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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.77-83

2023

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Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review

The Journal of pediatrics, 2024-08, Vol.271, p.114060, Article 114060

2024

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Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review

Journal of pediatric gastroenterology and nutrition, 2023-12, Vol.77 (6), p.703-712

2023

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Oesophageal atresia

Orphanet journal of rare diseases, 2007-05, Vol.2 (1), p.24-24, Article 24

Spitz, Lewis

2007

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Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm

Development (Cambridge), 2007-07, Vol.134 (13), p.2521-2531

2007

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3492-3504

2022

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Impact of definitive surgery for esophageal atresia on long‐term outcomes in patients with trisomy 18

American journal of medical genetics. Part A, 2024-11, Vol.194 (11), p.e63792-n/a

2024

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Associated anomalies in cases with esophageal atresia

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2139-2157

2017

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iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stage

Disease models & mechanisms, 2022-11, Vol.15 (11)

2022

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Analysis of eosinophilic esophagitis in children with repaired congenital esophageal atresia

Journal of allergy and clinical immunology, 2019-04, Vol.143 (4), p.1455-1464.e2

2019

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Pharmacogenomics fail to explain proton pump inhibitor refractory esophagitis in pediatric esophageal atresia

Neurogastroenterology and motility, 2022-01, Vol.34 (1), p.e14217-n/a

2022

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Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan

Archives of disease in childhood. Fetal and neonatal edition, 2024-05, Vol.109 (3), p.336-341

2024

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Nature genetics, 2011-10, Vol.43 (10), p.1026-1030

2011

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Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

European journal of medical genetics, 2023-02, Vol.66 (2), p.104692-104692, Article 104692

2023

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Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

Journal of Medical Genetics, 2006-07, Vol.43 (7), p.545-554

Shaw-Smith, C

2006

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Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1351-1363

2020

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Oesophageal atresia

Nature reviews. Disease primers, 2019-04, Vol.5 (1), p.26-26, Article 26

2019

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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3784-3792

2021

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Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4396-4410

2020

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Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Neonatology (Basel, Switzerland), 2017-01, Vol.111 (2), p.140-144

2017

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MicroRNA Levels in Exhaled Breath Condensate of Patients with Esophageal Atresia

Diseases of the esophagus, 2021-03, Vol.34 (3)

2021

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Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology

Genes, 2021-10, Vol.12 (10), p.1595

2021

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Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.122-130

2021

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Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.269-271

2022

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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review

Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review

Oesophageal atresia

Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Impact of definitive surgery for esophageal atresia on long‐term outcomes in patients with trisomy 18

Associated anomalies in cases with esophageal atresia

iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stage

Analysis of eosinophilic esophagitis in children with repaired congenital esophageal atresia

Pharmacogenomics fail to explain proton pump inhibitor refractory esophagitis in pediatric esophageal atresia

Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study

Oesophageal atresia

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

MicroRNA Levels in Exhaled Breath Condensate of Patients with Esophageal Atresia

Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

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