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

by Leslie G. Biesecker
Published 2019-11-01

Genomic screening for monogenic forms of diabetes

by Leslie G. Biesecker
Published 2018-02-01

SomatoSim: precision simulation of somatic single nucleotide variants

by Marwan A. Hawari, Celine S. Hong, Leslie G. Biesecker
Published 2021-03-01

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

by Barbara Hamlington, Lauren E Ivey, Ethan Brenna, Leslie G Biesecker, Barbara B Biesecker, Julie C Sapp
Published 2015-01-01

Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability.

by Ekaterina Posokhova, David Ng, Aaisha Opel, Ikuo Masuho, Andrew Tinker, Leslie G Biesecker, Kevin Wickman, Kirill A Martemyanov
Published 2013-01-01

Cardiothoracic imaging findings of Proteus syndrome

by S. Mojdeh Mirmomen, Andrew E. Arai, Evrim B. Turkbey, Andrew J. Bradley, Julie C. Sapp, Leslie G. Biesecker, Arlene Sirajuddin
Published 2021-03-01

Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.

by Katie L Lewis, Paul K J Han, Gillian W Hooker, William M P Klein, Leslie G Biesecker, Barbara B Biesecker
Published 2015-01-01

Acne following Blaschko's lines in Proteus syndrome

by Alexander M. Cartron, BS, Deeti J. Pithadia, MD, Anna Buser, BS, Leslie G. Biesecker, MD, Thomas N. Darling, MD, PhD
Published 2020-10-01

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.

by Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Published 2017-01-01

Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency.

by Stacie K Loftus, Jennifer L Cannons, Arturo Incao, Evgenia Pak, Amy Chen, Patricia M Zerfas, Mark A Bryant, Leslie G Biesecker, Pamela L Schwartzberg, William J Pavan
Published 2005-09-01

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

by Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker
Published 2021-04-01

Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation

by Guibin Chen, Hui Jin, Zhen Yu, Yangtengyu Liu, Zhongwen Li, Keron Navarengom, Robin Schwartzbeck, Natalia Dmitrieva, Cornelia Cudrici, Elisa A. Ferrante, Leslie G. Biesecker, Dan Yang, Manfred Boehm
Published 2019-07-01

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

by Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti, Blanche P Alter, Leslie G Biesecker, Sharon A Savage
Published 2014-01-01

TREML4 Promotes Inflammatory Programs in Human and Murine Macrophages and Alters Atherosclerosis Lesion Composition in the Apolipoprotein E Deficient Mouse

by Marieli Gonzalez-Cotto, Liang Guo, Megan Karwan, Shurjo K. Sen, Jennifer Barb, Carlos J. Collado, Fathi Elloumi, Erika M. Palmieri, Kimberly Boelte, Frank D. Kolodgie, Aloke V. Finn, Leslie G. Biesecker, Daniel W. McVicar
Published 2020-03-01

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

by Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, Jennifer J. Johnston, Elyse Ryan, Keith Rafferty, Arupa Ganguly, Leslie G. Biesecker
Published 2020-10-01

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

by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Published 2019-12-01

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

by Jung Kim, Wen Luo, Mingyi Wang, Talia Wegman-Ostrosky, Megan N. Frone, Jennifer J. Johnston, Michael L. Nickerson, Melissa Rotunno, Shengchao A. Li, Maria I. Achatz, Seth A. Brodie, Michael Dean, Kelvin C. de Andrade, Fernanda P. Fortes, Matthew Gianferante, Payal Khincha, Mary L. McMaster, Lisa J. McReynolds, Alexander Pemov, Maisa Pinheiro, Karina M. Santiago, Blanche P. Alter, Neil E. Caporaso, Shahinaz M. Gadalla, Lynn R. Goldin, Mark H. Greene, Jennifer Loud, Xiaohong R. Yang, Neal D. Freedman, Susan M. Gapstur, Mia M. Gaudet, Donato Calista, Paola Ghiorzo, Maria Concetta Fargnoli, Eduardo Nagore, Ketty Peris, Susana Puig, Maria Teresa Landi, Belynda Hicks, Bin Zhu, Jia Liu, Joshua N. Sampson, Stephen J. Chanock, Lisa J. Mirabello, Lindsay M. Morton, Leslie G. Biesecker, Margaret A. Tucker, Sharon A. Savage, Alisa M. Goldstein, Douglas R. Stewart
Published 2018-12-01