Leslie G. Biesecker

发表

Accuracy and precision in bayesian analysis. Commentary

Leslie G. Biesecker, 2005 .

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Steven E. Brenner, Xi Luo, Lea M. Starita, 2019, Genome Medicine.

Inverse inbreeding coefficient problems with an application to linkage analysis of recessive diseases in inbred populations

Alejandro A. Schäffer, Richa Agarwala, Leslie G. Biesecker, 2000, SODA '99.

Approximation Algorithms for a Genetic Diagnostics Problem

Alejandro A. Schäffer, S. Rao Kosaraju, Leslie G. Biesecker, 1998, J. Comput. Biol..

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

Eric D. Green, James C. Mullikin, Leslie G. Biesecker, 2012, Bioinform..

Approximation Algorithms for a Genetic Diagnostics Problem

Alejandro A. Schäffer, S. Rao Kosaraju, Leslie G. Biesecker, 1997, WADS.

Integrating pharmacogenetic information and clinical decision support into the electronic health record

Jon W. McKeeby, David Herion, Leslie G. Biesecker, 2014, J. Am. Medical Informatics Assoc..

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

Celine S. Hong, Leslie G. Biesecker, Jeffrey N. Dudley, 2021, BMC Bioinformatics.

SomatoSim: precision simulation of somatic single nucleotide variants

Celine S. Hong, Leslie G. Biesecker, Marwan A. Hawari, 2021, BMC Bioinformatics.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, 2012, Genetics in Medicine.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Linzhao Cheng, Xuan Yuan, Leslie G. Biesecker, 2012, American journal of human genetics.

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

Leslie G. Biesecker, Marjan Huizing, William L. Nyhan, 2011, Nature genetics.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Assessing the reproducibility of exome copy number variations predictions

Celine S. Hong, Larry N. Singh, James C. Mullikin, 2016, Genome Medicine.

A genomic view of mosaicism and human disease

Leslie G. Biesecker, Nancy B. Spinner, N. Spinner, 2013, Nature Reviews Genetics.

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

Leslie G. Biesecker, L. Biesecker, 2012, Genetics in Medicine.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Leslie G. Biesecker, Douglas R. Stewart, Meredith Yeager, 2014, PloS one.

Mutant deoxynucleotide carrier is associated with congenital microcephaly

Alejandro A. Schäffer, Richa Agarwala, Izabela Makalowska, 2002, Nature Genetics.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Monte Westerfield, Wendy S. Rubinstein, Gregory M. Cooper, 2017, Cell.