PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Autor: Jacqueline Cappadocia, Lisa B. Aiello, Michael J. Kelley, Bryson W. Katona, Kara N. Maxwell, Anurag Verma, Ph.D., Shefali S. Verma, Ph.D., Yuki Bradford, M.S., Ashlei Brock, Stephanie DerOhannessian, Scott Dudek, M.S., Joseph Dunn, Theodore Drivas, M.D., Ph.D., Ned Haubein, Khadijah Hu-Sain, Renae Judy, Ashley Kloter, Yi-An Ko, Meghan Livingstone, Linda Morrel, Colleen Morse, M.S., Afiya Poindexter, Marjorie Risman, M.S., Teo Tran, Fred Vadivieso, JoEllen Weaver, Daniel J. Rader, M.D., Marylyn D. Ritchie, Ph.D., Michael D. Feldman, M.D., Ph.D., Christina Beechert, Caitlin Forsythe, M.S., Erin D. Fuller, Zhenhua Gu, M.S., Michael Lattari, Alexander Lopez, M.S., John D. Overton, Ph.D., Maria Sotiropoulos Padilla, M.S., Manasi Pradhan, M.S., Kia Manoochehri, B.S., Thomas D. Schleicher, M.S., Louis Widom, Sarah E. Wolf, M.S., Ricardo H. Ulloa, B.S., Amelia Averitt, Ph.D., Nilanjana Banerjee, Ph.D., Michael Cantor, M.D., Dadong Li, Ph.D., Sameer Malhotra, M.D., Deepika Sharma, MHI, Jeffrey Staples, Ph.D., Xiaodong Bai, Ph.D., Suganthi Balasubramanian, Ph.D., Suying Bao, Ph.D., Boris Boutkov, Ph.D., Siying Chen, Ph.D., Gisu Eom, B.S., Lukas Habegger, Ph.D., Alicia Hawes, B.S., Shareef Khalid, Olga Krasheninina, M.S., Rouel Lanche, B.S., Adam J. Mansfield, B.A., Evan K. Maxwell, Ph.D., George Mitra, B.A., Mona Nafde, M.S., Sean O’Keeffe, Ph.D., Max Orelus, B.B.A., Razvan Panea, Ph.D., Tommy Polanco, B.A., Ayesha Rasool, M.S., Jeffrey G. Reid, Ph.D., William Salerno, Ph.D., Jeffrey C. Staples, Ph.D., Kathie Sun, Ph.D., Goncalo Abecasis, D.Phil., Joshua Backman, Ph.D., Amy Damask, Ph.D., Lee Dobbyn, Ph.D., Manuel Allen Revez Ferreira, Ph.D., Arkopravo Ghosh, M.S., Christopher Gillies, Ph.D., Lauren Gurski, B.S., Eric Jorgenson, Ph.D., Hyun Min Kang, Ph.D., Michael Kessler, Ph.D., Jack Kosmicki, Ph.D., Alexander Li, Ph.D., Nan Lin, Ph.D., Daren Liu, M.S., Adam Locke, Ph.D., Jonathan Marchini, Ph.D., Anthony Marcketta, M.S., Joelle Mbatchou, Ph.D., Arden Moscati, Ph.D., Charles Paulding, Ph.D., Carlo Sidore, Ph.D., Eli Stahl, Ph.D., Kyoko Watanabe, Ph.D., Bin Ye, Ph.D., Blair Zhang, Ph.D., Andrey Ziyatdinov, Ph.D., Ariane Ayer, B.S., Aysegul Guvenek, Ph.D., George Hindy, Ph.D., Giovanni Coppola, M.D., Jan Freudenberg, M.D., Jonas Bovijn, M.D., Katherine Siminovitch, M.D., Kavita Praveen, Ph.D., Luca A. Lotta, M.D., Manav Kapoor, Ph.D., Mary Haas, Ph.D., Moeen Riaz, Ph.D., Niek Verweij, Ph.D., Olukayode Sosina, Ph.D., Parsa Akbari, Ph.D., Priyanka Nakka, Ph.D., Sahar Gelfman, Ph.D., Sujit Gokhale, B.E., Tanima De, Ph.D., Veera Rajagopal, Ph.D., Alan Shuldiner, M.D., Gannie Tzoneva, Ph.D., Juan Rodriguez-Flores, Ph.D., Esteban Chen, M.S., Marcus B. Jones, Ph.D., Michelle G. LeBlanc, Ph.D., Jason Mighty, Ph.D., Lyndon J. Mitnaul, Ph.D., Nirupama Nishtala, Ph.D., Nadia Rana, Ph.D., Jaimee Hernandez, Goncalo Abecasis, PhD, Aris Baras, M.D., Andrew Deubler, Aris Economides, Ph.D., Luca A. Lotta, M.D., Ph.D.

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101858- (2024)

This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841∗)

Externí odkaz: https://doaj.org/article/208611a0067a41088e055b67156b197c

A three‐pronged approach that leans on Indigenous knowledge for northern fish monitoring and conservation

Autor: Ella Bowles, Kia Marin, Pamela MacLeod, Dylan J. Fraser

Publikováno v: Evolutionary Applications, Vol 14, Iss 3, Pp 653-657 (2021)

Abstract Investigating whether changes within fish populations may result from harvesting requires a comprehensive approach, especially in more data‐sparse northern regions. Our study took a three‐pronged approach to investigate walleye populatio

Externí odkaz: https://doaj.org/article/94cd0781551344f592ab8510ee3a0c1b

Recognition of lung volume condition based on phase space mapping using electrical impedance tomography

Autor: Moridani Mohammad Karimi, Choopani Fatemeh, Kia Mandana

Publikováno v: Journal of Electrical Bioimpedance, Vol 10, Iss 1, Pp 34-39 (2019)

The purpose of this paper is to identify differences between abnormal and normal lung signals gathered by an EIT device, which is a new, non-invasive system that seeks the electrical conductivity and permittivity inside a body. Lung performances in p

Externí odkaz: https://doaj.org/article/6179011d33d54b8fa8c7c660c56d62a7

Striking Phenotypic Variation yet Low Genetic Differentiation in Sympatric Lake Trout (Salvelinus namaycush).

Autor: Kia Marin, Andrew Coon, Robert Carson, Paul V Debes, Dylan J Fraser

Publikováno v: PLoS ONE, Vol 11, Iss 9, p e0162325 (2016)

The study of population differentiation in the context of ecological speciation is commonly assessed using populations with obvious discreteness. Fewer studies have examined diversifying populations with occasional adaptive variation and minor reprod

Externí odkaz: https://doaj.org/article/576f0ea9567140aab898297bd2ba8d75

Traditional ecological knowledge reveals the extent of sympatric lake trout diversity and habitat preferences

Autor: Kia Marin, Andrew Coon, Dylan J. Fraser

Publikováno v: Ecology and Society, Vol 22, Iss 2, p 20 (2017)

Multidisciplinary approaches to conservation have become increasingly important in northern regions. Because many First Nations communities have relied on freshwater fish populations for essential food over millennia, community members often possess

Externí odkaz: https://doaj.org/article/62d84368117645cf94acacacdbca79b0