Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease

Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births

(2019) Philip J. Lupo et al.   JAMA Oncology

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B

(2018) Rachel C Lombardo et al.   GENETICS IN MEDICINE

Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor

(2018) Flora Cimmino et al.   INTERNATIONAL JOURNAL OF CANCER

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

(2017) Sophie Hackinger et al.   HUMAN MOLECULAR GENETICS

The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma

(2017) Mario Capasso et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome

(2017) Alper Ozcan et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Comparative expression analysis of Shox2 -deficient embryonic stem cell-derived sinoatrial node-like cells

(2017) Sandra Hoffmann et al.   Stem Cell Research

The shared and specific mechanism of four autoimmune diseases

(2017) Meiwei Luan et al.   Oncotarget

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

(2017) Lee D. McDaniel et al.   PLoS Genetics

Variant Set Enrichment: an R package to identify disease-associated functional genomic regions

(2017) Musaddeque Ahmed et al.   BioData Mining

Dualistic Role of BARD1 in Cancer

(2017) Flora Cimmino et al.   Genes

Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation

(2016) Sandra Hoffmann et al.   BASIC RESEARCH IN CARDIOLOGY

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

(2016) G. Fehringer et al.   CANCER RESEARCH

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

(2016) Stephanie LaHaye et al.   Circulation-Cardiovascular Genetics

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

(2016) S. P. Kar et al.   Cancer Discovery

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

(2016) Stephanie LaHaye et al.   Circulation-Cardiovascular Genetics

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

(2015) Yun R Li et al.   NATURE MEDICINE

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Common Genetic Variants in NEFL Influence Gene Expression and Neuroblastoma Risk

(2014) M. Capasso et al.   CANCER RESEARCH

Haplotype Estimation Using Sequencing Reads

(2013) Olivier Delaneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Replacing Shox2 with human SHOX leads to congenital disc degeneration of the temporomandibular joint in mice

(2013) Xihai Li et al.   CELL AND TISSUE RESEARCH

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

(2013) Heather J Cordell et al.   NATURE GENETICS

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

(2012) Katherine S Elliott et al.   ANNALS OF THE RHEUMATIC DISEASES

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

(2012) Mario Capasso et al.   CARCINOGENESIS

The neural crest in cardiac congenital anomalies

(2012) Anna Keyte et al.   DIFFERENTIATION

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

(2011) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Shox2 function couples neural, muscular and skeletal development in the proximal forelimb

(2010) Lori Vickerman et al.   DEVELOPMENTAL BIOLOGY

20-year survival of children born with congenital anomalies: a population-based study

(2010) Peter WG Tennant et al.   LANCET

Recent Advances in Neuroblastoma

(2010) John M. Maris   NEW ENGLAND JOURNAL OF MEDICINE

Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies

(2009) Priya Duggal et al.   BMC GENOMICS

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

(2009) Mario Capasso et al.   NATURE GENETICS

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

(2008) Klaartje van Engelen et al.   EUROPEAN JOURNAL OF PEDIATRICS

The MSX1 homeobox transcription factor is a downstream target of PHOX2B and activates the Delta–Notch pathway in neuroblastoma

(2007) Ingrid Revet et al.   EXPERIMENTAL CELL RESEARCH