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Somatic mosaicism: implications for disease and transmission genetics

Trends in genetics, 2015-07, Vol.31 (7), p.382-392

2015

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

Current opinion in genetics & development, 2007-06, Vol.17 (3), p.182-192

2007

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Cloud-native distributed genomic pileup operations

Bioinformatics (Oxford, England), 2023-01, Vol.39 (1)

2023

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

American journal of respiratory and critical care medicine, 2019-11, Vol.200 (9), p.1093-1101

2019

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Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

Human mutation, 2021-06, Vol.42 (6), p.694-698

2021

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Deciphering the complexity of simple chromosomal insertions by genome sequencing

Human genetics, 2021-02, Vol.140 (2), p.361-380

2021

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Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

American journal of respiratory cell and molecular biology, 2022-06, Vol.66 (6), p.694-697

2022

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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Human genetics, 2023-06, Vol.142 (6), p.721-733

2023

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Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

American journal of human genetics, 2014-10, Vol.95 (4), p.345-359

2014

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Genome architecture, rearrangements and genomic disorders

Trends in Genetics, 2002-02, Vol.18 (2), p.74-82

2002

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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Human molecular genetics, 2015-07, Vol.24 (14), p.4061-4077

2015

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

Genetics in medicine, 2020-11, Vol.22 (11), p.1768-1776

2020

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An estimation of the prevalence of genomic disorders using chromosomal microarray data

Journal of human genetics, 2018-07, Vol.63 (7), p.795-801

2018

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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

Nucleic acids research, 2015-02, Vol.43 (4), p.2188

2015

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Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges

Prenatal diagnosis, 2022-06, Vol.42 (7), p.811-821

2022

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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Human genomics, 2021-12, Vol.15 (1), p.72-72, Article 72

2021

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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2440-2444

2016

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Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Pediatric and developmental pathology, 2024-05, Vol.27 (3), p.255-259

2024

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

Genome medicine, 2019-07, Vol.11 (1), p.48-48, Article 48

2019

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Molecular Function and Contribution of TBX4 in Development and Disease

American journal of respiratory and critical care medicine, 2023-04, Vol.207 (7), p.855-864

2023

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Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

Pediatric pulmonology, 2016-09, Vol.51 (9), p.921-927

2016

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SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

Nucleus (Austin, Tex.), 2017-03, Vol.8 (2), p.182-187

2017

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Somatic mosaicism: implications for disease and transmission genetics

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

Cloud-native distributed genomic pileup operations

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

Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

Deciphering the complexity of simple chromosomal insertions by genome sequencing

Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

Genome architecture, rearrangements and genomic disorders

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

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

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Structural variation in the human genome and its role in disease

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

Assessing structural variation in a personal genome-towards a human reference diploid genome

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Molecular Function and Contribution of TBX4 in Development and Disease

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

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