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

pengarang

Alexandre Bureau

Joan Bailey-Wilson

1953 -

Markus M Nöthen

Mary L. Marazita

diterbitkan dalam: Genetics

tanggal publikasi: 2014-05-02

bahasa: Inggris

Cites articles 21

Date

Judul

Pengarang

2014-04-16

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

Alexandre Bureau, Joan Bailey-Wilson, Mary L. Marazita
2013-07-03

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

David N. Cooper, Chris Tyler-Smith, Constantin Polychronakos, Michael Krawczak, Hildegard Kehrer-Sawatzki
2013-03-20

Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study
2013-01-01

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

Daniel M. Jordan
2012-09-01

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

Ingo Ruczinski, Sven Cichon, Peter Propping, Manuel Mattheisen, Nikolaos Daratsianos, Stefan Herms, Per Hoffmann, Michele Rubini, Markus M Nöthen, Regine PM Steegers-Theunissen, Mary L. Marazita, Thomas F Wienker, Jeffrey C Murray, Terri H Beaty, Kerstin U Ludwig, Anne C Böhmer, Elisabeth Mangold, Margrieta A. Alblas, Nadine Kluck, Heiko Reutter, Carola Lauster, Bert Braumann, Alexander Hemprich, Simone Pötzsch, Bettina Blaumeiser, Franz-Josef Kramer, Sandra Barth
2012-06-06

The evolution of human genetic studies of cleft lip and cleft palate
2012-12-11

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

Hooshang Rafighdoost, Mohammad Hashemi, Mohsen Taheri
2012-11-29

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

Raquel Seruca, Carine E Carels, Ingrid P Vogelaar, Joana Figueiredo, Joana Simões Correia, Soraia Melo, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
2011-08-30

Breakthroughs in the genetics of orofacial clefting

Markus M Nöthen
2011-08-05

Design considerations for massively parallel sequencing studies of complex human disease

Melissa C. Southey, David Goldgar
2011-03

Cleft lip and palate: understanding genetic and environmental influences

Mary L. Marazita
2010-10-05

Robust relationship inference in genome-wide association studies
2009-06-11

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

Sandra Daack-Hirsch, Mauricio Arcos-Burgos, Mary L. Marazita
2009-04-29

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

Abee Lowman Boyles, Sandra Daack-Hirsch, Allen Wilcox, Kaare Christensen
2009-02-01

AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts

Ariadne Letra, José Mauro Granjeiro
2009-12

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

Markus Martini, Manuel Mattheisen, Markus M Nöthen
2008-01-01

An overview of the genetic dissection of complex traits
2005-04-14

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

Carla Graziadio, Sérgio Castedo, Carla Oliveira, Raquel Seruca, Fatima Carneiro
2004-06-04

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

Natalie J. Prescott, Sandra Daack-Hirsch, Mauricio Arcos-Burgos, Joan Bailey-Wilson, Matthew Edwards, Mary L. Marazita
2003-07-01

SIFT: Predicting amino acid changes that affect protein function
2003-12-01

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

Joan Bailey-Wilson

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