Open window: when easily identifiable genomes and traits are in the public domain.

Autor: Misha Angrist

Publikováno v: PLoS ONE, Vol 9, Iss 3, p e92060 (2014)

"One can't be of an enquiring and experimental nature, and still be very sensible."--Charles Fort. As the costs of personal genetic testing "self-quantification" fall, publicly accessible databases housing people's genotypic and phenotypic informatio

Externí odkaz: https://doaj.org/article/8e4dd5cefeac4165acc5aecd8622fe5f

Good problems to have? Policy and societal implications of a disease-modifying therapy for presymptomatic late-onset Alzheimer’s disease

Autor: Anna Yang, Ornit Chiba-Falek, Boris Kantor, Misha Angrist

Publikováno v: Life Sciences, Society and Policy, Vol 16, Iss 1, Pp 1-11 (2020)
Life Sciences, Society and Policy

In the United States alone, the prevalence of AD is expected to more than double from six million people in 2019 to nearly 14 million people in 2050. Meanwhile, the track record for developing treatments for AD has been marked by decades of failure.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3b3039095805b5b48e0eae0d87c94a
http://link.springer.com/article/10.1186/s40504-020-00106-2

A Genocentric Approach to Discovery of Mendelian Disorders

Autor: Edward C. Smith, Liwen Wang, Shalini N. Jhangiani, B. Kim Andrews, Alexander C. Allori, Adam W. Hansen, Sherry S. Ross, Sarah Ellestad, Brita Boyd, Joanne Kurtzberg, Fritz J. Sedlazeck, V. Reid Sutton, Eric Boerwinkle, Erica E. Davis, Jill A. Rosenfeld, Aniko Sabo, Jennifer E. Posey, C. Michael Cotten, Jeffrey R. Marcus, Yezmin Perilla, James R. Lupski, Richard A. Gibbs, Mohammed Mikati, John S. Wiener, Heidi L. Cope, Michael M. Khayat, Pengfei Liu, Misha Angrist, Sara H. Katsanis, Sujay Kansagra, Stephen Miller, William Gallentine, Amanda French, Nicholas Katsanis, Mullai Murugan, Eileen Chambers, Allison E. Ashley-Koch, Theresa Curington, Amy P. Murtha, He Li, Patricia L. Ashley, Donna M. Muzny, Kimberley A. Fisher, Zeynep Coban Akdemir, Kevin D. Hill, Azita Sadeghpour, Margarita Bidegain, Todd Purves, Michael F. Wangler, Carolyn Pizoli, Christine M. Eng, Yaping Yang, Ronald N. Goldberg, Marie T. McDonald

Publikováno v: Am J Hum Genet

The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f874576161d739d85d6b845742fe3d2
https://europepmc.org/articles/PMC6849092/

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Autor: Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener

Publikováno v: American Journal of Human Genetics, 103, 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, 103, 5, pp. 666-678
American journal of human genetics, vol 103, iss 5

Item does not contain fulltext Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c2ddc9d5f68e0eed9530ef99151563
http://hdl.handle.net/2066/200025

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

Autor: Nicholas Katsanis, Robert Cook-Deegan, Sara H. Katsanis, Misha Angrist, Mollie A. Minear, Yezmin Perilla, Erica E. Davis, Azita Sadeghpour, Heidi Cope, Duke Task Force For Neonatal Genomics

Publikováno v: Journal of Participatory Medicine

Background: Unlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families’ rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870adfb49d5e328bcf6babde536af609
https://pubmed.ncbi.nlm.nih.gov/33052113