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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in medicine, 2020-05, Vol.22 (5), p.945-953

2020

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Morphological evolution through multiple cis -regulatory mutations at a single gene

Nature, 2007-08, Vol.448 (7153), p.587-590

2007

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

HGG advances, 2022-07, Vol.3 (3), p.100113-100113, Article 100113

2022

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Dmoesin controls actin-based cell shape and polarity during Drosophila melanogaster oogenesis

Nature cell biology, 2002-10, Vol.4 (10), p.782-789

2002

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Integrins and the actin cytoskeleton

Current opinion in cell biology, 2007-02, Vol.19 (1), p.43-50

2007

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Intensive care medicine, 2019-05, Vol.45 (5), p.627-636

2019

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integrin adhesion complex changes its composition and function during morphogenesis of an epithelium

Journal of cell science, 2009-12, Vol.122 (23), p.4363-4374

2009

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OVO transcription factors function antagonistically in the Drosophila female germline

Development (Cambridge), 2000-02, Vol.127 (4), p.881-892

2000

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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Neurobiology of aging, 2021-10, Vol.106, p.343.e1-343.e8

2021

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Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism

Nature, 2003-08, Vol.424 (6951), p.935-938

2003

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Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report

Journal of neuropathology and experimental neurology, 2015-04, Vol.74 (4), p.288-292

2015

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Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome

Journal of neuropathology and experimental neurology, 2015-04, Vol.74 (4), p.288-292

2015

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Downstream of Identity Genes: Muscle-Type-Specific Regulation of the Fusion Process

Developmental cell, 2010-08, Vol.19 (2), p.317-328

2010

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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1931-1935

2017

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Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1608-1612

2016

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Cell–Matrix Adhesion: The Wech Connection

Current biology, 2008-05, Vol.18 (9), p.R389-R391

2008

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Evolution of larval morphology in flies: get in shape with shavenbaby

Trends in genetics, 2004-07, Vol.20 (7), p.305-313

2004

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Functional polarization of the Escherichia coli chromosome terminus: the dif site acts in chromosome dimer resolution only when located between long stretches of opposite polarity

Molecular microbiology, 2000-04, Vol.36 (1), p.33-43

2000

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Evolution of the Drosophila larval trichome pattern through cis-regulatory mutations at an enhancer of a single gene

Developmental biology, 2008-07, Vol.319 (2), p.495-495

2008

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The Ovo/Shavenbaby transcription factor specifies actin remodelling during epidermal differentiation in Drosophila

Mechanisms of development, 2003-07, Vol.120 (7), p.747-758

2003

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Socio-economic deprivation and cancer incidence in England: Quantifying the role of smoking

PloS one, 2022-09, Vol.17 (9), p.e0272202-e0272202

2022

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Adherence to ivermectin is more associated with perceptions of community directed treatment with ivermectin organization than with onchocerciasis beliefs

PLoS neglected tropical diseases, 2017-08, Vol.11 (8), p.e0005849-e0005849

2017

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Morphological evolution through multiple cis -regulatory mutations at a single gene

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Dmoesin controls actin-based cell shape and polarity during Drosophila melanogaster oogenesis

Integrins and the actin cytoskeleton

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

integrin adhesion complex changes its composition and function during morphogenesis of an epithelium

OVO transcription factors function antagonistically in the Drosophila female germline

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome: A First Report

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome

Downstream of Identity Genes: Muscle-Type-Specific Regulation of the Fusion Process

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation

Cell–Matrix Adhesion: The Wech Connection

Evolution of larval morphology in flies: get in shape with shavenbaby

Functional polarization of the Escherichia coli chromosome terminus: the dif site acts in chromosome dimer resolution only when located between long stretches of opposite polarity

Evolution of the Drosophila larval trichome pattern through cis-regulatory mutations at an enhancer of a single gene

The Ovo/Shavenbaby transcription factor specifies actin remodelling during epidermal differentiation in Drosophila

Socio-economic deprivation and cancer incidence in England: Quantifying the role of smoking

Adherence to ivermectin is more associated with perceptions of community directed treatment with ivermectin organization than with onchocerciasis beliefs

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinﬂammatory syndrome

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