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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

artículo científico publicado en 2019

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

artículo científico publicado en 2020

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article published on 22 August 2019

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

artículo científico

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

artículo científico publicado en 2019

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

scientific article published on 29 October 2019

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

scientific article published on 22 July 2019

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

scientific article published on 22 August 2018

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

scientific article published on 16 September 2016

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

artículo científico publicado en 2020

Mechanisms for Complex Chromosomal Insertions.

artículo científico publicado en 2016

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.

artículo científico publicado en 2016

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

artículo científico publicado en 2019

One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?

artículo científico publicado en 2016

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