Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Gianpiero Cavalleri"'
Autor:
Madeline E. Marks, Ramya Krishna Botta, Riichiro Abe, Thomas M. Beachkofsky, Isabelle Boothman, Bruce C. Carleton, Wen-Hung Chung, Ricardo R. Cibotti, Roni P. Dodiuk-Gad, Christian Grimstein, Akito Hasegawa, Jay H. Hoofnagle, Shuen-Iu Hung, Benjamin Kaffenberger, Daniela Kroshinsky, Rannakoe J. Lehloenya, Michelle Martin-Pozo, Robert G. Micheletti, Maja Mockenhaupt, Keisuke Nagao, Suman Pakala, Amy Palubinsky, Helena B. Pasieka, Jonathan Peter, Munir Pirmohamed, Melissa Reyes, Hajirah N. Saeed, Jeffery Shupp, Chonlaphat Sukasem, Jhih Yu Syu, Mayumi Ueta, Li Zhou, Wan-Chun Chang, Patrice Becker, Teresa Bellon, Kemberlee Bonnet, Gianpiero Cavalleri, James Chodosh, Anna K. Dewan, Arturo Dominguez, Xinzhong Dong, Elena Ezhkova, Esther Fuchs, Jennifer Goldman, Sonia Himed, Simon Mallal, Alina Markova, Kerry McCawley, Allison E. Norton, David Ostrov, Michael Phan, Arthur Sanford, David Schlundt, Daniel Schneider, Neil Shear, Kanade Shinkai, Eric Tkaczyk, Jason A. Trubiano, Simona Volpi, Charles S. Bouchard, Sherrie J. Divito, Elizabeth J. Phillips
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) is a predominantly drug-induced disease, with a mortality rate of 15–20%, that engages the expertise of multiple disciplines: dermatology, allergy, immunology, clinical pharmacology, bur
Externí odkaz:
https://doaj.org/article/83a942713faf4a3ab1f40a9ad2a0e4a0
Autor:
Hao Hu, Nayia Petousi, Gustavo Glusman, Yao Yu, Ryan Bohlender, Tsewang Tashi, Jonathan M Downie, Jared C Roach, Amy M Cole, Felipe R Lorenzo, Alan R Rogers, Mary E Brunkow, Gianpiero Cavalleri, Leroy Hood, Sama M Alpatty, Josef T Prchal, Lynn B Jorde, Peter A Robbins, Tatum S Simonson, Chad D Huff
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006675 (2017)
The indigenous people of the Tibetan Plateau have been the subject of much recent interest because of their unique genetic adaptations to high altitude. Recent studies have demonstrated that the Tibetan EPAS1 haplotype is involved in high altitude-ad
Externí odkaz:
https://doaj.org/article/e875a2762e1049a8876383e267b627a5
Autor:
Arif Shukralla, Robert Carton, Katherine A. Benson, Hany El Naggar, Austin Lacey, Gianpiero Cavalleri, Norman Delanty
Publikováno v:
American Journal of Medical Genetics Part A. 188:1407-1419
To evaluate the quality of whole-exome sequencing (WES) reporting in the epilepsy literature. We aimed to assess the quality of reporting of WES in epilepsy. We compared studies based on journal type and if outcome reporting biases exist. We used a s
Autor:
Andreas Schulze-Bonhage, Patrick May, Samuel Berkovic, Lorenzo Ferri, Monica Gagliardi, Adam Strzelczyk, Oluyomi Modupe Adesoji, Vytautas Kasiulevicius, Heidi Kirsch, Algirdas Utkus, Bobby Koeleman, Gianpiero Cavalleri
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here, we report a trans-ethnic GWAS including 29,944 cases, stratified into three broad- and seven sub-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8987c7a3b8658557c398255d13bf3cd6
https://doi.org/10.1101/2022.06.08.22276120
https://doi.org/10.1101/2022.06.08.22276120
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Haplotype-based analyses have recently been leveraged to interrogate the fine-scale structure in specific geographic regions, notably in Europe, although an equivalent haplotype-based understanding across the whole of Europe with these tools is lacki
Autor:
Ingrid Scheffer, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Brenda Porter, Kristen Park, Gianpiero Cavalleri, Nicholas Stong
Publikováno v:
Epilepsia
Epilepsia, Vol. 60, no.5, p. 797-806 (2019)
Epilepsia, Vol. 60, no.5, p. 797-806 (2019)
Summary Objective The Epilepsy Genetics Initiative (EGI) was formed in 2014 to create a centrally managed database of clinically generated exome sequence data. EGI performs systematic research‐based reanalysis to identify new molecular diagnoses th
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A86.2-A86
PurposeWhole exome sequencing is a new rapid and cost effective tool for the diagnosis of the epilepsies.MethodOur primary aim was to assess the quality of reporting of WES. Secondary aims; to compare the quality of studies based on journal type if r
Autor:
Brandon M, Lane, Susan, Murray, Katherine, Benson, Agnieszka, Bierzynska, Megan, Chryst-Stangl, Liming, Wang, Guanghong, Wu, Gianpiero, Cavalleri, Brendan, Doyle, Neil, Fennelly, Anthony, Dorman, Shane, Conlon, Virginia, Vega-Warner, Damian, Fermin, Poornima, Vijayan, Mohammad Azfar, Qureshi, Shirlee, Shril, Moumita, Barua, Friedhelm, Hildebrandt, Martin, Pollak, David, Howell, Matthew G, Sampson, Moin, Saleem, Peter J, Conlon, Robert, Spurney, Rasheed, Gbadegesin
Publikováno v:
J Am Soc Nephrol
BACKGROUND: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have
Autor:
Graham Neil Thomas, Remi Stevelink, Ingrid Scheffer, Andreja Avbersek, Thomas Ferraro, Costin Leu, Krishna Chinthapalli, Claudia B. Catarino, Peter Widdess-Walsh, Colin Doherty, Anthony Marson, Michele Iacomino, Martin Krenn, Aarno Palotie, Heidi Kirsch, Stefan Wolking, Gianpiero Cavalleri
Publikováno v:
MOLECULAR GENETICS AND METABOLISM REPORTS
Molecular Genetics and Metabolism Reports, 21. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, 21. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Altered vitamin B6 metabolism due to pathogenic variants in the gene PNPO causes early onset epileptic encephalopathy, which can be treated with high doses of vitamin B6. We recently reported that single nucleotide polymorphisms (SNPs) that influence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd7c8c2629b12267d6450abecf614381
http://livrepository.liverpool.ac.uk/3061803/1/1-s2.0-S2214426919301570-main.pdf
http://livrepository.liverpool.ac.uk/3061803/1/1-s2.0-S2214426919301570-main.pdf
Autor:
Charles A, Steward, Jolien, Roovers, Marie-Marthe, Suner, Jose M, Gonzalez, Barbara, Uszczynska-Ratajczak, Dmitri, Pervouchine, Stephen, Fitzgerald, Margarida, Viola, Hannah, Stamberger, Fadi F, Hamdan, Berten, Ceulemans, Patricia, Leroy, Caroline, Nava, Anne, Lepine, Electra, Tapanari, Don, Keiller, Stephen, Abbs, Alba, Sanchis-Juan, Detelina, Grozeva, Anthony S, Rogers, Mark, Diekhans, Roderic, Guigó, Robert, Petryszak, Berge A, Minassian, Gianpiero, Cavalleri, Dimitrios, Vitsios, Slavé, Petrovski, Jennifer, Harrow, Paul, Flicek, F, Lucy Raymond, Nicholas J, Lench, Peter De, Jonghe, Jonathan M, Mudge, Sarah, Weckhuysen, Sanjay M, Sisodiya, Adam, Frankish
Publikováno v:
NPJ Genomic Medicine
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60–65% of patients without a molecular diagnosis. Here, we explore the incomplete