Hypothesis-generating clinical genomics research and predictive medicine

por Biesecker, Leslie
Publicado 2012

The Greig cephalopolysyndactyly syndrome

por Biesecker, Leslie G
Publicado 2008

An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project

por Biesecker, Leslie G
Publicado 2010

Hypothesis-generating research and predictive medicine

por Biesecker, Leslie G.
Publicado 2013

Genomic screening for monogenic forms of diabetes

por Biesecker, Leslie G.
Publicado 2018

Mosaic Disorders and the Taxonomy of Human Disease

por Biesecker, Leslie G.
Publicado 2017

Genomic screening and genomic diagnostic testing—two very different kettles of fish

por Biesecker, Leslie G.
Publicado 2019

Mosaicism and the taxonomy of human disease

por Biesecker, Leslie G.
Publicado 2021

Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data: McArdle prevalence by NGS data

por De Castro, Mauricio, Johnston, Jennifer, Biesecker, Leslie
Publicado 2015

SomatoSim: precision simulation of somatic single nucleotide variants

por Hawari, Marwan A., Hong, Celine S., Biesecker, Leslie G.
Publicado 2021

A commentary on Actionable secondary findings in the 73 ACMG-recommended genes in 1,559 Thai exomes

por Johnston, Jennifer J., Yoo, Seeley, Biesecker, Leslie G.
Publicado 2022

Exome sequencing: the expert view

por Biesecker, Leslie G, Shianna, Kevin V, Mullikin, Jim C
Publicado 2011

Progression of skin lesions in Warburg-Cinotti syndrome

por Ours, Christopher A., Biesecker, Leslie G., Darling, Thomas N.
Publicado 2021

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

por Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
Publicado 2012

Assessing the reproducibility of exome copy number variations predictions

por Hong, Celine S., Singh, Larry N., Mullikin, James C., Biesecker, Leslie G.
Publicado 2016

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

por Bardakjian, Tanya M, Schneider, Adele S, Ng, David, Johnston, Jennifer J, Biesecker, Leslie G
Publicado 2009

Acne following Blaschko's lines in Proteus syndrome

por Cartron, Alexander M., Pithadia, Deeti J., Buser, Anna, Biesecker, Leslie G., Darling, Thomas N.
Publicado 2020

Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome

por Ours, Christopher A., Hodges, Mia B., Oden, Neal, Sapp, Julie C., Biesecker, Leslie G.
Publicado 2022

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

por Ulucan, Hakan, Gül, Davut, Sapp, Julie C, Cockerham, John, Johnston, Jennifer J, Biesecker, Leslie G
Publicado 2008

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

por Hamlington, Barbara, Ivey, Lauren E., Brenna, Ethan, Biesecker, Leslie G., Biesecker, Barbara B., Sapp, Julie C.
Publicado 2015