Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

Somatic mosaicism in healthy human tissues

(2011) Subhajyoti De   TRENDS IN GENETICS

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

(2010) Hamid Reza Razzaghian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Function of TCF7L2: Consequences of TCF7L2 Splicing for Molecular Function and Risk for Type 2 Diabetes

(2010) Ola Hansson et al.   Current Diabetes Reports

Connective tissue fibroblasts and Tcf4 regulate myogenesis

(2010) S. J. Mathew et al.   DEVELOPMENT

Concordance for Bilateral Congenital Diaphragmatic Hernia in a Monozygotic Dichorionic Twin Pair – First Clinical Report

(2010) A.P. Machado et al.   FETAL DIAGNOSIS AND THERAPY

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Genetics: Random expression goes binary

(2010) Adrian Streit et al.   NATURE

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

(2010) Danielle Veenma et al.   PLoS One

Copy number variation and mosaicism

(2009) A.J. Notini et al.   CYTOGENETIC AND GENOME RESEARCH

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Discordance in twins for esophageal atresia with tracheoesophageal fistula

(2009) Rizwan Ahmed Khan et al.   INDIAN JOURNAL OF PEDIATRICS

DNA methylation profiles in monozygotic and dizygotic twins

(2009) Zachary A Kaminsky et al.   NATURE GENETICS

Genetic control of global gene expression levels in the intestinal mucosa: a human twin study

(2009) Robert Häsler et al.   PHYSIOLOGICAL GENOMICS

Molecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A Mutations

(2009) Fumihiko Nakamura et al.   PLoS One

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

(2008) Bixia Xiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic tools and algorithms for gene discovery in major congenital anomalies

(2008) Patricia K. Donahoe et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Esophageal atresia with tracheoesophageal fistula in both members of monozygotic twins

(2008) Koichi Ohno et al.   PEDIATRIC SURGERY INTERNATIONAL

The coxsackie and adenovirus receptor (CAR) is required for renal epithelial differentiation within the zebrafish pronephros

(2007) Elisabeth Raschperger et al.   DEVELOPMENTAL BIOLOGY