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Single-Molecule Mechanics of R403Q Cardiac Myosin Isolated From the Mouse Model of Familial Hypertrophic Cardiomyopathy

Circulation research, 2000-04, Vol.86 (7), p.737-744

2000

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Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5

Science (American Association for the Advancement of Science), 1998-07, Vol.281 (5373), p.108-111

1998

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Nature genetics, 1997-07, Vol.16 (3), p.311-315

1997

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Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy

The New England journal of medicine, 1998-04, Vol.338 (18), p.1248-1257

1998

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A Mouse Model of Familial Hypertrophic Cardiomyopathy

Science (American Association for the Advancement of Science), 1996-05, Vol.272 (5262), p.731-734

1996

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A human MSX1 homeodomain missense mutation causes selective tooth agenesis

Nature genetics, 1996-08, Vol.13 (4), p.417-421

1996

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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome

American journal of human genetics, 1999-06, Vol.64 (6), p.1550-1562

1999

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Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Nature genetics, 1995-12, Vol.11 (4), p.434-437

1995

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A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Nature genetics, 1995-12, Vol.11 (4), p.389-394

1995

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Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Nature genetics, 1998-11, Vol.20 (3), p.299-303

1998

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Alcohol consumption raises HDL cholesterol levels by increasing the transport rate of apolipoproteins A-I and A-II

Circulation (New York, N.Y.), 2000-11, Vol.102 (19), p.2347-2352

2000

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Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Nature genetics, 1997-01, Vol.15 (1), p.30-35

1997

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Regulation of Chamber-Specific Gene Expression in the Developing Heart by Irx4

Science (American Association for the Advancement of Science), 1999-02, Vol.283 (5405), p.1161-1164

1999

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Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q

American journal of human genetics, 2000-04, Vol.66 (4), p.1443-1448

2000

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ORE identifies extreme expression effects enriched for rare variants

Bioinformatics, 2019-10, Vol.35 (20), p.3906-3912

2019

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Cardiomyopathy in Irx4-Deficient Mice Is Preceded by Abnormal Ventricular Gene Expression

Molecular and Cellular Biology, 2001-03, Vol.21 (5), p.1730-1736

2001

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Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

The New England journal of medicine, 1999-12, Vol.341 (23), p.1715-1724

1999

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Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases : Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome : A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, american heart association

Circulation (New York, N.Y.), 1998-10, Vol.98 (14), p.1460-1471

1998

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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

The New England journal of medicine, 2000-12, Vol.343 (23), p.1688-1696

2000

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Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia

American journal of human genetics, 1997-07, Vol.61 (1), p.68-79

1997

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A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Cell, 2001-09, Vol.106 (6), p.709-721

2001

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beta-Arrestin1 Knockout Mice Appear Normal but Demonstrate Altered Cardiac Responses to beta-Adrenergic Stimulation

Circulation research, 1997-12, Vol.81 (6), p.1021-1026

1997

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The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)

The New England journal of medicine, 1994-03, Vol.330 (13), p.885-891

1994

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Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis

Muscle & nerve, 2003-07, Vol.28 (1), p.118-122

2003

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A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Cell, 1990-09, Vol.62 (5), p.999-1006

1990

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Single-Molecule Mechanics of R403Q Cardiac Myosin Isolated From the Mouse Model of Familial Hypertrophic Cardiomyopathy

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy

A Mouse Model of Familial Hypertrophic Cardiomyopathy

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Alcohol consumption raises HDL cholesterol levels by increasing the transport rate of apolipoproteins A-I and A-II

Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Regulation of Chamber-Specific Gene Expression in the Developing Heart by Irx4

Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q

ORE identifies extreme expression effects enriched for rare variants

Cardiomyopathy in Irx4-Deficient Mice Is Preceded by Abnormal Ventricular Gene Expression

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

beta-Arrestin1 Knockout Mice Appear Normal but Demonstrate Altered Cardiac Responses to beta-Adrenergic Stimulation

The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)

Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

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