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Noninvasive whole-genome sequencing of a human fetus

Science translational medicine, 2012-06, Vol.4 (137), p.137ra76

2012

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The Impact of Inclusion: Improving Medical Student Confidence in Caring for Adults with Intellectual Disabilities through an Interactive, Narrative-Based Session

Journal of intellectual & developmental disability, 2023-07, Vol.48 (3), p.340-344

2023

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The effectiveness of global protected areas for climate change mitigation

Nature communications, 2023-06, Vol.14 (1), p.2908-2908, Article 2908

2023

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Exome sequencing as a tool for Mendelian disease gene discovery

Nature reviews. Genetics, 2011-11, Vol.12 (11), p.745-755

2011

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Candidate-gene approaches for studying complex genetic traits: practical considerations

Nature reviews. Genetics, 2002-05, Vol.3 (5), p.391-397

2002

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Neuropsychological outcomes following supratotal resection for high‐grade glioma: a review

Journal of neuro-oncology, 2021-05, Vol.152 (3), p.429-437

2021

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Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study

Journal of medical Internet research, 2022-12, Vol.24 (12), p.e42084-e42084

2022

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Surgical strategies for intracranial meningioma in the molecular era

Journal of neuro-oncology, 2023-04, Vol.162 (2), p.253-265

2023

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Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing

American journal of human genetics, 2014-07, Vol.95 (1), p.77-84

2014

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Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy

JAMA pediatrics, 2018-02, Vol.172 (2), p.188

2018

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

American journal of human genetics, 2014-08, Vol.95 (2), p.183-193

2014

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Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.2916-2924

2011

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Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

Nature genetics, 2008-08, Vol.40 (8), p.963-970

2008

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British Association of Dermatologists' guidelines for the management of Stevens–Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018

British journal of dermatology (1951), 2019-07, Vol.181 (1), p.37-54

2019

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Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

Frontiers in genetics, 2022-08, Vol.13, p.949422-949422

2022

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Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

PLoS genetics, 2015-06, Vol.11 (6), p.e1005273-e1005273

2015

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Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1064-1072

2013

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Human molecular genetics, 2014-04, Vol.23 (8), p.1957-1963

2014

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Free satellite data key to conservation

Science (American Association for the Advancement of Science), 2018-07, Vol.361 (6398), p.139-140

2018

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My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

Genetics in medicine, 2017-04, Vol.19 (4), p.467-475

2017

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Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2153-2160

2014

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Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease

The American heart journal, 2007-12, Vol.154 (6), p.1035-1042

2007

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

American journal of human genetics, 2013-10, Vol.93 (4), p.631-640

2013

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Ventilator Triage Policies During the COVID-19 Pandemic at U.S. Hospitals Associated With Members of the Association of Bioethics Program Directors

Annals of internal medicine, 2020-08, Vol.173 (3), p.188-194

2020

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How are students learning to care for people with disabilities?: exploring the curriculum design of a sample of disability electives offered by US health professions schools

Disability and rehabilitation, 2024-08, Vol.46 (16), p.3749-3759

2024

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Noninvasive whole-genome sequencing of a human fetus

The Impact of Inclusion: Improving Medical Student Confidence in Caring for Adults with Intellectual Disabilities through an Interactive, Narrative-Based Session

The effectiveness of global protected areas for climate change mitigation

Exome sequencing as a tool for Mendelian disease gene discovery

Candidate-gene approaches for studying complex genetic traits: practical considerations

Neuropsychological outcomes following supratotal resection for high‐grade glioma: a review

Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study

Surgical strategies for intracranial meningioma in the molecular era

Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing

Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

British Association of Dermatologists' guidelines for the management of Stevens–Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Free satellite data key to conservation

My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing

Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Ventilator Triage Policies During the COVID-19 Pandemic at U.S. Hospitals Associated With Members of the Association of Bioethics Program Directors

How are students learning to care for people with disabilities?: exploring the curriculum design of a sample of disability electives offered by US health professions schools

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