

1 reference

12 August 2017

15

Alain Froment

1 reference

12 August 2017

7

Maika Malig

1 reference

12 August 2017

5

Catarina D Campbell

1 reference

12 August 2017

Laura Vives

6

1 reference

12 August 2017

William Beggs

9

1 reference

12 August 2017

Muntaser Ibrahim

10

1 reference

12 August 2017

Thomas B Nyambo

12

1 reference

12 August 2017

Sabah A Omar

13

1 reference

12 August 2017

Michael P Donnelly

16

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 July 2012

1 reference

12 August 2017

1 reference

12 August 2017

44

1 reference

12 August 2017

8

1 reference

12 August 2017

872-880

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.2335

12 August 2017

0 references

cites work

Structural haplotypes and recent evolution of the human 17q21.31 region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A copy number variation morbidity map of developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Variation in human recombination rates and its genetic determinants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Population-genetic properties of differentiated human copy-number polymorphisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Hunter-gatherer genomic diversity suggests a southern African origin for modern humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Genetic history of an archaic hominin group from Denisova Cave in Siberia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Diversity of human copy number variation and multicopy genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A widespread chromosomal inversion polymorphism contributes to a major life-history transition, local adaptation, and reproductive isolation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Targeted enrichment of specific regions in the human genome by array hybridization

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A Draft Sequence of the Neandertal Genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Complete Khoisan and Bantu genomes from southern Africa

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Effect of Childhood Trauma on Adult Depression and Neuroendocrine Function: Sex-Specific Moderation by CRH Receptor 1 Gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

The distribution and most recent common ancestor of the 17q21 inversion in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Genome-wide association study reveals genetic risk underlying Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Protective effect of CRHR1 gene variants on the development of adult depression following childhood maltreatment: replication and extension

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

The genetic structure and history of Africans and African Americans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Characterization of six human disease-associated inversion polymorphisms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

DnaSP v5: a software for comprehensive analysis of DNA polymorphism data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Evolutionary toggling of the MAPT 17q21.31 inversion region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Emerging themes and new challenges in defining the role of structural variation in human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Haplotype sorting using human fosmid clone end-sequence pairs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Mapping and sequencing of structural variation from eight human genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Clustal W and Clustal X version 2.0

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Inversions in the Chromosomes of Drosophila Pseudoobscura

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Fine-scale structural variation of the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

A common inversion under selection in Europeans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Recombination rate and reproductive success in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Human non-synonymous SNPs: server and survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Recent segmental duplications in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Characterization of single-nucleotide polymorphisms in coding regions of human genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Genetics of natural populations. XIX. Origin of heterosis through natural selection in populations of Drosophila pseudoobscura

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Association study of corticotropin-releasing hormone receptor1 gene polymorphisms and antidepressant response in major depressive disorders.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Genome structural variation and sporadic disease traits

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

The structure of the tau haplotype in controls and in progressive supranuclear palsy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3408829

Association of corticotropin-releasing hormone receptor1 gene SNP and haplotype with major depression

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22751100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2335

inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2335

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.2335

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22751100

1 reference