Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Paul Kruszka"'
Autor:
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R. F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie-José van den Boogaard, Eric W. Klee, Philippe M. Campeau
Publikováno v:
Genes, Vol 15, Iss 8, p 1033 (2024)
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, h
Externí odkaz:
https://doaj.org/article/bd7727c240f64782b2e5faaddbf4ec0a
Autor:
Alexandra Keefe, Dana Jensen, Renee Bend, Michelle Morrow, Paul Kruszka, Lauren O'Grady, Florian Eichler, Angela Sun, James Bennett
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100891- (2024)
Externí odkaz:
https://doaj.org/article/70807bdcb0cd471d9f4b544d8f6af6c4
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101046- (2024)
Externí odkaz:
https://doaj.org/article/48df3259114744dcb708e00c0320dd34
Autor:
Tara Wenger, Alexandra Keefe, Lukas Kruidenier, Megan Sikes, Abbey Scott, Joon-Ho Yu, Kate MacDuffie, Kailyn Anderson, Olivia Sommers, Heidi Gildersleeve, Kati Buckingham, Jessica Chong, Katrina Dipple, David Veenstra, Dan Doherty, Daniel Miller, Deborah Copenheaver, Jane Juusola, Amy Snook, Chayna Davis, Kirsty McWalter, Paul Kruszka, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101091- (2024)
Externí odkaz:
https://doaj.org/article/5b3d3c7d724a4815ae5e3718a3d5d1fe
Autor:
Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)
Externí odkaz:
https://doaj.org/article/08838cdb18824bf08898bac6830472ef
Autor:
Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101189- (2024)
Externí odkaz:
https://doaj.org/article/2e662ee18bbc439dac070a75a0ead7f9
Autor:
Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101369- (2024)
Externí odkaz:
https://doaj.org/article/77189ae45b2c491f99280943989bfb4f
Autor:
Adrianna K. San Roman, Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi Teitz, Isani Singh, Laura V. Blanton, Daniel W. Bellott, Tatyana Pyntikova, Julian Lange, Natalia Koutseva, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Angela E. Lin, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100462- (2024)
Summary: Somatic cells of human males and females have 45 chromosomes in common, including the “active” X chromosome. In males the 46th chromosome is a Y; in females it is an “inactive” X (Xi). Through linear modeling of autosomal gene expres
Externí odkaz:
https://doaj.org/article/f7bcee4c14104a018d0e1ee125035ddd
Autor:
Adrianna K. San Roman, Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris, Laura V. Blanton, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100259- (2023)
Summary: The “inactive” X chromosome (Xi) has been assumed to have little impact, in trans, on the “active” X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling re
Externí odkaz:
https://doaj.org/article/a25725f53e0c4b88aad1b61692c510c9
Autor:
Andrea Cohen, Joel Hughes, Clifton Dalgard, Paul Kruszka, Emmanuele Delot, Vincent Fusaro, Eric Vilain, Maximilian Muenke, Seth Berger
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100177- (2023)
Externí odkaz:
https://doaj.org/article/a41fc4de120d4ae0905faf239b263aff