Barbara B Biesecker (Barbara Biesecker, Laura K Koehly, Leslie Biesecker, Leslie G Biesecker)

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 35

Top Topics

Irritable Bowel Syndrome

Dna Methylation

High Throughput Sequencing

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Genetics in medicine : official journal of the American College of Medical Genetics

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG 32 (5) (2024)
Sophie Allen, Alice Garrett, Lara A Muffley, Shawn Fayer, Julia Foreman, David J Adams, Matthew E Hurles, Alan F Rubin, Frederick P Roth, Lea M Starita, Barbara B Biesecker, Clare Turnbull
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023. European journal of human genetics : EJHG (2024)
Carsten G Bönnemann, Kalpathy S Krishnamoorthy, Jennifer J Johnston, Mary M Lee, Darren J Fowler, Barbara B Biesecker, Lewis B Holmes
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma. American journal of medical genetics. Part A (2023)
Henoke K Shiferaw, Celine S Hong, David Cooper, Jennifer J Johnston, null null, Barbara B Biesecker
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification. Human molecular genetics (2023)
A Rouf Banday, Megan L Stanifer, Oscar Florez-Vargas, Olusegun O Onabajo, Brenen W Papenberg, Muhammad Atif Zahoor, Lisa Mirabello, Timothy J Ring, Chia-Han Lee, Paul S Albert, Evangelos Andreakos, Evgeny Arons, Gregory S Barsh, Barbara B Biesecker, David L Boyle, Mark S Brahier, Andrea Burnett-Hartman, Mary N Carrington, Euijin Chang, Pyeong Gyun Choe, Rex L Chisholm, Leandro Machado Colli, Cliffton L Dalgard, Carolynn M Dude, Jeff Edberg, Nathan Erdmann, Heather Spencer Feigelson, Benedito Antônio Lopes da Fonseca, Gary S Firestein, Adam J Gehring, Cuncai Guo, Michelle Ho, Steven Holland, Amy A Hutchinson, Hogune Im, Les'Shon Irby, Michael G Ison, Naima T Joseph, Hong Bin Kim, Robert J Kreitman, Bruce R Korf, Steven M Lipkin, Siham M Mahgoub, Iman Mohammed, Guilherme L Paschoalini, Jennifer Allen Pacheco, Michael J Peluso, Daniel James Rader, David T Redden, Marylyn DeRiggi Ritchie, Brooke Rosenblum, Margaret Elizabeth Ross, Hanaisa P Sant Anna, Sharon A Savage, Sudha Sharma, Eleni Siouti, Alicia K Smith, Vasiliki Triantafyllia, Joselin M Vargas, Jose D Vargas, Anurag Verma, Vibha Vij, Duane R Wesemann, Meredith Yeager, Xu Yu, Yu Zhang, Steeve Boulant, Stephen J Chanock, Jordan J Feld, Ludmila Prokunina-Olsson
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries. Nature genetics 54 (8) (2022)
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic Iii, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Barbara B Biesecker
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. Human molecular genetics 31 (23) (2022)
Barbara B Biesecker, Margaret P Adam, Brian Hon-Yin Chung, Kenjiro Kosaki, Leonie A Menke, Susan M White, John C Carey, Raoul C M Hennekam
Elements of morphology: Standard terminology for the trunk and limbs. American journal of medical genetics. Part A 188 (11) (2022)
Jennifer J Johnston, Seeley Yoo, Barbara B Biesecker
A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes. Journal of human genetics 67 (10) (2022)
Christopher A Ours, Julie C Sapp, Mia B Hodges, Allison J de Moya, Barbara B Biesecker
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome. Cold Spring Harbor molecular case studies 7 (6) (2021)
Sofia Douzgou Houge, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M Keppler-Noreuil, Paul Kuentz, Grazia Maria Simonetta Mancini, Marie-Cecile Maniere, Victor Martínez-González, Victoria E Parker, Robert K Semple, Siddharth Srivastava, Pierre Vabres, Marie-Claire Y De Wit, John M Graham, Jill Clayton-Smith, Ghayda M Mirzaa, Barbara B Biesecker
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clinical genetics 101 (1) (2021)
Andrea M Gross, Megan Frone, Karen W Gripp, Bruce D Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Barbara B Biesecker, Dominic Esposito, Edjay Ralph Hernandez, Eric Legius, Mignon L Loh, Staci Martin, Deborah K Morrison, Katherine A Rauen, Pamela L Wolters, Dina Zand, Frank McCormick, Sharon A Savage, Douglas R Stewart, Brigitte C Widemann, Marielle E Yohe
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. American journal of medical genetics. Part A 182 (4) (2020)
Christopher A Ours, Barbara B Biesecker
Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19. American journal of medical genetics. Part A 182 (12) (2020)
Eric D Green, Chris Gunter, Barbara B Biesecker, Valentina Di Francesco, Carla L Easter, Elise A Feingold, Adam L Felsenfeld, David J Kaufman, Elaine A Ostrander, William J Pavan, Adam M Phillippy, Anastasia L Wise, Jyoti Gupta Dayal, Britny J Kish, Allison Mandich, Christopher R Wellington, Kris A Wetterstrand, Sarah A Bates, Darryl Leja, Susan Vasquez, William A Gahl, Bettie J Graham, Daniel L Kastner, Paul Liu, Laura Lyman Rodriguez, Benjamin D Solomon, Vence L Bonham, Lawrence C Brody, Carolyn M Hutter, Teri A Manolio
Strategic vision for improving human health at The Forefront of Genomics. Nature 586 (7831) (2020)
Barbara B Biesecker, Steven M Harrison, Heidi L Rehm
Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al. Genetics in medicine : official journal of the American College of Medical Genetics 23 (3) (2020)
Scott M Gordon, Edward B Neufeld, Zhihong Yang, Milton Pryor, Lita A Freeman, Xiao Fan, Iftikhar J Kullo, Barbara B Biesecker, Alan T Remaley
DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass. Scientific reports 9 (1) (2019)
Rajarshi Ghosh, Steven M Harrison, Michael J Bamshad, Sharon E Plon, Barbara B Biesecker, null null
Updated recommendation for the benign stand-alone ACMG/AMP criterion. Human mutation 39 (11) (2019)
Kim M Keppler-Noreuil, Jay Lozier, Neal Oden, Anjali Taneja, Jasmine Burton-Akright, Julie C Sapp, Barbara B Biesecker
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Soo Jung Hong, Barbara B Biesecker, Jennifer Ivanovich, Melody S Goodman, Kimberly A Kaphingst
Factors affecting breast cancer patients' need for genetic risk information: From information insufficiency to information need. Journal of genetic counseling 28 (3) (2019)
Julie C Sapp, Anna Buser, Jasmine Burton-Akright, Kim M Keppler-Noreuil, Barbara B Biesecker
A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Varun Takyar, Divya Khattar, Alexander Ling, Rachna Patel, Julie C Sapp, Sun A Kim, Sungyoung Auh, Barbara B Biesecker, Kim M Keppler-Noreuil, Theo Heller
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome. American journal of medical genetics. Part A 176 (12) (2018)
Erin Turbitt, Megan C Roberts, Rebecca A Ferrer, Jennifer M Taber, Katie L Lewis, Barbara B Biesecker, Barbara B Biesecker, William Mp Klein
Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes. European journal of human genetics : EJHG 26 (5) (2018)
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Barbara B Biesecker
Characterization of thrombosis in patients with Proteus syndrome. American journal of medical genetics. Part A 173 (9) (2017)
Barbara B Biesecker, Kendall L Umstead, Kendall L Umstead, Robert C Green, Robert C Green, Barbara Koenig, Ian Krantz, Ian D Krantz, Leslie G Biesecker, Barbara B Biesecker
A taxonomy of medical uncertainties in clinical genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (8) (2017)
Ingrid M Wentzensen, Jennifer J Johnston, John H Patton, John M Graham, Julie C Sapp, Barbara B Biesecker
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. Human genome variation 3 (2016)
Sarah Bowdin, Adel Gilbert, Emma C Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara A Bernhardt, Barbara B Biesecker, Hans Tomas Bjornsson, Miriam Blitzer, Lisa C A D'Alessandro, Matthew A Deardorff, Laurie Demmer, Alison M Elliott, Gerald L Feldman, Ian A Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne Hudgins, A Micheil Innes, Laird Jackson, David L Veenstra, Raymond H Kim, Bruce R Korf, David H Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M Stephen Meyn, Nasim Monfared, Cynthia C Morton, John J Mulvihill, Sharon E Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B Spinner, D James Stavropoulos, Kathleen D Valverde, Darrel J Waggoner, Alisha Wilkens, Ronald D Cohn, Ian D Krantz
Recommendations for the integration of genomics into clinical practice. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)
Gillian W Hooker, Kendall L Umstead, Katie L Lewis, Barbara B Biesecker, Leslie G Biesecker, Barbara B Biesecker
Engagement and communication among participants in the ClinSeq Genomic Sequencing Study. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)
Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Barbara B Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature genetics 48 (12) (2016)
Ingrid M Wentzensen, Jennifer J Johnston, Kim Keppler-Noreuil, Karina Acrich, Karen David, Kisha D Johnson, John M Graham, Julie C Sapp, Barbara B Biesecker
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. Human genome variation 2 (2015)
Christopher A Wassif, Joanna L Cross, James Iben, Luis Sanchez-Pulido, Antony Cougnoux, Frances M Platt, Daniel S Ory, Chris P Ponting, Joan E Bailey-Wilson, Barbara B Biesecker, Forbes D Porter
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genetics in medicine : official journal of the American College of Medical Genetics 18 (1) (2015)
W Gregory Feero, Flavia M Facio, Emily A Glogowski, Heather L Hampel, Jill E Stopfer, Haley Eidem, Amy M Pizzino, David K Barton, Barbara B Biesecker
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait. Genetics in medicine : official journal of the American College of Medical Genetics 17 (9) (2014)