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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in medicine, 2015-05, Vol.17 (5), p.405-424

2015

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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

American journal of human genetics, 2008-10, Vol.83 (4), p.511-519

2008

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Genetics in medicine, 2011-03, Vol.13 (3), p.255-262

2011

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The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Fertility and sterility, 2011-12, Vol.96 (6), p.1424-1430.e6

2011

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708

2014

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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Genome medicine, 2020-05, Vol.12 (1), p.48-48, Article 48

2020

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A Mastoid Mass With Associated Pulmonary Cystic Lesions

JAMA otolaryngology-- head & neck surgery, 2016-03, Vol.142 (3), p.295

2016

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Human gene copy number spectra analysis in congenital heart malformations

Physiological genomics, 2012-05, Vol.44 (9), p.518-541

2012

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Best practices for the interpretation and reporting of clinical whole genome sequencing

Npj genomic medicine, 2022-04, Vol.7 (1), p.27-13, Article 27

2022

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Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Frontiers in genetics, 2022-05, Vol.13, p.866168-866168

2022

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Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing

The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.3-12

2019

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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

American journal of human genetics, 2010-10, Vol.87 (4), p.465-479

2010

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Genomics in clinical practice: lessons from the front lines

Science translational medicine, 2013-07, Vol.5 (194), p.194cm5

2013

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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Molecular genetics and metabolism, 2015-11, Vol.116 (3), p.139-145

2015

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Newborn Screening by Genomic Sequencing: Opportunities and Challenges

International journal of neonatal screening, 2022-07, Vol.8 (3), p.40

2022

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Clinical utility of genomic sequencing: a measurement toolkit

Npj genomic medicine, 2020-12, Vol.5 (1), p.56-56, Article 56

2020

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Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

Clinical journal of the American Society of Nephrology, 2015-06, Vol.10 (6), p.1011-1019

2015

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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Birth defects research. A Clinical and molecular teratology, 2015-07, Vol.103 (7), p.630-640

2015

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Whole exome and whole genome sequencing

Current opinion in pediatrics, 2011-12, Vol.23 (6), p.594-600

2011

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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Fertility and sterility, 2011-04, Vol.95 (5), p.1613-1620.e7

2011

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A timely arrival for genomic medicine

Genetics in medicine, 2011-03, Vol.13 (3), p.195-196

2011

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A Scalp Lesion With Intracranial Extension

JAMA otolaryngology-- head & neck surgery, 2015-03, Vol.141 (3), p.289

2015

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Ethical Issues in DNA Sequencing in the Neonate

Clinics in perinatology, 2014-12, Vol.41 (4), p.993-1000

2014

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Assuring the quality of next-generation sequencing in clinical laboratory practice

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

A Mastoid Mass With Associated Pulmonary Cystic Lesions

Human gene copy number spectra analysis in congenital heart malformations

Best practices for the interpretation and reporting of clinical whole genome sequencing

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Genomics in clinical practice: lessons from the front lines

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Clinical utility of genomic sequencing: a measurement toolkit

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Whole exome and whole genome sequencing

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

A timely arrival for genomic medicine

A Scalp Lesion With Intracranial Extension

Ethical Issues in DNA Sequencing in the Neonate

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