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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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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

American journal of human genetics, 2015-08, Vol.97 (2), p.343-352

2015

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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

American journal of human genetics, 2011-06, Vol.88 (6), p.788-795

2011

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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

American journal of human genetics, 2016-09, Vol.99 (3), p.728-734

2016

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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

American journal of human genetics, 2009-07, Vol.85 (1), p.97-105

2009

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A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification

American journal of human genetics, 2008-02, Vol.82 (2), p.352-365

2008

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Genomewide Comparison of DNA Sequences between Humans and Chimpanzees

American journal of human genetics, 2002-06, Vol.70 (6), p.1490-1497

2002

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KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

American journal of human genetics, 2002-09, Vol.71 (3), p.663-668

2002

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Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat

American journal of human genetics, 1998-06, Vol.62 (6), p.1408-1415

1998

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Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk

American journal of human genetics, 2003-04, Vol.72 (4), p.975-983

2003

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Somatic Mosaicism in Hemophilia A: A Fairly Common Event

American journal of human genetics, 2001-07, Vol.69 (1), p.75-87

2001

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Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer Treated with Potentially Mutagenic Therapies

American journal of human genetics, 2002-04, Vol.70 (4), p.1069-1071

2002

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Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B

American journal of human genetics, 1999-12, Vol.65 (6), p.1580-1587

1999

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The Frequency of Heteroplasmy in the HVII Region of mtDNA Differs across Tissue Types and Increases with Age

American journal of human genetics, 2000-04, Vol.66 (4), p.1384-1397

2000

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Mutation Rates in Humans. I. Overall and Sex-Specific Rates Obtained from a Population Study of Hemophilia B

American journal of human genetics, 1999-12, Vol.65 (6), p.1572-1579

1999

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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLIA3) : genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families

American journal of human genetics, 1995-02, Vol.56 (2), p.374-380

1995

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The fragile X premutation in carriers and its effect on mutation size in offspring

American journal of human genetics, 1995-05, Vol.56 (5), p.1147-1155

1995

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Examination of Factors Associated with Instability of the FMR1 CGG Repeat

American journal of human genetics, 1998-09, Vol.63 (3), p.776-785

1998

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Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)

American journal of human genetics, 1993-11, Vol.53 (5), p.1016-1023

1993

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An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency

American journal of human genetics, 1998-08, Vol.63 (2), p.569-576

1998

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New Solutions to an Ancient Riddle: Defining the Differences between Adam and Eve

American journal of human genetics, 1999-10, Vol.65 (4), p.933-942

1999

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A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters

American journal of human genetics, 2000-03, Vol.66 (3), p.1145-1148

2000

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Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again

American journal of human genetics, 1995-03, Vol.56 (3), p.553-557

Dahl, H H

1995

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Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease

American journal of human genetics, 1999-08, Vol.65 (2), p.360-369

1999

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Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

American journal of human genetics, 1962-06, Vol.14 (2), p.159-169

1962

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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees

KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat

Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk

Somatic Mosaicism in Hemophilia A: A Fairly Common Event

Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer Treated with Potentially Mutagenic Therapies

Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B

The Frequency of Heteroplasmy in the HVII Region of mtDNA Differs across Tissue Types and Increases with Age

Mutation Rates in Humans. I. Overall and Sex-Specific Rates Obtained from a Population Study of Hemophilia B

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLIA3) : genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families

The fragile X premutation in carriers and its effect on mutation size in offspring

Examination of Factors Associated with Instability of the FMR1 CGG Repeat

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)

An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency

New Solutions to an Ancient Riddle: Defining the Differences between Adam and Eve

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease

Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

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