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Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

American journal of human genetics, 2012-11, Vol.91 (5), p.839-848

2012

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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

American journal of respiratory and critical care medicine, 2023-05, Vol.207 (10), p.1324-1333

2023

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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

American journal of human genetics, 2014-01, Vol.94 (1), p.105-112

2014

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Copy number variation in familial Parkinson disease

PloS one, 2011-08, Vol.6 (8), p.e20988

2011

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Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Genetics in medicine, 2015-10, Vol.17 (10), p.782-788

2015

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Nature communications, 2014-03, Vol.5 (1), p.3416-3416, Article 3416

2014

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R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

Bioinformatics, 2009-10, Vol.25 (19), p.2621-2623

2009

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Performance assessment of copy number microarray platforms using a spike-in experiment

Bioinformatics, 2011-04, Vol.27 (8), p.1052-1060

2011

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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

Molecular syndromology, 2014-12, Vol.5 (6), p.268-275

2014

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Generating Exome Enriched Sequencing Libraries from Formalin‐Fixed, Paraffin‐Embedded Tissue DNA for Next‐Generation Sequencing

Current Protocols in Human Genetics, 2017-01, Vol.92 (1), p.18.10.1-18.10.25

2017

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

American journal of human genetics, 2015-08, Vol.97 (2), p.199-215

2015

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Detectable clonal mosaicism from birth to old age and its relationship to cancer

Nature genetics, 2012-06, Vol.44 (6), p.642-650

2012

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Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis

American journal of human genetics, 2022-10, Vol.109 (10), p.1894-1908

2022

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Whole-Exome Sequencing in Familial Parkinson Disease

JAMA neurology, 2016-01, Vol.73 (1), p.68

2016

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Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

Journal of cystic fibrosis, 2022-05, Vol.21 (3), p.463-470

2022

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A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

Leukemia, 2016-11, Vol.30 (11), p.2242-2245

2016

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The clinical utility of sequencing the entirety of CFTR

Journal of cystic fibrosis, 2024-05

2024

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Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

PloS one, 2015-03, Vol.10 (3), p.e0121104

2015

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm: e0121104

PloS one, 2015-03, Vol.10 (3)

2015

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Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data

BMC proceedings, 2009-12, Vol.3 Suppl 7 (Suppl 7), p.S57-S57, Article S57

2009

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Comparative efficacy and tolerability of antidepressants for major depressive disorder in children and adolescents: a network meta-analysis

The Lancet (British edition), 2016-08, Vol.388 (10047), p.881-890

2016

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Comparative efficacy and acceptability of psychotherapies for depression in children and adolescents: A systematic review and network meta‐analysis

World psychiatry, 2015-06, Vol.14 (2), p.207-222

2015

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Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Copy number variation in familial Parkinson disease

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer

R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips

Performance assessment of copy number microarray platforms using a spike-in experiment

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

Generating Exome Enriched Sequencing Libraries from Formalin‐Fixed, Paraffin‐Embedded Tissue DNA for Next‐Generation Sequencing

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis

Whole-Exome Sequencing in Familial Parkinson Disease

Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

The clinical utility of sequencing the entirety of CFTR

Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

Abstract 688: Multi-stage exome sequencing study of 17,546 aggressive and non-aggressive prostate cancer cases

Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm: e0121104

Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data

Comparative efficacy and tolerability of antidepressants for major depressive disorder in children and adolescents: a network meta-analysis

Comparative efficacy and acceptability of psychotherapies for depression in children and adolescents: A systematic review and network meta‐analysis

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