P155: The ClinGen framework for naming monogenic diseases*

by Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg
Published 2024-01-01

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

by Catherine Tcheandjieu, Matthew Aguirre, Stefan Gustafsson, Priyanka Saha, Praneetha Potiny, Melissa Haendel, Erik Ingelsson, Manuel A Rivas, James R Priest
Published 2020-11-01

Ten quick tips for biocuration.

by Y Amy Tang, Klemens Pichler, Anja Füllgrabe, Jane Lomax, James Malone, Monica C Munoz-Torres, Drashtti V Vasant, Eleanor Williams, Melissa Haendel
Published 2019-05-01

Structuring, reuse and analysis of electronic dental data using the Oral Health and Disease Ontology

by William D. Duncan, Thankam Thyvalikakath, Melissa Haendel, Carlo Torniai, Pedro Hernandez, Mei Song, Amit Acharya, Daniel J. Caplan, Titus Schleyer, Alan Ruttenberg
Published 2020-08-01

Recommended practices and ethical considerations for natural language processing‐assisted observational research: A scoping review

by Sunyang Fu, Liwei Wang, Sungrim Moon, Nansu Zong, Huan He, Vikas Pejaver, Rose Relevo, Anita Walden, Melissa Haendel, Christopher G. Chute, Hongfang Liu
Published 2023-03-01

The N3C governance ecosystem: A model socio-technical partnership for the future of collaborative analytics at scale

by Christine Suver, Jeremy Harper, Johanna Loomba, Mary Saltz, Julian Solway, Alfred Jerrod Anzalone, Kellie Walters, Emily Pfaff, Anita Walden, Julie McMurry, Christopher G. Chute, Melissa Haendel
Published 2023-01-01

The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research

by Jade Hotchkiss, Noluthando Manyisa, Samuel Mawuli Adadey, Oluwafemi Gabriel Oluwole, Edmond Wonkam, Khuthala Mnika, Abdoulaye Yalcouye, Victoria Nembaware, Melissa Haendel, Nicole Vasilevsky, Nicola J. Mulder, Simon Jupp, Ambroise Wonkam, Gaston K. Mazandu
Published 2019-11-01

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

by Ainslie Tisdale, Christine M. Cutillo, Ramaa Nathan, Pierantonio Russo, Bryan Laraway, Melissa Haendel, Douglas Nowak, Cindy Hasche, Chun-Hung Chan, Emily Griese, Hugh Dawkins, Oodaye Shukla, David A. Pearce, Joni L. Rutter, Anne R. Pariser
Published 2021-10-01

Coding long COVID: characterizing a new disease through an ICD-10 lens

by Emily R. Pfaff, Charisse Madlock-Brown, John M. Baratta, Abhishek Bhatia, Hannah Davis, Andrew Girvin, Elaine Hill, Elizabeth Kelly, Kristin Kostka, Johanna Loomba, Julie A. McMurry, Rachel Wong, Tellen D. Bennett, Richard Moffitt, Christopher G. Chute, Melissa Haendel, The N3C Consortium, The RECOVER Consortium
Published 2023-02-01

Achieving human and machine accessibility of cited data in scholarly publications

by Joan Starr, Eleni Castro, Mercè Crosas, Michel Dumontier, Robert R. Downs, Ruth Duerr, Laurel L. Haak, Melissa Haendel, Ivan Herman, Simon Hodson, Joe Hourclé, John Ernest Kratz, Jennifer Lin, Lars Holm Nielsen, Amy Nurnberger, Stefan Proell, Andreas Rauber, Simone Sacchi, Arthur Smith, Mike Taylor, Tim Clark
Published 2015-05-01

Community risks for SARS-CoV-2 infection among fully vaccinated US adults by rurality: A retrospective cohort study from the National COVID Cohort Collaborative

by Alfred Jerrod Anzalone, Jing Sun, Amanda J. Vinson, William H. Beasley, William B. Hillegass, Kimberly Murray, Brian M. Hendricks, Melissa Haendel, Carol Reynolds Geary, Kristina L. Bailey, Corrine K. Hanson, Lucio Miele, Ronald Horswell, Julie A. McMurry, J. Zachary Porterfield, Michael T. Vest, H. Timothy Bunnell, Jeremy R. Harper, Bradley S. Price, Susan L. Santangelo, Clifford J. Rosen, James C. McClay, Sally L. Hodder
Published 2023-01-01

The health care and life sciences community profile for dataset descriptions

by Michel Dumontier, Alasdair J.G. Gray, M. Scott Marshall, Vladimir Alexiev, Peter Ansell, Gary Bader, Joachim Baran, Jerven T. Bolleman, Alison Callahan, José Cruz-Toledo, Pascale Gaudet, Erich A. Gombocz, Alejandra N. Gonzalez-Beltran, Paul Groth, Melissa Haendel, Maori Ito, Simon Jupp, Nick Juty, Toshiaki Katayama, Norio Kobayashi, Kalpana Krishnaswami, Camille Laibe, Nicolas Le Novère, Simon Lin, James Malone, Michael Miller, Christopher J. Mungall, Laurens Rietveld, Sarala M. Wimalaratne, Atsuko Yamaguchi
Published 2016-08-01

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

by Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam, Gareth Baynam
Published 2020-12-01

Community risks for SARS-CoV-2 infection among fully vaccinated US adults by rurality: A retrospective cohort study from the National COVID Cohort Collaborative.

by Alfred Jerrod Anzalone, Jing Sun, Amanda J Vinson, William H Beasley, William B Hillegass, Kimberly Murray, Brian M Hendricks, Melissa Haendel, Carol Reynolds Geary, Kristina L Bailey, Corrine K Hanson, Lucio Miele, Ronald Horswell, Julie A McMurry, J Zachary Porterfield, Michael T Vest, H Timothy Bunnell, Jeremy R Harper, Bradley S Price, Susan L Santangelo, Clifford J Rosen, James C McClay, Sally L Hodder, National COVID Cohort Collaborative (N3C) Consortium
Published 2023-01-01

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

by Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Published 2019-07-01

Finding our way through phenotypes.

by Andrew R Deans, Suzanna E Lewis, Eva Huala, Salvatore S Anzaldo, Michael Ashburner, James P Balhoff, David C Blackburn, Judith A Blake, J Gordon Burleigh, Bruno Chanet, Laurel D Cooper, Mélanie Courtot, Sándor Csösz, Hong Cui, Wasila Dahdul, Sandip Das, T Alexander Dececchi, Agnes Dettai, Rui Diogo, Robert E Druzinsky, Michel Dumontier, Nico M Franz, Frank Friedrich, George V Gkoutos, Melissa Haendel, Luke J Harmon, Terry F Hayamizu, Yongqun He, Heather M Hines, Nizar Ibrahim, Laura M Jackson, Pankaj Jaiswal, Christina James-Zorn, Sebastian Köhler, Guillaume Lecointre, Hilmar Lapp, Carolyn J Lawrence, Nicolas Le Novère, John G Lundberg, James Macklin, Austin R Mast, Peter E Midford, István Mikó, Christopher J Mungall, Anika Oellrich, David Osumi-Sutherland, Helen Parkinson, Martín J Ramírez, Stefan Richter, Peter N Robinson, Alan Ruttenberg, Katja S Schulz, Erik Segerdell, Katja C Seltmann, Michael J Sharkey, Aaron D Smith, Barry Smith, Chelsea D Specht, R Burke Squires, Robert W Thacker, Anne Thessen, Jose Fernandez-Triana, Mauno Vihinen, Peter D Vize, Lars Vogt, Christine E Wall, Ramona L Walls, Monte Westerfeld, Robert A Wharton, Christian S Wirkner, James B Woolley, Matthew J Yoder, Aaron M Zorn, Paula Mabee
Published 2015-01-01

Research Resources: Curating the New Eagle-I Discovery System

by Vasilevsky, Nicole, Johnson, Tenille E, Corday, Karen, Torniai, Carlo, Brush, Matthew, Segerdell, Erik, Wilson, Melanie, Shaffer, Chris, Robinson, David, Haendel, Melissa
Published 2012