Family-based designs for genome-wide association studies

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

(2010) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure

(2010) Timothy Thornton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Essence of Linkage-based Imprinting Detection: Comparing Power, Type 1 Error, and the Effects of Confounders in Two Different Analysis Approaches

(2010) David A. Greenberg et al.   ANNALS OF HUMAN GENETICS

On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples

(2010) Amy Murphy et al.   GENETIC EPIDEMIOLOGY

Comparison of association mapping methods in a complex pedigreed population

(2010) Goutam Sahana et al.   GENETIC EPIDEMIOLOGY

Exome sequencing: the sweet spot before whole genomes

(2010) J. K. Teer et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ALK, Lung Cancer, and Personalized Therapy: Portent of the Future?

(2010) Ken Garber   JNCI-Journal of the National Cancer Institute

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

MHC fine mapping of human type 1 diabetes using the T1DGC data

(2009) C. He et al.   DIABETES OBESITY & METABOLISM

Analysis of maternal-offspring HLA compatibility, parent-of-origin and non-inherited maternal effects for the classical HLA loci in type 1 diabetes

(2009) P. G. Bronson et al.   DIABETES OBESITY & METABOLISM

Parsing the Effects of Individual SNPs in Candidate Genes with Family Data

(2009) Thomas J. Hoffmann et al.   HUMAN HEREDITY

Haplotyping Methods for Pedigrees

(2009) Guimin Gao et al.   HUMAN HEREDITY

Evaluation of Approaches to Identify Associated SNPs That Explain the Linkage Evidence in Nuclear Families with Affected Siblings

(2009) Ming-Huei Chen et al.   HUMAN HEREDITY

Control of fetal hemoglobin: new insights emerging from genomics and clinical implications

(2009) S. L. Thein et al.   HUMAN MOLECULAR GENETICS

Developmental and species-divergent globin switching are driven by BCL11A

(2009) Vijay G. Sankaran et al.   NATURE

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

(2009) Mario Capasso et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

On the Analysis of Genome-Wide Association Studies in Family-Based Designs: A Universal, Robust Analysis Approach and an Application to Four Genome-Wide Association Studies

(2009) Sungho Won et al.   PLoS Genetics

Genome-wide scan in 124 Indonesian sib-pair families with schizophrenia reveals genome-wide significant linkage to a locus on chromosome 3p26-21

(2008) Irmansyah et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

CD14and Toll-like Receptor Gene Polymorphisms, Country Living, and Asthma in Adults

(2008) Lidwien A. M. Smit et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

(2008) Iuliana Ionita-Laza et al.   GENETIC EPIDEMIOLOGY

FBAT-SNP-PC: An Approach for Multiple Markers and Single Trait in Family-Based Association Tests

(2008) Cyril S. Rakovski et al.   HUMAN HEREDITY

A ringleader identified

(2008) Charis Eng   NATURE

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

Identification of ALK as a major familial neuroblastoma predisposition gene

(2008) Yaël P. Mossé et al.   NATURE

Activating mutations in ALK provide a therapeutic target in neuroblastoma

(2008) Rani E. George et al.   NATURE

Oncogenic mutations of ALK kinase in neuroblastoma

(2008) Yuyan Chen et al.   NATURE

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

(2008) Isabelle Janoueix-Lerosey et al.   NATURE

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

(2008) Andre Franke et al.   NATURE GENETICS

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

(2008) Jeffrey C Barrett et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma

(2008) John M. Maris et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Review of Family-Based Tests for Linkage Disequilibrium between a Quantitative Trait and a Genetic Marker

(2008) Warren J. Ewens et al.   PLoS Genetics