(Q33895010)

29 July 2017

title

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts (English)

1 reference

29 July 2017

Alexandre Bureau

1

0 references

Joan Bailey-Wilson

object named as

Joan E Bailey-Wilson

11

0 references

Markus M Nöthen

object named as

Markus M Noethen

8

0 references

Mary L. Marazita

5

object named as

Mary L Marazita

1 reference

29 July 2017

Margaret M Parker

2

1 reference

29 July 2017

Ingo Ruczinski

3

1 reference

29 July 2017

Margaret A Taub

4

1 reference

29 July 2017

Jeffrey C Murray

6

1 reference

29 July 2017

Elisabeth Mangold

7

1 reference

29 July 2017

Kirsten U Ludwig

9

1 reference

29 July 2017

Jacqueline B Hetmanski

10

1 reference

29 July 2017

Cheryl D Cropp

12

1 reference

29 July 2017

Qing Li

13

1 reference

29 July 2017

Silke Szymczak

14

1 reference

29 July 2017

Hasan Albacha-Hejazi

15

1 reference

29 July 2017

Khalid Alqosayer

16

1 reference

29 July 2017

L Leigh Field

17

1 reference

29 July 2017

Yah-Huei Wu-Chou

18

1 reference

29 July 2017

Kimberly F Doheny

19

1 reference

29 July 2017

Hua Ling

20

1 reference

29 July 2017

Alan F Scott

21

1 reference

29 July 2017

Terri H Beaty

22

1 reference

29 July 2017

language of work or name

English

0 references

publication date

2 May 2014

1 reference

29 July 2017

1 reference

29 July 2017

volume

197

1 reference

29 July 2017

issue

3

1 reference

29 July 2017

page(s)

1039-1044

1 reference

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Predicting functional effect of human missense mutations using PolyPhen-2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

The evolution of human genetic studies of cleft lip and cleft palate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Breakthroughs in the genetics of orofacial clefting

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Design considerations for massively parallel sequencing studies of complex human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Cleft lip and palate: understanding genetic and environmental influences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Robust relationship inference in genome-wide association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

An overview of the genetic dissection of complex traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

SIFT: Predicting amino acid changes that affect protein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Association between CDH1 and MSX1 gene polymorphisms and the risk of nonsyndromic cleft lip and/or cleft palate in a southeast Iranian population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4096358

A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24793288

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1534/GENETICS.114.165225

1 reference

29 July 2017

1 reference

29 July 2017

1 reference