Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

The biology of pediatric acute megakaryoblastic leukemia

(2015) T. A. Gruber et al.   BLOOD

GATA6 expression in Barrett's oesophagus and oesophageal adenocarcinoma

(2015) Kirill Pavlov et al.   DIGESTIVE AND LIVER DISEASE

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies

(2014) Erwin Brosens et al.   European Journal of Medical Genetics

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis

(2013) Ellen van Binsbergen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: Possible role of theGSTP1gene in esophagus malformation

(2013) Tatiana Ferreira de Almeida et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

De novo microduplications at 1q41, 2q37.3 and 8q24.3 in patients with VATER/VACTERL association

(2013) Alina Hilger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

(2013) Robert Smigiel et al.   European Journal of Medical Genetics

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

(2013) Ling Oei et al.   JOURNAL OF MEDICAL GENETICS

Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia

(2013) Damian Bednarczyk et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions

(2012) Rikke Neess Pedersen et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Nine new twin pairs with esophageal atresia: A review of the literature and performance of a twin study of the disorder

(2012) Anna Carina Schulz et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

(2012) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

(2011) Benjamin D. Solomon et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

(2011) Marie Cognet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

(2011) Stanislas Faguer et al.   European Journal of Medical Genetics

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

(2011) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

Genetic Factors in Isolated and Syndromic Esophageal Atresia

(2011) David Geneviève et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

(2010) Cammon B. Arrington et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Detection of subtle reciprocal translocations by fluorescence in situ hybridization

(2010) Frank Speleman et al.   CLINICAL GENETICS

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Esophageal stenosis in a child presenting a de novo 7q terminal deletion

(2010) Paulo R.G. Zen et al.   European Journal of Medical Genetics

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

(2009) M. Cristina Digilio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: An overview of the current concepts

(2009) Janine F. Felix et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects

(2009) SB Freeman et al.   CLINICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

FGF9 monomer–dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

(2009) Masayo Harada et al.   NATURE GENETICS

A robust statistical method for case-control association testing with copy number variation

(2008) Chris Barnes et al.   NATURE GENETICS