Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Articles by Raj Ramesar
Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer
AGE-RAGE advanced glycation end products-receptor for advanced glycation end products ANOSIM analysis of similarities AUC area under the receiver operating characteristic curve BioCarta BioCarta pathway database BP biological process CC cellular component CI confidence interval C-LS cancer-associated Lynch syndrome CRC sporadic colorectal cancer CTRL healthy control DE differential expression DESeq2 Differential Expression Sequencing 2 R package EPCAM epithelial cell adhesion molecule FDR...
A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner
|
Abstract Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity.
By Toni Boltz, Benjamin Chu, Matthew DeFelice, Calwing Liao, Julia M. Sealock, Robert Ye, Lerato Majara, Jack M. Fu, Lingyu Zhan, Sarah E. Medland, Sinéad B. Chapman, Simone Rubinacci, Jonna Grimsby, Tamrat Abebe, Melkam Alemayehu, Elizabeth Atkinson Verified, Tim B. Bigdeli, Harrison A. Brand, Lori B. Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Toni Hill, Hailiang Huang, Roxanne James, Moses Joloba, Christopher Kachulis, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith Kwobah, Seungmo Lee, Niall J Lennon, Penelope A. Lind, Esteban Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin McMahon, Noeline Nakasujja, Carter Newman, Lethukuthula L. Nkambule, Ana Olivares, Catherine M Olsen, Linnet Ongeri, Sophie Parsa, Shengying Qin, Raj Ramesar, Chiara Sabatti, Jacquelyn Schneider, Christine Stevens, Anne Stevenson, Erik Stricker, Jessie Tang, Megan Townsend Verified, David Whiteman, Mary T. Yohannes, Mingrui Yu, Kai Yuan, NeuroGap-Psychosis Study, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C. Koenen, Charles Newton, Dan Stein, Solomon Teferra, Zukiswa Zingela, Carlos N. Pato, Michele Pato, Carlos Lopez-Jaramillo, Nelson B. Freimer, Roel A. Ophoff, Loes M. Olde Loohuis, Michael E. Talkowski, Benjamin M. Neale, Daniel P. Howrigan, Alicia Martin, Jacqueline I. Goldstein, Fred K. Ashaba, Amanda B. Bradway, Stella Gichuru, Marissa L. Gildea, Kalyn M. Hubbard, Wilfred E. Injera, Phillip R. Kalmbach, Joseph Kyebuzibwa, Pierre Mowlem, Henry Musinguzi, Rehema M. Mwema, Conor R. O’Neil, Adele Pretorius, Faye L. Reagan, Welelta Shiferaw, Rocky E. Stroud II
|
Nature
Verified
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
|
Abstract Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders.
By Mathieu Quinodoz, Kim Rodenburg, Karolina Kaminska Verified, Suzanne de Bruijn, Ana Belén Iglesias-Romero, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K Holtes, Stephen Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan Panneman, Rebekkah J. Hitti-Malin, Manir Dan Ali, Sten Andreasson, Gavin Arno, Galuh Astuti, Carmen Ayuso, Eyal Banin, Tahsin Stefan Barakat, Mirella Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David Birch, Pooja Mittal Biswas, Fiona Blanco-Kelly, Béatrice Bocquet, Camiel Boon, Kari Branham, Dominique Brémond-Gignac, Alexis Ceecee Britten-Jones, Kinga M. Bujakowska, Elizabeth L Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Stephen P. Daiger, Elfride De Baere, Marieke De Bruyne, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Beau J. Fenner, Lidia Fernández-Caballero, Simone Gana, Alejandro Garanto, Jessica Gardner Verified, Christian Gilissen, Kensuke Goto, Sam Griffiths-Jones, Tobias B. Haack, Lonneke Haer-Wigman, Alison Hardcastle, Takaaki Hayashi, Elise Heon, Lies H. Hoefsloot, Alexander Hoischen, Carel B. Hoyng, Chris F Inglehearn, Takeshi Iwata, Brynjar O. Jensson, Kaylie Jones, Vasiliki Kalatzis, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne F. Kohl, Taro Kominami, Laura Kühlewein, Tina M. Lamey, Bart P. Leroy, Petra Liskova, Irma Ribbon Lopez, Irma Hernández López, Omar A. Mahroo, M. Pilar Martin-Gutierrez, Nelson Martins, Laura Mauring, Martin McKibbin, Terri L. McLaren, Isabelle Meunier, Michel Michaelides, Jose Millan, Kei Mizobuchi, Rajarshi Mukherjee, Zoltan Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric Pierce, Raj Ramesar, Francis Ramond, Florence Rasquin, Gillian I. Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H. Sabir, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Margherita Scarpato, Dror Sharon, Sabrina Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori Sullivan, Viktória Szabó, Jacek P. Szaflik, Gita Taurina, Carmel Toomes, Viet Tran, Miltiadis Tsilimbaris, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Mattias Van Heetvelde, Andrea L. Vincent, Andrew Webster Verified, Laura Whelan, Bernd Wissinger, Kazutoshi Yoshitake, Juan C Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan Jacob, Siying Lin, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing, Zuzana Cvackova, Erica G. M. Boonen, Ala’a AlTalbishi, Georg Ansari, Radha Ayyagari, Sandro Banfi, Luísa Coutinho-Santos, Berta de la Cerda, John N. De Roach, Juliana M. Ferraz Sallum, Roser Gonzàlez-Duarte, Josephine P. Holtan, Smaragda Kamakari, Krisztina Knézy, Rina Leibu, Quinten Mahieu, Gaël Manes, Luke Mansard, Michiel Oorsprong, Ai Fujita Sajiki, Cristina M. Santos, Hendrik P. N. Scholl, Alberta A. H. J. Thiadens, Pavlina Tsoka, Sophie Valleix, Joseph van Aerschot, L. Ingeborgh van den Born, Virginie J. M. Verhoeven, Georgia G. Yioti, Frans P. M. Cremers
|
Nature
Verified
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations
Preprint Article Version 1 This version is not peer-reviewed Version 1 : Received: 20 February 2024 / Approved: 20 February 2024 / Online: 20 February 2024 (09:20:43 CET) Kalideen, K.; Rayner, B.; Ramesar, R. Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations. Preprints 2024, 2024021128. https://doi.org/10.20944/preprints202402.1128.v1 Kalideen, K.; Rayner, B.; Ramesar, R.
Amygdala Nuclei: Genetic Architecture and Association With PTSD and Related Symptom Measures
PTSD is a psychiatric condition that may occur after trauma exposure. The amygdala has previously been implicated in the neurobiology of PTSD, which is biologically plausible given its role in fear conditioning. Little research has, however, focused on the associations between PTSD and specific amygdala nuclei. Further, while genetic variants have been associated with amygdala volume, the genetic architecture of its nine nuclei remains relatively unexplored.
Africa: Stem Cells May Hold the Key to Fixing a Mutated Gene That Causes Blindness
Stem cell research is being used in South Africa to develop "disease in the dish" models that fix a gene mutation that results in night blindness, tunnel vision and eventually blindness. If the research pans out, the mutations can be fixed in a process called gene editing, which take place in stem cells derived from the patient's skin. These stem cells are turned into the tissue compromised in disease, which in this case is the retina of the eye.
Show More
loading
Actions
Is this you?
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.Get in touch with Raj
Contact Raj, search articles and posts on X, monitor coverage, and track replies from one place.
Learn more about Muck Rack