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Structural variation in the human genome and its role in disease

Annual review of medicine, 2010-01, Vol.61 (1), p.437-455

2010

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Long Non-Coding RNA FENDRR : Gene Structure, Expression, and Biological Relevance

Genes, 2021-01, Vol.12 (2), p.177

2021

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Revised time estimation of the ancestral human chromosome 2 fusion

BMC genomics, 2022-08, Vol.23 (S6), p.1-616, Article 616

2022

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A Small De Novo CNV Deletion of the Paternal Copy of FOXF1 , Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region

Non-coding RNA, 2023-10, Vol.9 (5), p.61

2023

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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

Genome Biology, 2023-09, Vol.24 (1), p.1-205, Article 205

2023

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Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

Respiratory research, 2021-01, Vol.22 (1), p.26-26, Article 26

2021

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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

Respiratory research, 2021-07, Vol.22 (1), p.212-212, Article 212

2021

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Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

Clinical epigenetics, 2023-10, Vol.15 (1), p.169-169, Article 169

2023

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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

BMC medical genomics, 2020-03, Vol.13 (1), p.34-8, Article 34

2020

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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

American journal of human genetics, 2014-08, Vol.95 (2), p.173-182

2014

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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

Mammalian genome, 2017-08, Vol.28 (7-8), p.275-282

2017

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Microdeletion and microduplication syndromes

Methods in molecular biology (Clifton, N.J.), 2012-01, Vol.838, p.29

2012

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Mechanisms for Complex Chromosomal Insertions

PLoS genetics, 2016-11, Vol.12 (11), p.e1006446

2016

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The state of refraction in prematurely born children with retinopathy depending on treatment methods used (diode laser and anti-VEGF) and selected demographic characteristics – observations

Pediatria polska, 2023-06, Vol.98 (2), p.108-115

2023

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Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

Human mutation, 2013-01, Vol.34 (1), p.210-220

2013

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Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

Genes & diseases, 2022-11, Vol.9 (6), p.1423-1426

2022

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SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

Human molecular genetics, 2007-05, Vol.16 (10), p.1143-1156

2007

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Genome research, 2011-01, Vol.21 (1), p.33

2011

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Human genetics, 2017-04, Vol.136 (4), p.377-386

2017

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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

PLoS genetics, 2013-09, Vol.9 (9), p.e1003797-e1003797

2013

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Genetics in medicine, 2011-05, Vol.13 (5), p.447-452

2011

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High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2062-n/a

2022

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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-10, Vol.159B (7), p.760-771

2012

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Structural variation in the human genome and its role in disease

Long Non-Coding RNA FENDRR : Gene Structure, Expression, and Biological Relevance

Revised time estimation of the ancestral human chromosome 2 fusion

A Small De Novo CNV Deletion of the Paternal Copy of FOXF1 , Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region

PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

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

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

Microdeletion and microduplication syndromes

Mechanisms for Complex Chromosomal Insertions

The state of refraction in prematurely born children with retinopathy depending on treatment methods used (diode laser and anti-VEGF) and selected demographic characteristics – observations

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

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