2016 - Member of the National Academy of Medicine (NAM)
Member of the Association of American Physicians
Leslie G. Biesecker spends much of his time researching Genetics, Exome sequencing, Exome, Genomics and Mutation. His Exome sequencing study combines topics from a wide range of disciplines, such as Personal genomics, CLOVES syndrome and Mutation. Leslie G. Biesecker focuses mostly in the field of Exome, narrowing it down to matters related to Genetic testing and, in some cases, 17q21.31 microdeletion syndrome, Down syndrome, Comparative genomic hybridization, Chromosomal rearrangement and Autism.
His Genomics research is multidisciplinary, incorporating perspectives in Human genome, MEDLINE, Bioinformatics and Medical education. His work deals with themes such as Penetrance, Evidence-based practice, Disease and DNA sequencing, which intersect with Bioinformatics. His Mutation research integrates issues from Phenotype, Molecular biology, Cancer research and X chromosome.
His main research concerns Genetics, Exome sequencing, Exome, Proteus syndrome and Internal medicine. His biological study spans a wide range of topics, including MEDLINE, Genome, Massive parallel sequencing, Genomics and Computational biology. His Genomics research is multidisciplinary, incorporating perspectives in Genetic testing and Bioinformatics.
The various areas that he examines in his Bioinformatics study include Disease and DNA sequencing. His research in Computational biology intersects with topics in Human genome and Medical genetics. His Proteus syndrome research is multidisciplinary, incorporating elements of AKT1 and Connective tissue nevus.
His scientific interests lie mostly in Computational biology, Proteus syndrome, Exome sequencing, Genomics and Genetics. His Computational biology research incorporates themes from Genome, Personalized medicine, Mendelian disorders and Disease. His Proteus syndrome research incorporates elements of AKT1 and Connective tissue nevus.
The Genomics study combines topics in areas such as Translational research, Cognition, Human genetics and Medical genetics. His work in the fields of Genetics, such as Phenotype and Gene, intersects with other areas such as Inheritance. As part of one scientific family, Leslie G. Biesecker deals mainly with the area of Bioinformatics, narrowing it down to issues related to the Exome, and often Return of results.
Leslie G. Biesecker mainly focuses on Computational biology, Proteus syndrome, Exome sequencing, Exome and Human genetics. His Computational biology research includes elements of Mendelian disorders and Mechanism. His study in Proteus syndrome is interdisciplinary in nature, drawing from both AKT1, Thrombosis, Connective tissue nevus and Overgrowth syndrome.
His studies deal with areas such as CLARITY, Data science and Rare disease as well as Exome sequencing. His Exome study combines topics from a wide range of disciplines, such as Autism, PDGFRB, Sequence analysis, Etiology and Epilepsy. The concepts of his Human genetics study are interwoven with issues in Genomic screening, Context and Genomics.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker.
American Journal of Human Genetics (2010)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia.
Genetics in Medicine (2013)
Guidelines for investigating causality of sequence variants in human disease
D G MacArthur;T A Manolio;D P Dimmock;H L Rehm.
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Marjorie J. Lindhurst;Julie C. Sapp;Jamie K. Teer;Jennifer J. Johnston.
The New England Journal of Medicine (2011)
Diagnostic Clinical Genome and Exome Sequencing
Leslie G. Biesecker;Robert C. Green.
The New England Journal of Medicine (2014)
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
Seongman Kang;John M. Graham;Ann Haskins Olney;Leslie G. Biesecker.
Nature Genetics (1997)
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
Leslie G. Biesecker;Rudolf Happle;John B. Mulliken;Rosanna Weksberg.
American Journal of Medical Genetics (1999)
A genomic view of mosaicism and human disease
Leslie G. Biesecker;Nancy B. Spinner.
Nature Reviews Genetics (2013)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin.
American Journal of Human Genetics (2016)
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
Jie Liu;Deborah Litman;Marjorie J. Rosenberg;Shuhua Yu.
Journal of Clinical Investigation (2000)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: