Leslie G Biesecker

发表

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Yaping Yang, Katrina A B Goddard, Kathryn M Porter, 2018, Molecular genetics & genomic medicine.

A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing

Steven Joffe, Paul K J Han, Leslie G Biesecker, 2017, Genetics in Medicine.

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

Sara Chandros Hull, David Goldman, Leslie G Biesecker, 2016, American journal of human genetics.

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

Leslie G Biesecker, Kimberly A Kaphingst, Flavia M Facio, 2012, European Journal of Human Genetics.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

Jamie K Teer, Leslie G Biesecker, Nancy F. Hansen, 2010, Genome research.

Phenotype matters

Leslie G Biesecker, L. Biesecker, 2004, Nature Genetics.

Integrating with integrity

Leslie G Biesecker, Ed Duling, 1997, Nature Genetics.

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

Jamie K Teer, Leslie G Biesecker, James C Mullikin, 2013, BMC Genomics.

Characterizing genetic variants for clinical action

Kensaku Kawamoto, Nazneen Rahman, Elaine Lyon, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

Leslie G Biesecker, Flavia M Facio, Johanna Loewenstein, 2011, European Journal of Human Genetics.

Databases of genomic variation and phenotypes: existing resources and future needs.

Leslie G Biesecker, L. Biesecker, J. Johnston, 2013, Human molecular genetics.

Validation of My Family Health Portrait for six common heritable conditions

Leslie G Biesecker, Kandamurugu Manickam, Neal Oden, 2010, Genetics in Medicine.

Next‐generation sequencing demands next‐generation phenotyping

Leslie G Biesecker, R. Hennekam, L. Biesecker, 2012, Human mutation.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Jamie K Teer, Leslie G Biesecker, Nancy F. Hansen, 2010, American journal of human genetics.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Sheri D Schully, Katrina A B Goddard, Alan F Scott, 2016, Genetics in Medicine.

Research participants’ attitudes towards the confidentiality of genomic sequence information

Leslie G Biesecker, Katie Lewis, Flavia M Facio, 2013, European Journal of Human Genetics.

The Greig cephalopolysyndactyly syndrome

Leslie G Biesecker, L. Biesecker, 2008, Orphanet journal of rare diseases.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Jamie K Teer, Shlomo Wientroub, Leslie G Biesecker, 2011, The New England journal of medicine.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Dian Donnai, Leslie G Biesecker, Dan Hanson, 2011, American journal of human genetics.

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Heidi L Rehm, Leslie G Biesecker, H. Rehm, 2018, Human mutation.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Bohdan Waszkowycz, Leslie G Biesecker, Natalie Stephenson, 2013, Arthritis and rheumatism.

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Edwin M Stone, Leslie G Biesecker, Val C Sheffield, 2005, American journal of human genetics.

DNA Identifications After the 9/11 World Trade Center Attack

Bruce Budowle, Joan E Bailey-Wilson, Leslie G Biesecker, 2005, Science.

Diagnostic clinical genome and exome sequencing.

Leslie G Biesecker, Robert C Green, R. Green, 2014, The New England journal of medicine.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Heidi L Rehm, Jonathan S Berg, Leslie G Biesecker, 2017, Genetics in Medicine.

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions

Leslie G Biesecker, John C Carey, R. Hennekam, 2012, Human mutation.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Leslie G Biesecker, L. Biesecker, S. Harrison, 2018, Genetics in Medicine.

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

Heidi L Rehm, Leslie G Biesecker, Robert L Nussbaum, 2018, JAMA.