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Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Annals of cardiothoracic surgery, 2017-11, Vol.6 (6), p.582-594

2017

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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

American journal of human genetics, 2015-11, Vol.97 (5), p.761-768

2015

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Human molecular genetics, 2013-07, Vol.22 (13), p.2590-2602

2013

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

American journal of human genetics, 2012-02, Vol.90 (2), p.356-362

2012

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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

American journal of human genetics, 2015-09, Vol.97 (3), p.475-482

2015

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Hearing Disability Measured by the Speech, Spatial, and Qualities of Hearing Scale in Clinically Normal-Hearing and Hearing-Impaired Middle-Aged Persons, and Disability Screening by Means of a Reduced SSQ (the SSQ5)

Ear and hearing, 2012-09, Vol.33 (5), p.615-616

2012

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Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

Human mutation, 2016-06, Vol.37 (6), p.524-531

2016

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Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Cell cycle (Georgetown, Tex.), 2011-06, Vol.10 (11), p.1810-1820

2011

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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.605-615

2018

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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Nature genetics, 2019-01, Vol.51 (1), p.42-50

2019

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

American journal of human genetics, 2016-07, Vol.99 (1), p.174-187

2016

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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

The Journal of clinical investigation, 2017-09, Vol.127 (9), p.3543-3556

2017

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Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Human mutation, 2015-08, Vol.36 (8), p.808-814

2015

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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Journal of medical genetics, 2024-01, Vol.61 (4), p.363

2024

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Genetic Studies on Noise-Induced Hearing Loss: A Review

Ear and hearing, 2009-04, Vol.30 (2), p.151-159

2009

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The influence of genetic variation in oxidative stress genes on human noise susceptibility

Hearing research, 2005-04, Vol.202 (1-2), p.87-96

2005

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A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

The New England journal of medicine, 2014-01, Vol.370 (3), p.245-253

2014

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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Journal of medical genetics, 2019-04, Vol.56 (4), p.220

2019

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Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Bone (New York, N.Y.), 2019-04, Vol.121, p.191-195

2019

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Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Genetics in medicine, 2017-04, Vol.19 (4), p.386-395

2017

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Arterial tortuosity syndrome: 40 new families and literature review

Genetics in medicine, 2018-10, Vol.20 (10), p.1236-1245

2018

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Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Hearing Disability Measured by the Speech, Spatial, and Qualities of Hearing Scale in Clinically Normal-Hearing and Hearing-Impaired Middle-Aged Persons, and Disability Screening by Means of a Reduced SSQ (the SSQ5)

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Genetic Studies on Noise-Induced Hearing Loss: A Review

The influence of genetic variation in oxidative stress genes on human noise susceptibility

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Arterial tortuosity syndrome: 40 new families and literature review

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